A 70-year-old white male with severe symptomatic aortic regurgitation secondary to healed infective endocarditis was managed with transcatheter aortic valve implantation (TAVI) via an apical approach. The patient was classified as high-risk for surgical intervention due to secondary pulmonary hypertension, severely impaired left ventricular function (left ventricular ejection fraction [LVEF] of 20%), chronic renal insufficiency (serum creatinine 2.1 mg/dL), and a logistic EuroSCORE I of 24.36%. Pre-TAVI medical management included torasemide 20 mg once daily, ramipril 5 mg once daily, bisoprolol 2.5 mg twice daily, and spironolactone 12.5 mg once daily. On admission, he presented with cardiac decompensation and dyspnea (temperature 36.7°C, heart rate 99 beats/minute, blood pressure 109/48 mmHg), with no signs of infection (normal C-reactive protein, normal leukocyte count), and no microbiological workup performed. Laboratory findings revealed mild hepatocellular dysfunction (aspartate aminotransferase 59 U/L, alanine aminotransferase 67 U/L) and mild anemia (hemoglobin 10.7 g/dL); no urine analysis was conducted. Coronary angiography, performed prior to TAVI, was normal. The initial TAVI procedure utilized a JenaValve 27 mm self-expandable bioprosthesis, resulting in good immediate hemodynamic outcomes with minimal transvalvular central insufficiency. However, recurrent cardiac decompensation occurred due to persistent severe left ventricular dysfunction, leading to a second interdisciplinary evaluation. Four weeks post-TAVI, the patient underwent implantation of a left ventricular assist device (LVAD) system (Thoratec® HeartMate II), with an uneventful postoperative course and sustained asymptomatic status for one year. During this period, echocardiographic monitoring revealed a progressive worsening of transvalvular central insufficiency, reaching severe levels, without evidence of structural valve leaflet damage or dissection in the JenaValve prosthesis. This suggested a hemodynamic mechanism related to high LVAD flow rates and altered left ventricular dynamics. Given the persistent regurgitation and lack of improvement in ventricular function, a valve-in-valve strategy was selected. The subsequent TAVI procedure was performed under general anesthesia using a CoreValve Evolut R 29 mm self-expandable prosthesis without prior valvuloplasty. Prior to deployment, the LVAD flow was reduced to minimum and the patient was paced at 140 beats/minute to optimize ventricular contractility and reduce left ventricular wall stress. Positioning was meticulously guided by fluoroscopy and transesophageal echocardiography (TEE), with the goal of placing the ventricular strut of the CoreValve Evolut R between the ventricular end and the 'cusp feelers' of the existing JenaValve, based on individual CT imaging demonstrating optimal positioning of the JenaValve's ventricular edge within the left ventricular outflow tract (LVOT). Initial positioning was successful without repositioning. Final deployment was confirmed via fluoroscopic control, followed by successful release in the intended location. Pacing was discontinued, and LVAD flow was gradually restored to normal levels, with stable hemodynamics. Postoperative recovery was uneventful. A follow-up TEE at 12 months demonstrated no significant aortic regurgitation and only marginal residual insufficiency. The patient reported no symptoms and demonstrated significant improvement in functional capacity, with a 6-minute walk test increasing from 148 m (admission) to 381 m. Echocardiography at 12 months showed an improvement in LVEF to 33%, confirming favorable remodeling and hemodynamic stabilization. The case illustrates the challenges of managing complex valvular and ventricular pathology in a high-risk patient, and highlights the role of precise TAVI positioning, flow modulation, and pacing in achieving successful valve-in-valve outcomes with preserved valve function and improved ventricular performance.


A 12-year-old boy came in with sudden headaches and drinking a lot of water, urinating a lot. He had no other health problems. Tests showed he had diabetes insipidus — a condition where his body can't hold water properly. MRI scans found a small cyst in the pituitary area that had burst, but it wasn't pressing on any parts of his brain. Since he wasn't having serious symptoms and his other hormone levels were normal, doctors chose not to do surgery. Instead, they watched him closely with regular check-ups. Over time, he grew normally and started puberty, but his growth slowed a bit. Later, tests found he had a small lack of growth hormone. After starting growth hormone shots, his growth sped up. The cyst stayed stable and didn't get worse. All the doctors agreed it was safe to keep watching him without treatment.


A 12-year-old male presented with acute onset of headache and polyuria-polydipsia syndrome, which began one week prior to evaluation. He had no significant past medical history. Physical examination revealed a height of 146.5 cm (M) and weight of 30 kg (-1.4 SD), with no signs of adrenal insufficiency or hypothyroidism. He was at the early stages of puberty, with bilateral gonadal volumes of 3.2 cm and a penile length of 6.2 cm (M). Clinical manifestations included polyuria with urine output reaching up to 113 ml/kg/day, nocturnal enuresis, and excessive fluid intake of 3.8 liters/m². Ophthalmologic assessment, including optical coherence tomography (OCT), showed normal visual function and retinal structure, with no evidence of optic nerve or retinal pathology.

Endocrine evaluation demonstrated diabetes insipidus (DI), characterized by a serum sodium of 140 mEq/L, plasma osmolality of 287 mosm/kg, and a markedly low urine osmolality of 179 mosm/kg. Basal hormone levels—including insulin-like growth factor-1 (IGF1), prolactin (PRL), free T4, cortisol, follicle-stimulating hormone (FSH), and luteinizing hormone (LH)—were all within normal limits, indicating no primary endocrine dysfunction beyond DI. Magnetic resonance imaging (MRI) with and without contrast revealed apoplexy of a Rathke cleft cyst (RCC), presenting as spontaneous hyperintensity on both T1 and T2-weighted sequences, measuring 15 × 6 × 11 mm. The anterior pituitary demonstrated homogeneous contrast enhancement, while the posterior pituitary showed loss of typical hyperintensity, with no radiological features suggestive of craniopharyngioma.

The diagnosis of DI was confirmed and showed significant clinical improvement with exogenous vasopressin therapy. A multidisciplinary team consisting of an endocrinologist, neurosurgeon, and radiologist reviewed the case, concluding that the absence of compressive neurologic symptoms, normal baseline endocrine function, and stable RCC apoplexy over nine months of serial MRI monitoring (with size reduction from 15×6×11 mm to 12×11×10 mm) supported a conservative management strategy. The patient was subjected to regular clinical, biochemical, and radiological follow-up over a three-year period.

During this period, the child achieved normal pubertal development without evidence of significant endocrine deficiencies, except for a subsequent identification of partial growth hormone (GH) deficiency. Growth velocity declined over time, from -0.8 SD to -1.1 SD, prompting further investigation. At age 14 years and 9 months, two GH stimulation tests were performed: a propranolol-glucagon test (peak GH: 19.3 µUI/ml) and an insulin tolerance test (peak GH: 10.0 µUI/ml), both indicating a partial GH deficiency. Following initiation of recombinant human growth hormone (rhGH) therapy, growth velocity improved significantly, rising from -1.1 SD to +0.2 SD over one year.

Serial MRI assessments confirmed stability of the RCC apoplexy, with dimensions evolving from 15×6×11 mm at baseline to 11×12×11 mm at two years and further to 7×10×6 mm at three years, indicating a slight but consistent reduction in size. All MRI studies were performed at the same imaging center using standardized protocols, and interpretation was consistently carried out by the same radiologist within multidisciplinary review meetings involving endocrinology and neurosurgery. The clinical course underscores the importance of long-term monitoring in pediatric patients with RCC apoplexy, particularly when no compressive or endocrine deficits are present at initial presentation, and highlights the potential for acquired GH deficiency as a late complication despite otherwise normal pubertal and endocrine development.


A 67-year-old male with no significant medical history presented with a six-month progression of dysphonia and dysphagia, culminating in a marked deterioration of general condition characterized by substantial weight loss of 15 kg over six months. Initial clinical examination revealed a conscious patient with a Glasgow Coma Scale score of 15/15, normothermia, blood pressure of 12/7 mmHg, oxygen saturation of 100%, heart rate of 80 beats per minute, and normal conjunctival color. A large mass was identified in the nasopharyngeal cavity, with no evidence of hepatomegaly, splenomegaly, or lymphadenopathy. Physical examination elsewhere was unremarkable.

Imaging via cervico-thoraco-abdomino-pelvic computed tomography (CT) demonstrated a nasopharyngeal mass measuring 70 mm × 40 mm, extending to 60 mm in depth. Laboratory investigations, including complete blood count, renal and hepatic function tests, lactate dehydrogenase (LDH), and serologies for HIV, hepatitis C virus (HCV), and hepatitis B virus (HBV), were all within normal limits. Histopathological and immunohistochemical analysis of the nasopharyngeal biopsy, performed in two independent laboratories, confirmed a diagnosis of grade 1–2 follicular B-cell non-Hodgkin lymphoma (NHL), characterized by CD20+, CD19+, CD79a+, and CD10+ immunophenotype, consistent with a follicular lymphoma of the B-cell lineage. Bone marrow biopsy and pre-treatment work-up were unremarkable, with no evidence of hematological involvement or systemic disease.

The patient underwent four cycles of R-CHOP chemotherapy (rituximab 375 mg/m² intravenously, cyclophosphamide 750 mg/m² intravenously, oncovin 2 mg intravenously, prednisolone 100 mg orally, doxorubicin 50 mg/m² intravenously), which resulted in no clinical or radiological response. Subsequently, three cycles of R-DHAOX chemotherapy (rituximab 375 mg/m² intravenously on day 1, high-dose aracytine 2 g/m² intravenously on day 2 administered over two days, dexamethasone 40 mg intravenously daily from day 1 to day 4, oxalipatin 100 mg/m² intravenously on day 1) were administered, but the nasopharyngeal mass persisted and progressively enlarged, leading to clinical instability and the need for tracheostomy due to airway compromise.

Repeat biopsy of the nasopharyngeal mass revealed a complete absence of B-lymphocyte infiltration and the presence of amyloid deposits of the AL type, specifically kappa light chain origin. Immunoelectrophoresis of plasma proteins demonstrated the presence of monoclonal immunoglobulin M kappa (IgMκ), suggesting a monoclonal gammopathy of undetermined significance (MGUS) or early-stage amyloidosis. Light chain quantification was not performed due to institutional resource limitations. Myelogram and a second bone marrow biopsy remained normal, excluding clonal plasma cell proliferation or bone marrow infiltration.

Positron emission tomography (PET) scanning confirmed a hypermetabolic nasopharyngeal lesion, consistent with active disease, with no evidence of metastatic spread to other organs. Cardiac evaluation (electrocardiogram, n-terminal pro-B-type natriuretic peptide, troponin, echocardiography) and renal function tests were unremarkable, indicating no significant organ dysfunction. The patient is currently receiving a triple-agent regimen of bortezomib, prednisone, and bendamustine, a protocol designed to target proteasome function and induce apoptosis in lymphoma cells, with reported favorable clinical response following the initial course. The clinical course reflects a complex, treatment-resistant presentation of follicular lymphoma with secondary amyloidosis, likely driven by chronic B-cell activation and monoclonal gammopathy, highlighting the importance of integrated immunological and histopathological assessment in such cases.


A 46-year-old man from Haiti who moved to Chile one year ago works with animals. For one year, he had warty bumps on the front of his right leg that grew bigger. At first, they didn’t hurt, but later he started feeling itching, pain, and the bumps began to break open with yellowish fluid. The bumps were about 1 cm to 3 cm in size. Doctors saw the bumps up close and noticed dark spots and red blood vessels. Blood tests were normal, and no signs of infections or other diseases were found. A small sample of the skin was checked and showed special round, thick-walled cells (called muriform cells) and black, fuzzy mold that grew in the lab. The mold looked like Fonsecaea, a type of fungus. He was treated for six months with a medicine called itraconazole, taken twice a day, and had cold treatment (cryotherapy) every 6 to 8 weeks on the thick parts of the bumps. The cold treatment helped the bumps go away. After six months, the bumps completely disappeared, and no new ones came back. There is a little darker skin left, which is normal after cryotherapy.


A 46-year-old Haitian man who had been living in Chile for one year presented with warty skin lesions on the front of his right leg that had been growing for about a year. He originally had a small bump that slowly became larger and, three months before visiting the doctor, started causing itching, pain, and a yellowish discharge. On exam, doctors saw several warty plaques ranging from 1 to 3 centimeters in size. Dermatoscopy showed thick, ulcerated skin with dark spots and red blood vessels. Blood tests were normal, and tests for infections like syphilis, HIV, and tuberculosis were negative. Skin tissue samples were taken and tested. The biopsy showed thickened skin and inflammation, with special cells called muriform cells — which are a sign of a fungal infection. Fungal culture grew black, velvety colonies, and direct microscopic examination found fungal structures typical of Fonsecaea species. The diagnosis was chromoblastomycosis, a rare fungal infection that affects skin and underlying tissue. The patient was treated with itraconazole (an antifungal drug) taken twice daily for six months, along with regular cryotherapy (freezing the lesions with liquid nitrogen) every six to eight weeks. He also used mupirocin ointment to prevent bacterial infections in areas that had broken open. After six months, the lesions completely went away, and there has been no return of the disease. The only remaining issue is mild skin lightening in the treated areas, which is expected after cryotherapy.


A 46-year-old Haitian male, residing in Chile for one year, presented with a one-and-a-half-year history of progressive cutaneous lesions initially manifesting as a papule on the anterior aspect of the right leg. The lesion evolved into multiple warty plaques measuring 1 x 1 cm, 2 x 2 cm, and 3 x 2 cm, with a history of asymptomatic onset followed by the development of pruritus, pain, superficial ulceration, and yellowish purulent discharge three months prior to presentation. Physical examination revealed phototype V skin, with characteristic hyperkeratotic, ulcerated plaques exhibiting reddish-black dots and congested hemorrhagic vessels on dermatoscopy. Laboratory evaluations, including VDRL, HIV, and PPD, were non-reactive, ruling out syphilis, HIV infection, and tuberculosis. Tissue sampling via punch biopsy (including epidermis, dermis, and subcutaneous tissue) was performed and processed for Gram staining, routine bacterial culture, and anaerobic culture, all of which were negative. Bacilloscopy and Koch complex culture of the same specimen were also negative, excluding mycobacterial and bacillary etiologies. Histopathological analysis using hematoxylin and eosin staining demonstrated pseudoepitheliomatous hyperplasia of the epidermis, with a mixed inflammatory infiltrate in the dermis containing suppurative foci and foreign-body giant cells. Within these giant cells, round, muriform cells with thick, brown-walled walls were observed, morphologically consistent with fungal muriform cells—specifically, those characteristic of Fonsecaea spp. This finding was further confirmed by periodic acid-Schiff (PAS) staining, which highlighted the intracellular fungal elements. Mycological culture on Sabouraud dextrose agar at 25°C yielded dematiaceous (black-pigmented), elevated, well-defined, velvety colonies after 15 days of incubation, consistent with chromoblastomycosis. Direct microscopic examination using 20% potassium hydroxide (KOH) revealed long, branched, sometimes tortuous hyphae and acropetal chains of conidia, which are pathognomonic for Fonsecaea spp. The diagnosis of chromoblastomycosis was thus established based on histopathological presence of muriform cells, dematiaceous fungal colonies, and conidial morphology compatible with Fonsecaea spp. The patient was treated with systemic itraconazole at a dose of 100 mg every 12 hours for six months, in conjunction with regular cryotherapy (liquid nitrogen application) to hypertrophic and ulcerated areas every six to eight weeks. Topical mupirocin ointment was applied frequently to manage bacterial superinfections arising from ulceration and erosion. The clinical course was favorable, with complete regression of the cutaneous lesions and no evidence of relapse at the time of follow-up. Persistent mild local hypopigmentation in the treated areas was observed, which is a known sequelae of cryotherapy-induced tissue damage and is expected in the context of repeated cryoprophylactic interventions. This case underscores the importance of recognizing chromoblastomycosis in patients with occupational exposure to soil and organic matter, particularly in agricultural settings, and highlights the efficacy of combined antifungal therapy and physical debridement in achieving durable clinical resolution.


A 19-year-old man had a painful lump in his scrotum for 8 months that didn’t go away with antibiotics. He also had fever, night sweats, loss of appetite, and lost weight. No one in his family had tuberculosis, but he was vaccinated at birth. The lump was removed and tested — it showed signs of tuberculosis in the tube-like part of the testicle. X-rays showed TB in his lungs, under his skin, in his lymph nodes, and in his spine and bones. He started TB medicine, but after 4 months, he had seizures. A brain scan found small TB lumps in his brain. He got medicine for seizures and kept taking TB medicine. His symptoms got better, the body parts healed, and he gained weight. The brain lumps slowly got smaller, so he kept taking TB medicine for a long time. After 19 years of treatment, he was fully healed with no long-term problems.


A 19-year-old man with no prior medical problems was admitted to the hospital with a painful lump in his left scrotum that had been growing for 8 months. The lump didn't go away with antibiotics, and he also had symptoms like low-grade fever, night sweats, loss of appetite, and unexplained weight loss. He had no history of tuberculosis in his family or personal history, and he was vaccinated at birth.

Exams showed a large, tender lump in the scrotum and two firm lumps on his chest. His blood tests were mostly normal, except for a high level of inflammation. A chest X-ray showed signs of lung infection.

He had surgery to remove the scrotal lump, and the tissue test showed signs of tuberculosis in the epididymis — a part of the testicle. A skin test for tuberculosis was positive, and no bacteria were found in his sputum or urine. Other tests ruled out HIV, hepatitis, and other infections.

Imaging scans found tuberculosis in other parts of his body, including his lungs, lymph nodes, chest walls, and spine. This was diagnosed as widespread tuberculosis affecting multiple areas.

He started standard tuberculosis treatment with several medicines for two months, then continued with two of them. After four months of treatment, he began having seizures. A brain MRI showed small nodular lesions — called tuberculomas — in his brain, which are caused by tuberculosis.

He was started on anti-seizure medication along with continuing his tuberculosis treatment. His overall condition improved, he gained weight, and the other signs of infection gradually disappeared. The brain tuberculomas slowly shrunk, and he remained seizure-free. He completed treatment after 234 months (about 19 years) and was declared cured with no long-term effects, even after a two-year follow-up.


A 19-year-old male with no significant medical history presented with a painful left scrotal mass that had persisted for 8 months without improvement following empiric antibiotic therapy for pyogenic infection. He reported intermittent low-grade fever, night sweats, anorexia, and unexplained weight loss since symptom onset, with no history of cough, sputum production, or hemoptysis. There was no personal or familial history of tuberculosis, and he had received routine bacillus Calmette-Guérin (BCG) vaccination at birth. Physical examination revealed a large, tender, slightly warm left scrotal bursa and two elongated, firm, poorly defined subcutaneous masses in the anterior thoracic wall measuring 3–4 cm in length, without audible rales on lung auscultation. The remainder of the systemic examination was unremarkable. Laboratory investigations demonstrated a markedly elevated c-reactive protein (CRP) of 90 mg/dL, while complete blood count, serum creatinine, blood glucose, and liver function tests remained within normal limits. Standard chest X-ray revealed bilateral reticulonodular infiltrates consistent with pulmonary parenchymal involvement.

Ultrasound imaging suggested a tuberculous epididymal lesion, prompting a left orchidectomy. Histopathological examination of the resected tissue demonstrated granulomatous epithelioid cell necrosis involving the body and tail of the epididymis, with preservation of the head and testicular tissue, consistent with active epididymal tuberculosis. The intradermal tuberculin skin test (TST) was positive, supporting a diagnosis of latent or active tuberculosis. Direct microscopy and culture for acid-fast bacilli (AFB) in sputum and urine over three consecutive days were negative, indicating a lack of detectable bacilli in these specimens. Serological testing for human immunodeficiency virus (HIV), hepatitis B virus (HBV), hepatitis C virus (HCV), and Wright's stain for parasitic infection were all negative, ruling out alternative infectious or hematological etiologies.

To evaluate for extrapulmonary dissemination, a thoraco-abdomino-pelvic tomodensitometry was performed, revealing miliary tuberculosis, coelo-mesenteric necrotic lymphadenopathy, bilateral parietal collections (right: 33 × 10 mm; left: 45 × 10 mm) at the level of the external oblique muscles, and focal osteolytic lesions at D11 and L5, suggestive of early spondylodiscitis. Magnetic resonance imaging (MRI) of the spinal cord confirmed active spondylodiscitis at D7, D11, L4, and L5, confirming the presence of spinal tuberculous infection. This constellation of findings led to a definitive diagnosis of disseminated tuberculosis involving epididymal, pulmonary, parietal, lymphatic, and osteoarticular sites.

The patient was initiated on a standard anti-tuberculous regimen consisting of a four-drug intensive phase (isoniazid, rifampicin, ethambutol, and pyrazinamide) for 2 months, followed by a continuation phase of isoniazid and rifampicin. At the 4th month of therapy, the patient developed generalized tonic-clonic convulsive seizures. A brain MRI was performed, which revealed multiple nodular lesions located both above and below the tentorial membrane, consistent with tuberculomas—granulomatous lesions caused by Mycobacterium tuberculosis that have infiltrated the central nervous system. The patient was promptly started on anticonvulsant therapy in addition to continuing anti-tuberculous treatment. Clinical and radiological follow-up demonstrated a favorable evolution: improvement in general condition, weight gain, and resolution of thoracic parietal collections, lymphadenopathy, and miliary infiltrates on imaging. However, the tuberculomas showed a slow, progressive reduction in size, necessitating prolonged continuation of anti-tuberculous therapy. The patient was ultimately declared cured at the end of 234 months (approximately 19.5 years) of treatment, with a 2-year post-treatment follow-up showing no recurrence of clinical or radiological manifestations and no neurological sequelae. This case exemplifies the potential for disseminated tuberculosis to present with extrapulmonary manifestations, including epididymal involvement, and to progress to central nervous system disease, requiring multidrug therapy and long-term management to achieve complete resolution.


A 10-year-old boy was getting chemotherapy for a serious type of cancer called leukemia. During the treatment, he got a bad infection in his brain caused by a type of bacteria called B. cereus. Doctors found it using brain scans and a fluid test from his spine. He got antibiotics and felt better over time. The infection went away, and his brain scans showed the spots shrinking. He didn’t have any more problems after that.


A 10-year-old boy was treated for acute lymphoblastic leukaemia, a type of cancer that affects white blood cells. During the early stages of treatment, he developed a cerebral abscess — a serious infection in the brain — caused by a bacteria called B. cereus. This was found using brain imaging and by testing the fluid around the brain (cerebrospinal fluid). Although the infection was severe, he responded well to antibiotics and made a full recovery. His symptoms, including a bad headache, improved over time, and follow-up scans showed the infection had gone away.


We present a case of a 10-year-old male with high-risk early T-cell acute lymphoblastic leukaemia (ALL), managed according to the LAL SEHOP-PETHEMA 2013 protocol. Two years post-diagnosis, he experienced an early central nervous system (CNS) relapse, prompting intervention under the InteReALL HR 2010 protocol, which included bortezomib. During induction therapy, the patient became neutropenic for four weeks (neutrophil count: 20/μL), and was administered prophylactic antimicrobials: cefepime, cotrimoxazole, and fluconazole. Additionally, he was treated with acyclovir for a cutaneous herpes simplex virus type 1 (HSV-1) infection. On presentation, he developed a severe, refractory headache, prompting a cranial computed tomography (CT) scan that revealed a hypodense lesion in the right temporal lobe. Given the infectious differential, a lumbar puncture was performed, and empirical therapy was escalated from cefepime to meropenem and vancomycin.

Despite being afebrile, the patient rapidly progressed to septic shock on day one of hospital admission, requiring transfer to the paediatric intensive care unit (PICU) for inotropic and vasoactive support. Antimicrobial coverage was broadened to include gentamicin and caspofungin. Laboratory findings demonstrated a progressive rise in inflammatory markers: C-reactive protein (CRP) reached 312 mg/L and procalcitonin peaked at 47.58 ng/mL on day three, consistent with a severe bacterial infection, while no significant biochemical abnormalities were otherwise observed. Complete blood count revealed pancytopenia, attributable to chemotherapy-induced bone marrow suppression. Blood cultures were negative for bacteremia and fungemia; herpesvirus serologies (HSV-1, HSV-2, HSV-6, cytomegalovirus, varicella-zoster virus, enterovirus, parechovirus) and urine/fecal cultures were also negative, excluding common systemic pathogens.

Cerebrospinal fluid (CSF) analysis showed normal glucose (63 mg/dL), protein (16 mg/dL), and leukocyte count (1/µL), indicating a non-inflammatory, non-lymphocytic process. However, microbiological testing identified *Bacillus cereus* in the CSF, which was susceptible to meropenem, vancomycin, linezolid, and ciprofloxacin. All other potential CNS pathogens—including *Neisseria meningitidis*, *Listeria monocytogenes*, *Streptococcus pneumoniae*, *Cryptococcus*, and toxoplasma—were ruled out by PCR and serological assays. Electroencephalography (EEG) revealed diffuse slowing of cortical activity without epileptiform discharges, suggesting a non-epileptic, neuroinflammatory or infectious process.

On day 4, following stabilization of hemodynamics, cranial magnetic resonance imaging (MRI) demonstrated two hyperintense lesions on T2 and FLAIR sequences in the subcortical regions of the right temporal and parietal lobes. The parietal lesion exhibited ring enhancement after gadolinium administration, and both lesions demonstrated peripheral diffusion restriction on apparent diffusion coefficient (ADC) mapping, consistent with bacterial abscess formation. Small, scattered haemorrhagic foci were also observed within the brain parenchyma, further supporting a bacterial etiology. The imaging and CSF findings collectively supported a diagnosis of *Bacillus cereus* cerebral abscess.

The patient responded favorably to antibiotic therapy, with resolution of headache and absence of new neurological deficits. Follow-up MRI at two weeks showed significant reduction in lesion size. Vancomycin and acyclovir were discontinued after three weeks, and meropenem was continued for a total of six weeks. The clinical course was favorable, with no evidence of CNS relapse or persistent infection. This case highlights the potential for atypical bacterial pathogens, such as *B. cereus*, to cause CNS infections in immunocompromised pediatric patients undergoing intensive chemotherapy, even in the absence of fever or systemic signs of sepsis, underscoring the importance of early neuroimaging and CSF analysis in high-risk ALL patients with unexplained neurological symptoms.


A 16-year-old girl has a flat, gray spot on her left thigh that's been there since birth. The spot is about 10.5 cm wide and 8.0 cm long, and it has dark and light areas. Around the edge, you can see small blood vessels. The spot has changed over time — it used to be a deep purple color, but now it's lighter and lower. A scan showed that the spot has extra blood vessels in the skin and layer under the skin, connected to a major blood vessel in the leg. These vessels are sending blood early, which means blood is flowing through them too fast. There's a small vein running under the skin on the front of the thigh, and the skin layer is thinner in that area, but nothing has spread into the muscle or bone. Her legs are the same length, so there's no problem with balance or movement.


16-year-old female presenting with a depressed gray plaque measuring 10.5 × 8.0 cm located in the lower lateral aspect of the left thigh, characterized by interspersed hypochromic areas and peripheral telangiectatic vessels, including visible superficial veins adjacent to the lesion. The lesion has been present since birth and initially appeared violaceous; over time, it has undergone progressive lightening and depression. No discrepancy in lower limb length was observed, ruling out significant skeletal involvement. Angioresonance imaging revealed vascular malformations involving the skin and subcutaneous tissue, specifically supplied by intermuscular branches of the popliteal artery. Early venous filling was detected both within the lesion and in the surrounding tissue, indicating early venous shunting, a hallmark of venous-type vascular malformations. No markedly dilated draining veins were identified, although a superficial draining vein was observed coursing along the subcutaneous cellular tissue of the anterior thigh. Histopathological and imaging findings demonstrate thinning of the subcutaneous tissue in the region of the vascular alteration, consistent with chronic vascular pressure and tissue remodeling, without evidence of intramuscular or bony extension. The clinical and imaging profile supports a diagnosis of a venous or venous-lymphatic vascular malformation with early venous shunting, likely arising from aberrant vascular branching from the popliteal artery's intermuscular branches, and evolving over time with pigmentary and topographic changes consistent with chronic venous congestion and tissue atrophy.


A 57-year-old woman with a long history of asthma and allergic rhinitis came in with recurring abdominal pain that had been going on for two months. The pain was dull and intermittent, along with nausea, loss of appetite, and a 5-kilogram weight loss. She had no fever, no blood or mucus in her stool, and no signs of infection in her lungs or other organs. Tests showed very high levels of eosinophils (a type of white blood cell) in her blood, and her IgG4 levels were also elevated. After ruling out infections, allergies, and other conditions, a biopsy of her colon tissue showed a large number of eosinophils in the lining of the colon, confirming a diagnosis of eosinophilic colitis (EoC). She was treated with corticosteroids and montelukast, and her symptoms improved within two weeks. Her eosinophil levels returned to normal, and after stopping the steroids, she continued on montelukast for three months without any recurrence of symptoms.


{
  "proficient_health_literacy": "A 57-year-old woman with a 14-year history of asthma and allergic rhinitis, managed on salmeterol/fluticasone, was hospitalized for recurrent abdominal pain initiating two months prior. The pain was intermittent, dull, and associated with nausea, anorexia, malaise, and a 5 kg weight loss. No fever, blood or mucus in stool, or respiratory symptoms (rhinorrhea, wheezing, cough) were present. She had no history of alcohol, tobacco, or herbal medicine use. Six weeks before admission, she was diagnosed with an intestinal infection based on a complete blood count (CBC) showing leukocytosis and marked eosinophilia (25.61 G/L, 77.8% eosinophils); treatment with antibiotics and mebendazole failed to alleviate symptoms. On presentation, vital signs were stable (BP 110/70 mmHg, T 37°C, HR 88 bpm, RR 18 bpm), with a BMI of 16.6 kg/m² and clinical evidence of sarcopenia, but no skin rash, lymphadenopathy, or edema. Abdominal examination revealed tenderness in the epigastric and umbilical regions without guarding. Repeat CBC demonstrated persistent leukocytosis and significant eosinophilia (20.8 G/L, total WBC 26.8 G/L, 77.8% eosinophils), with peripheral blood film showing normal eosinophil morphology. Bone marrow aspiration revealed 48% eosinophils without blasts or atypical cells, suggesting a clonal or tissue-specific eosinophilic proliferation rather than hematologic malignancy. Fluorescence in situ hybridization (FISH) for CHIC2 deletion, a surrogate marker for FIP1L1-PDGFRA fusion in eosinophilic disorders, was negative, ruling out classic myeloid neoplasms such as eosinophilic leukemia or hypereosinophilic syndrome (HES) with PDGFRA rearrangement. Autoimmune and vasculitic panels (ANA, anti-dsDNA, p-ANCA, c-ANCA) were negative, excluding systemic autoimmune or inflammatory conditions. Serum immunoglobulins showed elevated IgG (2760 mg/dL; normal 700–1600 mg/dL) and IgG4 (1260 mg/dL; normal 3.9–86.4 mg/dL), with a mild elevation in IgE (137.5 IU/mL; normal <100 IU/mL) and a high rheumatoid factor (RF 144.4 IU/mL; normal <20 IU/mL), suggesting a possible IgG4-related disease (IgG4-RD) phenotype, though not sufficient for definitive diagnosis. All other laboratory parameters—including aminotransferases, blood urea nitrogen, serum creatinine, complement C3/C4, vitamin B12, serum cortisol, and NT-proBNP—were within normal limits. ECG and echocardiogram were unremarkable. Chest CT demonstrated mild interstitial fibrosis and bronchiectasis, consistent with chronic airway inflammation. Sputum acid-fast bacilli (AFB) smear and bronchoscopy were negative; bronchoalveolar lavage (BAL) cytology revealed 35% neutrophils and no eosinophils, indicating a lack of pulmonary eosinophilic infiltration. Spirometry confirmed severe airflow obstruction with a significant bronchodilator response, supporting persistent airway inflammation. Fractional exhaled nitric oxide (FeNO) was 15 ppb, a marker of eosinophilic airway inflammation. Stool analysis was positive for leukocytes, with no ova or parasites. Serology for toxocariasis was positive (IgG to Toxocara canis at 54.2 NovaTec-Units), while tests for Strongyloides stercoralis, Fasciola sp., Toxoplasma gondii, Trichinella spiralis, Ancylostoma sp., Angiostrongylus cantonensis, Ascaris lumbricoides, Clonorchis sinensis, Paragonimus sp., Gnathostoma sp., Entamoeba histolytica, cysticercosis, filariasis, and HIV were negative, excluding parasitic etiologies. Abdominal contrast-enhanced CT showed gallbladder stones without acute cholecystitis and no structural abnormalities in the gastrointestinal tract. Upper gastrointestinal endoscopy was unremarkable. Colonoscopy revealed mucosal inflammation in the sigmoid, left, transverse, and right colon, prompting systematic biopsies. A five-day course of albendazole


A 35-year-old man had a heart problem that got worse over time. At first, he had chest tightness and shortness of breath after activity. Doctors found a soft, lump-like growth in his heart (called a cardiac myxoma) and saw that his heart was getting bigger and weaker. This condition, called Carney syndrome, also showed up in his skin (brown spots on his ears) and kidneys. He didn’t have surgery at first, even though his symptoms got worse. By then, his heart was failing badly — he couldn’t lie down and had to sit up to breathe. His heart was enlarged, pumping poorly, and had an irregular rhythm. Doctors said he had both a heart tumor and a weak heart (dilated cardiomyopathy). Because his heart was too damaged, they decided on a heart transplant. The new heart was matched and given right away. The surgery worked well — the new heart started beating normally, and the old heart lump was removed. After the surgery, he started taking medicine to prevent his body from rejecting the new heart and to fight infection. His body healed fast. A few weeks later, his heart was strong again, and all his test results were normal. He’s now doing well and going back to his normal life.


A 35-year-old man was diagnosed with heart failure caused by a rare condition called Carney syndrome. This condition leads to the growth of a non-cancerous tumor (called a cardiac myxoma) in the heart and also causes the heart muscle to weaken, a condition known as dilated cardiomyopathy. Three years ago, he first visited the hospital with sudden chest tightness and shortness of breath. An ultrasound of his heart showed a tumor, and further tests confirmed Carney syndrome. He was treated for symptoms but did not have surgery at that time. Over time, his symptoms got worse. By the time he returned to the hospital, his heart function was severely damaged — rated as New York Heart Association (NYHA) Grade IV — meaning he could not lie down or breathe comfortably without sitting up. New tests showed both the tumor and weakened heart muscle. Because of this advanced heart failure, doctors decided on heart transplantation. On October 1, 2024, he received a new heart from a donor. The surgery involved opening the chest, removing the damaged heart tissue, and attaching the new heart. The procedure was successful, and the new heart began working properly. After surgery, he received medicines to prevent rejection and fight infection. His recovery was good, and by October 20, 2024, his heart function had returned to normal. Follow-up tests showed no signs of problems, and he is now doing well and living a normal life.


{
  "proficient_health_literacy": "A 38-year-old male presented with recurrent episodes of chest tightness and dyspnea, initially occurring post-exertion three years prior. Outpatient echocardiography revealed a left atrial echogenic mass suggestive of a cardiac myxoma, prompting hospital admission for comprehensive evaluation. Physical examination identified cutaneous pigmentation in the ears, manifesting as multiple small brown and black macules, consistent with cutaneous manifestations of Carney Complex (CNC). Abdominal computed tomography (CT) demonstrated multiple hepatic lesions and small cystic formations in the left kidney, further supporting the diagnosis. Genetic analysis confirmed biallelic pathogenic variants in both the TTN (titin) and PRKAR1A genes, which are associated with sarcomatous and myxomatous tissue overgrowth in CNC. The diagnosis of Carney syndrome was established through integration of clinical features, imaging findings, and molecular genetic testing.\n\nThe patient's symptoms progressively deteriorated, culminating in a presentation on September 20, 2023, with severe dyspnea, orthopnea, and paroxysmal nocturnal dyspnea. Physical examination revealed jugular venous distension, leftward and inferior cardiac border displacement, irregular heart rhythm (auscultated as atrial fibrillation), a mitral valve murmur of intensity 2/6–3/6 at the fourth intercostal space along the left sternal border, and bilateral wet rales in the mid-to-lower lung zones. Abdominal examination showed a firm liver palpable three fingers below the xiphoid process and two fingers below the costal margin, with bilateral mild pitting edema. Echocardiography demonstrated global left ventricular (LV) dilation, enlargement of the aortic sinus and pulmonary artery, small-to-moderate mitral regurgitation, and a well-defined, echogenic mass measuring 54 mm × 43 mm attached to the atrial septum. Left ventricular ejection fraction (LVEF) was 23.1%, with fractional shortening (FS) of 10.9%, indicating severe systolic dysfunction. Electrocardiography confirmed atrial fibrillation with an average ventricular rate of 150 beats per minute and abnormal Q waves in leads V1–V3, suggesting prior myocardial injury or infarction.\n\nThe clinical picture was consistent with both dilated cardiomyopathy (DCM) and cardiac myxoma in the context of Carney syndrome. Given the presence of end-stage heart failure and a large, potentially obstructive myxoma, heart transplantation was deemed the most appropriate therapeutic intervention to simultaneously address both the structural and functional cardiomyopathy. On October 1, 2024, a suitable donor heart became available, and the patient underwent elective cardiac transplantation via median sternotomy. The surgical approach involved layer-by-layer incision of the skin and subcutaneous tissue, followed by longitudinal sawing of the sternum with controlled bleeding via electrocoagulation and bone wax. Extracardiac exploration revealed global cardiac enlargement, with marked left ventricular dilation and diminished contractile function. The aorta and main pulmonary artery (PA) were dissected from the supravalvular region. Diseased atrial and ventricular tissue—including the right atrium, left atrium (LA), right ventricle, and left ventricle—was excised, while preserved segments were retained for anastomotic reconstruction. The resected mass was characterized as a greyish-white, mucoid, non-encapsulated lesion, consistent with a myxoma.\n\nAnastomotic procedures included double continuous 3/0 Prolene sutures for end-to-end closure of the donor and recipient left atria. The donor ascending aorta was anastomosed to the recipient's pulmonary artery using continuous 5/0 Prolene sutures, with meticulous inspection confirming no intraoperative bleeding. The donor and recipient inferior vena cavae were closed with 5/0 Prolene sutures, and the superior vena cavae were similarly sutured with 5/0 Prolene, with multiple inspections performed to ensure hemostasis. Following cardiac reperfusion, the ascending aorta was unclamped, and spontaneous return to sinus rhythm was observed upon rewarming. Postoperative tissue specimens from the patient’s left heart and gray matter were collected for histopathological analysis, confirming the presence of both dilated cardiomyopathy and cardiac myxoma.\n\nPostoperative management commenced with aggressive hemodynamic stabilization. On postoperative day 1, urine output reached 1200 mL. Laboratory findings included a hypersensitive troponin T level of 796.70 ng/L and NT-proBNP of 10798 pg/mL, indicative of myocardial


A 2.5-year-old girl with a known condition called NF1 has been having diarrhea with blood in it for a few weeks. Doctors saw her colon inside her body and found red, swollen lining from the bottom of her rectum all the way to the start of her large intestine. The tissue samples showed long-term inflammation, and tests confirmed she has a virus called CMV that can cause this kind of damage. This is like having a chronic infection in her gut, similar to ulcerative colitis. She is being treated with medicines to reduce inflammation and control the virus. Her symptoms have improved, but she still has some ongoing issues and needs regular care.


{
  "proficient_health_literacy": "A 2-year-6-month-old female pre-schooler with a confirmed diagnosis of neurofibromatosis type 1 (NF1) presented with a 4-week history of bloody diarrhea, characterized by 5 to 10 episodes of blood-streaked stools per day. Initial evaluation in the emergency department revealed rotavirus infection (positive), with normal inflammatory markers, negative coproculture, and normal abdominal ultrasound. The patient was hospitalized for 3 days to manage dehydration and discharged without active bleeding, though persistent semi-liquid stools remained. Ten days post-discharge, she developed recurrent bloody diarrhea associated with reduced oral intake and a 1 kg weight loss, prompting referral to a pediatric gastroenterologist. A polymerase chain reaction (PCR) panel for gastrointestinal pathogens and PCR for *Clostridium difficile* were both negative, leading to hospitalization for further investigation.\n\nThe patient has a known heterozygous pathogenic variant in the *NF1* gene (c.5606_5627del, p.Gly1869Valfs*28), diagnosed at 8 months of age. She exhibits classic skin manifestations (café au lait spots) and skeletal abnormalities, including tibial curvature requiring ankle arthrodesis at 18 months. There is no family history of NF1 or inflammatory bowel disease (IBD). Physical examination revealed a soft, non-distended abdomen with increased air-bubble murmurs, no masses or visceral enlargement, and normal perianal inspection. Multiple brown-coffee stains were noted on the lower extremities and back, consistent with NF1-related pigmentation.\n\nLaboratory findings included moderate microcytic-hypochromic anemia (Hb 9.6 g/dL), leukocytosis with left shift (leukocytes 13,900), and mildly elevated inflammatory markers (CRP 1.37 mg/dL, above the normal cutoff of 0.5 mg/dL). Colonoscopy extended from the anal margin to the cecum, including the ileocecal valve and appendicular orifice, with inspection of the terminal ileum. The mucosa from the anal margin to the cecum was erythematous with loss of vascular transparency, a feature not observed in the cecal mucosa, which appeared normal. No focal lesions were identified in the anal canal or cecum.\n\nHistopathological analysis of intestinal biopsies revealed preserved villous architecture and adequate epithelial differentiation in the ileal mucosa with a non-inflamed lamina propria. In the colonic mucosa, there was mild architectural distortion, swollen lamina propria with a mild mixed inflammatory infiltrate, hyperplasia of reactive lymphoid follicles, and isolated microabscess foci—consistent with mild chronic colitis. A PCR assay for cytomegalovirus (CMV) on colonic biopsy was positive. Subsequent serological testing confirmed positive CMV IgG, negative IgM, and a blood viral load of 79.7 IU/mL, indicating past exposure and current viremia. Stool PCR for gastrointestinal pathogens and *C. difficile* remained negative. Gram stain of the biopsy showed +++ leukocytes without bacteria; culture identified low levels of *Streptococcus gallolyticus/equinus* complex, interpreted as normal bacterial flora. Additional microbiological tests (acridine orange, Ziehl-Neelsen, Koch culture, and adenovirus PCR) were negative.\n\nEndoscopic and histological findings were consistent with ulcerative colitis (UC), with moderate clinical activity (PUCAI score of 50). The patient was initiated on mesalazine (70 mg/kg/day, three times daily) and a fecal calprotectin level greater than 600 μg/g was obtained, supporting active intestinal inflammation. An immunology workup was performed to evaluate for potential immunodeficiency, including lymphocyte subpopulations (normal), immunoglobulin levels (normal), HIV (negative), memory T-cell analysis (showing expected alterations in the context of CMV viremia), and lymphoproliferation test (normal). A comprehensive genetic panel for primary immunodeficiencies (Invitae, comprising 429 genes, including 68 associated with monogenic inflammatory bowel disease) was performed, yielding seven variants of uncertain significance, none of which were implicated in monogenic IBD.\n\nThe patient was treated with intravenous ganciclovir for CMV infection, administered for 15 days, with subsequent PCR monitoring showing undetectable viral load prior to discharge. Clinical improvement was noted during hospitalization: decreased stool frequency, improved consistency, resolution of rectal bleeding, absence of nocturnal stools or abdominal pain, and a PUCAI score of 0 at discharge.\n\nTwo months later


A 40-year-old HIV-positive male with sustained antiretroviral therapy adherence—documented viral load of 4500/mm³ and CD4 count of 70/mm³ from the prior year—presented with a two-year history of intermittent febrile episodes that were non-cyclic and refractory to standard antipyretic and non-steroidal anti-inflammatory drug (NSAID) therapy. Over the preceding two months, he developed progressive diffuse abdominal pain, with a predominant localization in the upper right quadrant, accompanied by the clinical appearance of a 'tree-in-bud' pattern on imaging, consistent with bronchial tree branching, and bilateral pleural effusion. Abdominal imaging revealed marked hepatosplenomegaly and the development of ascites. Laboratory evaluation demonstrated pancytopenia, coagulopathy, hypoalbuminemia, and elevated acute-phase reactants, indicating systemic inflammation and possible immune dysregulation. Computed tomography (CT) of the thorax, abdomen, and pelvis confirmed generalized lymphadenopathy and hepatosplenomegaly, with no evidence of focal infection or malignancy on initial imaging. Multiple microbiological assays, including culture-based detection of Mycobacterium species from blood, urine, and lymph node specimens, were negative; however, RT-PCR for Human Herpesvirus 8 (HHV-8) was positive, suggesting possible association with HHV-8-related lymphoproliferative disorders. A left iliac ganglion biopsy was performed, which revealed histopathological features consistent with multicentric Castleman’s disease, a lymphoproliferative disorder characterized by abnormal proliferation of lymphoid tissue and cytokine overproduction, particularly interleukin-6 (IL-6), leading to systemic inflammation and hematological abnormalities. Despite re-initiation of antiretroviral therapy, clinical deterioration progressed, prompting the administration of corticosteroids to suppress cytokine activity and ganciclovir to target potential HHV-8 reactivation. Within 24 hours, the patient developed multiple organ failure, including fulminant hepatic failure, and anasarca, which contraindicated continued use of immunosuppressive agents. A new chest CT demonstrated upper right lobe parenchymal infiltrates with a tree-in-bud pattern and bilateral pleural effusion, consistent with a pulmonary manifestation of underlying lymphoid hyperplasia or infection. Abdominal findings showed further progression of hepatosplenomegaly and ascites. The patient was transferred to the intensive care unit (ICU) 48 hours after symptom onset and succumbed to fulminant hepatic failure within hours of admission. Postmortem analysis of tracheal aspirate culture yielded a positive result for Mycobacterium tuberculosis, confirming latent or active pulmonary tuberculosis as a contributing infectious agent. Liver biopsy revealed non-necrotizing granulomas, consistent with a tuberculous etiology, while the parenchymal architecture remained largely preserved, indicating that the primary pathology was not necrotizing or fulminant. This case illustrates the complex interplay between HIV-associated immunodeficiency, lymphoproliferative disorders such as Castleman’s disease, and opportunistic infections like tuberculosis, where overlapping inflammatory and infectious processes may lead to rapid clinical deterioration. The findings align with the principles of the World Health Organization (WHO) Helsinki Declaration regarding ethical conduct in human research and clinical investigation.


{
  "proficient_health_literacy": "A 4-month-old indigenous lactating female infant from the rural interior of Panama, specifically from Urracá, approximately 3 hours by canoe from the nearest health subcenter, presented with acute gastroenteritis and moderate-to-severe dehydration due to protein-caloric malnutrition. The infant was the fourth daughter, born via vaginal delivery at home by a relative without prenatal care; birth weight, height, and Apgar score are unknown. She did not receive breast milk and was exclusively fed powdered milk formula with iron (3 ounces every 4 hours), which is inappropriate for infants under 6 months of age. The household consisted of six members (parents and four children), living in a two-room structure with board walls and palm roof, no electricity, kerosene lighting, well water, and open defecation into a river; economic activity was based on subsistence agriculture. No primary health care was accessed during the first four months of life, and the national expanded programme of immunizations was not administered. Parents reported normal neurodevelopment prior to hospitalization.\n\nThe infant presented to a primary health center with a 4-day history of diarrhea without mucus or blood, associated with vomiting of food content; the mother substituted tea for milk due to intolerance. The patient was afebrile and without respiratory symptoms. Initial management included oral rehydration with lactate Ringer's solution (10 ml/kg) and four doses of Enterogermina® (2 billion spores/5 mL), a probiotic containing *Bacillus clausii*. Due to lack of intravenous access (no catheters or intraosseous routes), the patient was transferred to a second-level hospital in the provincial capital and subsequently to a tertiary care facility in Panama City, diagnosed with acute gastroenteritis and severe dehydration.\n\nOn presentation to the emergency department, the infant exhibited signs of profound dehydration: tearless cry, dry oral mucosa, and +++ edema in hands, feet, abdomen, and face. Vital signs included afebrile state, tachycardia (HR 170 bpm), tachypnea (RR 55 bpm), hypotension (BP 91/37 mmHg), oxygen saturation 99%, and signs of shock (capillary refill >2 seconds, cold extremities, filiform pulse, marble skin). Admission weight was 4.7 kg, height 56 cm; height Z-score was -2.52, while weight/height and weight/age Z-scores were unquantifiable due to severe dehydration. Physical examination revealed fine crepitus in both lung bases, erythematous-squamous skin lesions with desquamation, and hypopigmented patches on trunk and upper limbs, interpreted as pellagroid dermatosis, likely secondary to vitamin B3 deficiency.\n\nInitial resuscitation included 10 ml/kg lactate Ringer's bolus, followed by 500 mL of 5% dextrose in 0.33% saline infused at 29 mL/h over 6 hours without potassium chloride until diuresis was achieved. Empiric antibiotic therapy was initiated with ceftriaxone 50 mg/kg/day for suspected sepsis. The patient was stabilized and transferred to the ward, where she received 500 mL of 5% dextrose in 0.9% saline at 20 mL/h. Laboratory findings included leukocytosis (39.0 × 10³/μL), severe anemia (5.6 g/dL), and thrombocytosis (502 × 10³/μL). She received a transfusion of 50 mL of filtered, leuko-reduced red blood cells and 40 mL of fresh frozen plasma due to coagulation abnormalities. Enteral feeding was initiated via nasogastric tube, and fluid infusion was reduced to 15 mL/h of 5% dextrose in 0.9% saline, maintained with negative water balance.\n\nOn day 2, initial peripheral blood culture revealed Gram-positive cocci in clusters, interpreted as *Staphylococcus aureus*. Oxacillin was initiated at 200 mg/kg/day, ceftriaxone was escalated to 75–100 mg/kg/day, total fluid replacement increased to 120 mL/kg/day, and calcium was corrected (to 6.38 mg/dL). On day 3, venous access was lost, necessitating placement of a central venous catheter (CVC). The patient remained hypovolemic with subhydric oral mucosa, increased respiratory work, cold extremities, and capillary refill time of 3–4 seconds. A 20 mL/kg lactate Ringer's load was administered over one hour


A 2-year-old girl had a bump in her eye that grew over a year, making her eye stick out and move inward and upward. Her eye didn’t work well, and her pupil was big and didn’t react. Doctors found a soft lump inside her eye socket using MRI, which looked like a mix of brain, cartilage, and other tissues. The lump was removed through a small cut in the lower eyelid, and a little fluid was taken out. After surgery, her eye sank back in (enophthalmos), her eyelid got red, and her cornea got inflamed because the space inside the eye changed. A second surgery was done to put in a piece of donated eye tissue (sclera) to fill the space, which helped fix the redness and kept the cornea healthy. One year later, the lump didn’t come back, and her eye looked and worked better. She still has a small eye sink and a slight eyelid issue, but her vision is the same as before.


A 2-year-old female presented with a 1-year history of painless, progressive left-sided proptosis, without associated systemic illness or familial predisposition. Ophthalmologic examination revealed preserved light sensation as the sole visual input in the left eye, accompanied by marked proptosis, inward and upward displacement of the globe, and restricted downward and outward extraocular muscle movements. A palpable, irregularly shaped, well-circumscribed soft mass was identified in the inferior orbit, associated with left lower eyelid ectropion. The pupil measured 4 mm in diameter and exhibited absent pupillary reaction. Anterior segment evaluation showed no other abnormalities; fundus assessment was limited by the child's small size. Hertel exophthalmometry demonstrated a right eye measurement of 10.5 mm and a left eye measurement of 18 mm, indicating significant orbital expansion. Magnetic resonance imaging (MRI) revealed a well-defined orbital mass with hypointense signal intensity on T1-weighted images (T1WI) and hyperintense signal intensity on T2-weighted images (T2WI), consistent with a cystic lesion containing heterogeneous tissue components. Contrast-enhanced MRI showed no significant enhancement, suggesting a non-vascularized or low-vascularity lesion. A transconjunctival approach via the inferior fornix was employed, with concomitant canthotomy and cantholysis to facilitate access. Intraoperative findings included a grayish-white, cystic mass with a distinct boundary from surrounding orbital tissues. During posterior dissection, tight adhesion of the mass to the optic nerve was observed, indicating prior inflammatory or fibrotic interaction. Given the substantial size of the mass and the limited surgical field, volume reduction was necessary. Approximately 12.5 mL of fluid was aspirated, and the entire mass was completely excised. Histopathological examination confirmed the presence of a fibrous capsule lined with squamous and glandular epithelium, along with identifiable brain tissue and a cartilage-like matrix, consistent with a true orbital teratoma. Immunohistochemical analysis further supported the diagnosis by demonstrating positive staining for markers such as cytokeratin, S-100 protein, and glial fibrillary acidic protein (GFAP), reflecting the pluripotent origin of the teratoma. Postoperatively, at one month, the patient developed enophthalmos, conjunctival hyperemia, and keratitis. This clinical deterioration was attributed to the preoperative enlargement of the orbital cavity by the teratoma, resulting in a loss of orbital volume and subsequent postoperative orbital collapse. The cornea failed to maintain apposition to the eyelids, leading to a corneal exposure and subsequent inflammation. With informed consent from the patient’s guardian, a secondary surgical intervention was performed involving the implantation of allogeneic scleral tissue into the orbit to restore orbital volume, correct fossal pitting, and re-establish corneal apposition. One-year follow-up revealed no evidence of tumor recurrence or other major complications. Persistent minor enophthalmos and outer canthus malformation remained, though visual acuity remained stable and equivalent to preoperative levels. Repeat Hertel exophthalmometry showed a right eye measurement of 10.5 mm and a left eye measurement of 8 mm, indicating partial correction of proptosis. The anterior segment examination remained unremarkable, with no signs of inflammation or structural compromise. The case underscores the importance of surgical planning in orbital teratoma resection, particularly in pediatric patients, where orbital volume preservation and tissue apposition are critical to long-term ocular function and cosmetic outcomes.


A 78-year-old woman was feeling very tired, weak, dizzy, and confused for months. This made it hard for her to walk around her home. She was given a personalized medicine plan, and we checked her medicines to see which ones might be causing these symptoms. We found that her kidneys were not working as well as they should, which means her body can’t clear some medicines properly. We looked at how much her kidneys can filter waste (called eGFR), and it was only 30 — that’s a sign her kidneys are not working well. Because of this, we decided to lower the dose of two blood pressure medicines: losartan and manidipine. The doctor agreed and reduced them to safer levels. We also switched her pain medicine from pregabalin to gabapentin, which is safer for her kidneys. After two months, she felt better — no more tiredness, dizziness, or confusion. Her blood pressure also improved. We kept watching her to make sure everything stayed safe and working well.


A 78-year-old woman who was taking several medications reported feeling tired, weak, dizzy, and confused for months. These symptoms made it hard for her to leave her home or walk as she used to. She was seen at the pharmacy for a medication review, focusing on drugs that are processed by the kidneys, especially since her kidney function was found to be reduced (estimated glomerular filtration rate or eGFR of 30 ml/min/1.73 m²).

The review looked at her blood pressure and medication doses, particularly for her blood pressure medications: losartan and manidipine. Because her kidneys are not working as well, these medicines need to be lowered in dose to avoid low blood pressure, which can cause dizziness and confusion. The pharmacy team recommended reducing losartan to 50 mg daily and manidipine to 10 mg daily. They also switched her pregabalin to gabapentin, which is safer for her kidney function.

The changes were shared with her primary care doctor, who agreed to adjust the doses. After two months of following the new treatment, her blood pressure improved and the symptoms of tiredness, weakness, dizziness, and confusion went away. The doctor confirmed that the new gabapentin dose was safe and appropriate for her kidney function.


{
  "proficient_health_literacy": "A 78-year-old female patient, enrolled in a Personalised Medication Dosage System (PDS), presented with persistent symptoms of fatigue, weakness, dizziness, and confusion over several months, significantly impairing her ability to perform ambulatory activities. Upon clinical evaluation, she was referred to a personalised care area for a comprehensive medication review, with a focus on pharmacokinetic interactions relevant to renal function, particularly those affecting drugs metabolised or eliminated by the kidneys. The review centred on her estimated glomerular filtration rate (eGFR), calculated using the Chronic Kidney Disease-Epidemiology Collaboration (CKD-EPI) formula, which yielded a value of 30 ml/min/1.73 m², indicating stage 3 chronic kidney disease (CKD).\n\nThe patient’s pharmacological regimen included doxazosin (2 mg/24 h), losartan (100 mg/24 h), manidipine (20 mg/24 h), simvastatin (40 mg/24 h), acetylsalicylic acid (100 mg/24 h), omeprazole (20 mg/24 h), pregabalin (100 mg/12 h), torasemide (10 mg/24 h), dulaglutide (1.5 mg/week), insulin glargine (74 IU/24 h), insulin lispro (20 IU/24 h), and brimonidine (1 drop/12 h). Among these, losartan, manidipine, torasemide, and pregabalin were identified as requiring dose adjustment due to renal impairment, with antihypertensives being the primary focus given the patient’s symptoms of hypotension.\n\nBlood pressure measurements using an Omron Complete device revealed a systolic blood pressure (SBP) of 96 mmHg, diastolic blood pressure (DBP) of 52 mmHg, and heart rate (HR) of 69 beats per minute—values consistent with hypotension, particularly in the context of antihypertensive therapy. The decision to adjust medication doses was guided by product-specific labeling and consensus guidelines from the University of Barcelona Faculty of Pharmacy’s Practical Pharmacy Teaching and Research Group, which categorises drug risk based on eGFR thresholds across therapeutic classes using the ATC classification system. These guidelines define risk levels as low, moderate, or high depending on the extent of renal dysfunction and the drug’s elimination pathway.\n\nSpecifically, for eGFR values between 30–59 ml/min/1.73 m², the recommended dose reduction for losartan is 50–75% of the original dose, while for eGFR values between 15–30 ml/min/1.73 m², manidipine requires dose adjustment, typically reduced to a fraction of the standard dose (e.g., 10 mg/24 h). Torasemide, a loop diuretic, can contribute to volume depletion and hypotension, particularly in patients with reduced renal function, and thus its effect on blood pressure must be monitored. Pregabalin, used for neuropathic pain, has a moderate risk of accumulation in renal impairment and may require cautious titration, though its adjustment was deferred pending the efficacy of antihypertensive dose reduction.\n\nThe intervention protocol involved a formal report to the primary care physician (PCP), recommending a reduction of losartan to 50 mg/24 h and manidipine to 10 mg/24 h, in accordance with the eGFR-based dosing guidelines. Additionally, pregabalin was substituted with gabapentin (300 mg/12 h), a structurally related agent with a more favourable pharmacokinetic profile in renal impairment, as gabapentin is primarily eliminated by the kidneys but exhibits a lower risk of accumulation at eGFR levels between 30–60 ml/min/1.73 m², with a recommended total daily dose of 300–900 mg.\n\nThe PCP implemented the proposed changes. Follow-up assessments over a two-month period demonstrated a significant improvement in blood pressure control (as documented in Table 5) and a complete resolution of the patient’s symptoms of fatigue, weakness, dizziness, and confusion. The gabapentin dose of 300 mg/12 h was subsequently confirmed to be within the recommended range for her eGFR of 30 ml/min/1.73 m², supporting its safety and efficacy in this context. The case underscores the importance of routine eGFR-based medication review in elderly patients with polypharmacy, particularly when symptoms of hypotension or


This story is about a 9-year-old girl who has really smart brain skills but struggles with reading and writing because of dyslexia. Before help, she could only read simple letters and had trouble with sounds in words. She wrote in a messy way, mixing up letters and skipping parts. Her brain had trouble remembering sounds and seeing words quickly. After a few weeks of fun, weekly lessons focused on sounds and words, she got better. Now she reads faster and more clearly, and her writing is much more organized. She still has some challenges, like mixing up similar letters, but she’s making progress. The main thing that helped was working on how her brain handles sounds and words in a playful way, like playing games with letters and sounds.


{
  "proficient_health_literacy": "This case report presents a longitudinal, interdisciplinary evaluation and intervention study of a 9-year-old female child diagnosed with developmental dyslexia (DD) and high abilities/giftedness (AH/S), conducted within a public service framework under Research Ethics Committee (CEP) approval number 1.012.635, with informed consent obtained from both parents and the participant via Free and Informed Consent (TCLE and TALE). The participant, enrolled in the third year of elementary school, was initially assessed in 2018 at 8 years and 2 months of age, with a follow-up evaluation in 2019 at 9 years and 6 months, reflecting a 14-month interval due to institutional scheduling constraints and weekly appointment frequency, during which the child experienced intermittent school absences.\n\nThe child was born at term with typical neuropsychomotor and linguistic development. She was raised in a French-speaking environment until age 2, after which her home language shifted to Brazilian Portuguese due to parental background. Her first words were in French, and upon return to Brazil, she attended two private schools: initially, she failed to communicate in Portuguese, expressing exclusively in French; at age 3, she transitioned to a French-language school in Brazil. Over time, she exhibited persistent difficulties in reading and writing, leading to a repetition of the first year of elementary school at her mother’s request. At age 6, she enrolled in a bilingual Portuguese-English school. At age 8, she underwent a comprehensive neuropsychological and speech therapy evaluation, resulting in a diagnosis of developmental dyslexia with concomitant high cognitive abilities.\n\nThe study employed four assessment sessions—two pre-intervention (T1) and two post-intervention (T2)—each comprising a one-hour individualized evaluation of phonological processing, reading, and writing. The intervention consisted of 20 weekly 60-minute sessions of phonological remediation, administered in the second semester of 2018, with limited parental engagement due to work obligations. The remediation program was based on evidence-informed protocols for dyslexic populations and included targeted activities designed to strengthen phonological awareness, such as grapheme-phoneme correspondence, phoneme pair identification, syllable and word manipulation, phonemic addition/subtraction, rhyming, alliteration, and access to the mental lexicon. Activities were delivered in a metalinguistically oriented, play-based format, with reading training using the Mico Maneco children’s book collection, which progressively increases lexical complexity to track developmental gains. All sessions were documented in the clinical record.\n\nAssessment tools included the Consciência Fonológica Instrumento de Avaliação Sequencial (CONFIAS) for phonological awareness, which evaluates syllabic and phonemic awareness through segmentation, rhyme, alliteration, and transposition tasks. Scores are scored out of 70 (40 for syllabic, 30 for phonemic), with normative benchmarks derived from Ferreiro and Teberosky: syllabic-alphabetic writing hypothesis (syllabic = 27, phonemic = 12, total = 39); alphabetic writing hypothesis (syllabic = 31, phonemic = 15, total = 46). In T1, the child met the syllabic-alphabetic hypothesis (syllabic = 35, phonemic = 14); in T2, she met the alphabetic hypothesis (syllabic = 37, phonemic = 20), indicating significant improvement in phonemic processing, with a 6-point gain in phonemic awareness—consistent with targeted intervention.\n\nPhonological working memory was assessed using the Phonological Working Memory Test. The non-word repetition task (40 invented words) and digit reversal tasks were administered, with scoring based on correct repetitions across three attempts. Normative values for age 8 years (T1) were: pseudo-words = 69, direct digits = 13, reverse digits = 6. In T1, the child scored 66 (below expected) in pseudo-words and 4 (below expected) in reverse digits; in T2, scores improved to 69 (within normal range) and 12 (above expected), indicating gains in working memory capacity, particularly in executive functions related to rapid auditory storage and response retrieval.\n\nAutomatic Rapid Naming (RAN) and the updated Automatic Naming Test (TENA) were used to assess mental lexicon access. T1 used RAN with age-specific norms (8 years 0–11 months): digits = 28 s, letters = 29 s, objects = 52 s, colors = 46 s. T2 used TENA norms for 9 years 6 months: digits = 35 s, letters =


A 65-year-old woman had a lump found in the middle of her chest, behind her breastbone, during a check-up before knee surgery. The lump was about 6.5 cm long and 4.2 cm wide, had clear edges, and looked like fat and solid tissue. Doctors took a small sample and found it was made of mature fat and some blood cells, which are normal parts of the body. This kind of lump is not cancer and is harmless. So, they decided not to treat it with surgery and just watched it. She felt fine and went home without any problems.


A 65-year-old woman was found to have a tumor in the middle of her chest, specifically in the posterior mediastinum, during a routine check-up before knee surgery. The tumor was about 6.5 × 4.2 cm, well-defined, and had both fat and solid parts. It did not spread to nearby tissues or bones. A biopsy was done using image guidance, and the results showed that the tumor was made up of mature fat tissue with some blood cells and early blood cell precursors, which is a sign of a benign (non-cancerous) condition called primary mediastinal myelolipoma. Because the tumor was not dangerous and did not grow, the doctors chose not to treat it surgically. The patient recovered well and was discharged without any complications.


A 65-year-old woman with no significant personal or familial medical history presented in August 2022 with a posterior mediastinal tumor identified during preoperative imaging for knee surgery. She was referred for evaluation and management. Physical examination at admission was unremarkable, and all laboratory studies remained within normal limits. A chest computed tomography (CT) scan revealed a well-defined, ovoid lesion measuring 6.5 × 4.2 cm in the posterior right mediastinum, exhibiting mixed fat and solid density, with no signs of bone erosion, soft tissue infiltration, or vascular invasion. The tumor was localized and demonstrated clear margins, consistent with a benign lesion. A trans-thoracic biopsy was performed using a 18G × 250 mm semiautomatic cutting needle under image guidance via a posterior approach, ensuring precise targeting and minimal trauma. Histopathological analysis confirmed a benign neoplasm composed of mature adipose tissue intermixed with areas of hemorrhage and hematopoietic elements. The hematopoietic components included primarily precursors of the erythroid lineage (red cell series), as well as myeloid precursors at various stages of maturation, including megakaryocytes, which are bone marrow-derived cells responsible for platelet production. This pattern of mature adipose tissue with active, albeit non-malignant, hematopoiesis is characteristic of primary mediastinal myelolipoma (PMML), a rare benign tumor of the mediastinum. The presence of both adipose and hematopoietic elements, particularly in a well-differentiated and non-invasive context, supports the diagnosis of primary mediastinal myelolipoma (MPM) as defined by the World Health Organization (WHO) classification of soft tissue tumors. Given the benign nature of the lesion, lack of local invasion, and absence of systemic features such as hypercellular marrow or metastatic spread, conservative management was adopted. The patient showed no signs of progression or complications and was discharged without adverse events. This case underscores the importance of imaging and biopsy in differentiating benign mediastinal masses from malignant neoplasms, particularly when hematopoietic elements are present within adipose tissue, as such findings may mimic hematologic malignancies but are instead indicative of a distinct, well-characterized benign entity.


A 52-year-old man got sick with both a bad fever and a COVID-19 infection. He worked outside in very hot weather, which made his body overheat and go into a dangerous coma. His temperature reached 40°C, and he stopped breathing on his own. Doctors found he had a lung infection, damaged liver and kidneys, and a serious blood clotting problem. Even after giving him antibiotics, fluids, and help to protect his organs, he got worse. Days later, he started having trouble breathing and a brain bleed. He had a severe mix of infections and blood problems that hurt many parts of his body. This led to a life-threatening condition called multi-organ failure, and he passed away.


{
  "proficient_health_literacy": "A 52-year-old male presented with a community-acquired SARS-CoV-2 infection confirmed by reverse-transcription polymerase chain reaction (RT-PCR) of a nasopharyngeal swab, coinciding with the onset of heatstroke (HS). Initial exposure to SARS-CoV-2 occurred during a cold-like illness, followed by return to work without fever after two days of rest. While working outdoors in an ambient temperature of 35°C for five hours, he lost consciousness, with a core temperature (Tc) measured at 40°C upon emergency department admission. The clinical presentation—persistent coma, hyperpyrexia, dyspnea, and gastrointestinal hemorrhage—was consistent with a diagnosis of heatstroke, supported by the absence of underlying comorbidities or familial disease history. The Glasgow Coma Scale (GCS) score was 3/15 (1 for eye-opening, verbal, and motor responses), with symmetrical, non-reactive pupils. Vital signs included a heart rate of 106 bpm and maintained blood pressure (126/77 mmHg) via continuous norepinephrine infusion (0.4 µg/kg·min).\n\nLaboratory findings revealed a severe systemic inflammatory response: white blood cell count (WBC) decreased from 3.55×10⁹/L to 3.13×10⁹/L, with a marked reduction in lymphocytes (from 0.25×10⁹/L to 0.1×10⁹/L) and a rise in neutrophil percentage (N%) to 85.3%. Procalcitonin was elevated to 2.81 ng/mL, indicating bacterial infection, and C-reactive protein (CRP) reached 32.6 mg/L. Sputum culture identified Stenotrophomonas maltophilia and Candida lipolytica; central venous catheter culture revealed Staphylococcus epidermidis, while blood cultures remained negative. CT imaging demonstrated bilateral frontal subdural effusions, bilateral pleural effusions, lower lobe consolidation and atelectasis, right upper lobe inflammation, and a small amount of abdominal fluid, indicating a multi-organ pulmonary infection.\n\nThe patient was admitted to the emergency intensive care unit (ICU) and initiated with intravenous rehydration using lactated Ringer’s solution and normal saline at 2.5 mL/kg·h, mechanical ventilation (synchronized intermittent mandatory ventilation with PEEP of 5 mmH₂O and FiO₂ of 80%), vasoactive support, and continuous renal replacement therapy (CRRT) for anuria. Initial antibiotics were Piperacillin Sodium and Tazobactam Sodium, later switched to Meropenem due to S. maltophilia and methicillin-resistant Staphylococcus aureus (MRSA) isolation from sputum. Thymalfasin was administered for 20 days to modulate immune function. Hepatic and renal dysfunction were managed with polyene phosphatidylcholine, adenosylmethionine budisulfonate, ulinastatin, and hemofiltration. Intracranial pressure was managed with mannitol for three days. Coagulopathy was characterized by thrombocytopenia, anemia, and disseminated intravascular coagulation (DIC), with treatment including plasma and cryoprecipitate transfusions, continuous heparin infusion (6000 U/day), and CRRT with sodium citrate anticoagulation (8 g/day) initiated on day 7. Platelet transfusion was administered after day 9.\n\nThe patient regained consciousness on day 13 with a GCS of 14/15 and moderate fever, with no active gastrointestinal bleeding. Mechanical ventilation was discontinued and the tracheal tube removed. However, discontinuation of CRRT on day 12 led to a rise in serum creatinine, indicating worsening renal function. On day 17, he developed acute respiratory distress with oxygen saturation <85% and a fever (Tc: 39.3°C), requiring reintubation. Bronchoscopy showed reduced sputum volume in both lungs and subbranches. A recurrence of coma (GCS 3/15) occurred, with WBC increasing to 14.94×10⁹/L and neutrophils to 13.77×10⁹/L. Serum total bilirubin rose to 235.2 µmol/L and creatinine to 441 µmol/L. Brain CT revealed an ischemic stroke in the right frontal lobe and a hemorrhagic infarction in the right occipital lobe. Cooling therapy via CRRT with ice-cold replacement fluid was


{
  "proficient_health_literacy": "A 19-year-old female presented to the emergency department with a two-day history of headache, recurrent nausea, vomiting, and one-day fever. On admission, she exhibited a high fever of 39.1°C, severe hypertension (189/120 mmHg), and tachycardia (148 beats per minute). Laboratory findings included a white blood cell count of 14.77×10^9/L and a neutrophil count of 13.55×10^9/L, consistent with an acute inflammatory or infectious process. Empirical antibiotic therapy with moxifloxacin was initiated, but symptoms persisted, prompting admission to the intensive care unit for continuous monitoring. A year prior, she had been diagnosed with myocarditis at a local hospital, along with hypertension, for which antihypertensive medications were prescribed; however, she discontinued adherence to therapy and did not perform regular blood pressure monitoring. Notably, her father had a history of sudden, unexplained death, raising concerns for a genetic predisposition to endocrine neoplasia.\n\nA chest CT scan incidentally revealed a left adrenal mass measuring 43 mm × 36 mm with soft tissue density. No abnormalities were detected in head or chest imaging. Electrocardiography demonstrated sinus tachycardia with a shortened PR interval and tall, peaked P-waves in leads II, III, and aVF, suggestive of right atrial strain. Transthoracic echocardiography showed no structural cardiac abnormalities.\n\nOn day two of admission, biomarkers including brain natriuretic peptide (BNP) and troponin I (TnI) increased, supporting a provisional diagnosis of myocarditis of uncertain etiology. Treatment included methylprednisolone (0.25 g/day) to suppress myocardial inflammation, furosemide (20 mg q12h) and spironolactone (20 mg q12h) for volume control, and perindopril amlodipine (10 mg: 5 mg/day) for blood pressure and afterload reduction. Metoprolol tartrate (25 mg q12h) and esmolol (0.2 g/hour IV) were used to manage tachycardia and reduce myocardial oxygen demand.\n\nGiven the presence of an adrenal mass and sustained hypertension, endocrine evaluation was performed, including assessment of the aldosterone-to-renin ratio, plasma cortisol, plasma catecholamines, and 24-hour urinary catecholamines and metabolites. In the recumbent position, plasma catecholamines were markedly elevated: dopamine (524.5 pmol/L), norepinephrine (83,975 pmol/L), and epinephrine (10,579.3 pmol/L). Urinary levels included free adrenaline (4,368.89 nmol/24h), free norepinephrine (>12,697.60 nmol/24h), normetanephrine (8,312 nmol/24h), metanephrines (4,078 nmol/24h), and vanillylmandelic acid (58.1 mg/24h). These findings are consistent with a diagnosis of pheochromocytoma. On day five, glucocorticoid therapy was discontinued, and terazosin was introduced to provide more precise control of blood pressure.\n\nAn enhanced abdominal CT confirmed the left adrenal mass, strongly indicating pheochromocytoma. Whole-exome sequencing revealed a heterozygous missense mutation in the RET gene (c.1900T > C: p. Cys634Arg), resulting in substitution of cysteine by arginine at codon 634. This mutation is pathogenic and associated with multiple endocrine neoplasia type 2A (MEN2A), prompting further endocrine workup. Thyroid ultrasound identified a hypoechoic nodule measuring 6 mm × 4 mm in the left lobe, with mildly elevated calcitonin levels. Parathyroid function tests showed normal serum calcium, intact parathyroid hormone (PTH), and normal electrolytes.\n\nFollowing clinical stabilization, plasma cortisol and ACTH normalized. The patient underwent surgical resection of the left adrenal tumor (50 mm × 40 mm × 30 mm). Immunohistochemical analysis demonstrated positive staining for vimentin (Vim), CD56, synaptophysin (Syn), chromogranin A (CgA), and neuron-specific enolase (NSE), with S-100 positivity in Sertoli cells. St


A 36-year-old man had a painful lump on the inside of his penis and scrotum for 5 years. The lump wasn’t hurting his bladder or causing weight loss. Doctors saw it and found it was deep, about 20 mm big, and attached near the urethra. Tests showed it had a lot of blood flow and was connected to the tube that carries sperm. It looked like a type of cancer called synovial sarcoma, which is a rare, fast-growing tumor. The first surgery removed the lump, and the test results showed it had signs of this cancer. The patient had another surgery with wider cuts to make sure all the cancer was taken out. Even after this, the cancer came back and spread to his liver and spine. He tried several chemo treatments, but they didn’t work. He had more surgeries on his liver, then got treatment for a lung tumor. After trying many medicines, the cancer kept growing, so he moved to palliative care and stopped treatment.


A 36-year-old man had a tender lump in his penis and scrotum for 5 years. He had no pain with urination, weight loss, or fever. The lump was about 20 mm in size, attached near the base of the penis, and was mobile but deep. Imaging showed a well-defined mass with lots of blood flow, and it was connected to the vas deferens, but no swollen lymph nodes were found. Blood tests were normal. Because of the pain and findings, surgery was done to remove the mass for both diagnosis and treatment. The first surgery removed the mass completely, and the tissue was tested. Pathology showed a type of cancer called synovial sarcoma, which has specific markers including TLE-1, CD99, BLC2, cytokeratin, and EMA. A genetic test confirmed a known mutation in synovial sarcoma. The edges of the sample were hard to assess because the tissue was fragmented. After two weeks, the patient agreed to a second surgery with wider margins. The second surgery removed more tissue, including from both sides of the scrotum, and the result was clear of cancer. The patient was then placed on active surveillance. After 16 months, metastatic cancer was found in his liver and spine. Chemotherapy with Ifosfamide and Doxorubicin did not work, so surgery was done to remove part of the liver and gallbladder. Later, a lung lesion appeared, and he received Pazopanib and radiation. After 6 months of monitoring, new liver and lung tumors developed. He tried several chemotherapy regimens, including Gemcitabine and Docetaxel, Dacarbazine, and Pembrolizumab, but all failed. The patient was eventually moved to palliative care and stopped seeing his doctors.


A 36-year-old male with no significant past medical history presented with a 5-year history of a left-sided penoscrotal mass. The lesion was described as smooth, tender, cystic, measuring approximately 20 mm × 20 mm, attached to the left side of the bulbar urethra at the penoscrotal junction, deep in location, without skin tethering or association with the left spermatic cord, and partially mobile. Doppler ultrasonography revealed a well-defined hypoechoic mass (2.7 × 3.1 × 2.0 cm) with markedly increased vascularity in the left penoscrotal region. Pelvic magnetic resonance imaging (MRI) demonstrated a mass in the left inferolateral base of the penis with a distinct fat plane, isointense to testicular tissue on T2-weighted, T1-weighted, and diffusion-weighted imaging, and with direct connection to the vas deferens; no regional lymphadenopathy was observed. Serum alpha-fetoprotein and beta-human chorionic gonadotropin levels were within normal limits, ruling out hepatoblastoma or germ cell tumor etiologies. Given the chronic pain and imaging findings, surgical resection was performed for both diagnostic and therapeutic purposes. Intraoperatively, a spindle cell tumor was identified in the left posterolateral scrotum and completely resected. Histopathological examination revealed a cellular spindle cell tumor organized in interlacing fascicles, with spindle to oval-shaped nuclei exhibiting evenly dispersed chromatin and inconspicuous nucleoli. Mitotic activity was high, reaching up to 3 mitoses per high-power field (HPF), indicating aggressive proliferative potential. Immunohistochemical staining was positive for TLE-1, CD99, B-cell lymphoma 2 (BCL-2), focal cytokeratin, and focal epithelial membrane antigen (EMA), consistent with synovial sarcoma. Fluorescence in situ hybridization (FISH) analysis confirmed a characteristic rearrangement of the SS18 gene at 18q11.2, a hallmark genetic alteration in synovial sarcoma. Histological assessment of the margins was inconclusive due to fragmentation of the resected specimen, limiting definitive margin status. Following initial resection, the patient returned to clinic for re-evaluation. Based on the histopathology, a second surgical resection with wider margins was performed three weeks later. The resection extended bilaterally to the spermatic cords, deepening to the corpus spongiosum and being shaved superiorly to the urethra. The final resected specimen measured 6.0 × 6.0 × 3.0 cm and was histologically negative for residual tumor. The patient entered active surveillance for 16 months, during which time metastatic disease was detected in the sixth liver segment and the L1 vertebral body. The oncology team initiated a six-cycle regimen of ifosfamide and doxorubicin, which showed no clinical or radiographic response. Subsequent surgical intervention included resection of the fifth and sixth liver segments with concomitant cholecystectomy. Following this, a new pulmonary lesion emerged, prompting initiation of pazopanib and stereotactic body radiation therapy (SBRT). After six months of surveillance, new liver and pulmonary lesions developed, leading to a regimen of gemcitabine and docetaxel for three cycles, which resulted in disease progression. The patient then received two cycles of dacarbazine, with further progression. Subsequently, two cycles of pembrolizumab were administered, also resulting in disease progression. The patient was transitioned to palliative care and discontinued follow-up. This case illustrates the aggressive biological behavior of synovial sarcoma in a young adult, despite multimodal therapy including surgical resection, chemotherapy, and targeted therapy, with eventual progression and widespread metastasis, highlighting the challenges in managing this rare, high-grade sarcoma with a propensity for early dissemination and resistance to conventional treatment regimens. The molecular profile—specifically the SS18-SSX1 fusion gene—supports the diagnosis of synovial sarcoma and correlates with its clinical aggressiveness and poor response to standard chemotherapy.


A 13-year-old boy came to the ER with sudden chest pain on the sides, worse when coughing, but no shortness of breath. He had a mild cough and a little runny nose, and once felt a fever. The pain didn’t get worse at night, and he was still able to do sports like canoeing. No one in his family had lung or heart problems, and he didn’t have any exposure to dust, fumes, or oil. His chest X-ray from 4 years ago showed a similar lung problem, which was treated with an antibiotic (azithromycin) and has stayed gone since. This time, his X-ray showed a thick, cloudy pattern in his lungs, and a CT scan found a lot of white spots in both lungs — more than two-thirds of his lung tissue — which points to a rare lung condition called pulmonary alveolar proteinosis (PAP). Tests for viruses, including the coronavirus, came back negative. A lung fluid test showed a milky fluid and a special stain that confirmed the condition. His breathing tests showed a mild restriction, meaning he can’t take in as much air as normal, and his lungs are less able to pass oxygen. No gene mutations linked to lung problems were found. A blood test showed he has an antibody against a protein called GM-CSF, which makes doctors think it’s an autoimmune version of PAP. After 20 months, he’s feeling fine, no pain, and his breathing is back to normal. He’s still active and doesn’t need treatment right now — just regular check-ups.


A 13-year-old male with no significant prior medical history presented to the emergency department with a 3-day history of acute bilateral pleuritic chest pain, associated with mild non-productive cough, mild rhinorrhea, and a single febrile episode (38°C). The chest pain was localized to the costal margin and exacerbated by coughing, without diurnal variation or respiratory distress. Symptoms were partially relieved with paracetamol. There were no reports of joint pain, weight loss, anorexia, fatigue, syncope, or exercise limitation; he maintained regular physical activity, including weekly canoeing. No exposure to infectious agents, environmental fumes, dust, or mineral oils was reported. There was no family history of cardiopulmonary disorders. A prior chest radiograph, obtained four years earlier during an acute illness, demonstrated a marked interstitial infiltrate, which was presumptively managed with azithromycin and has since remained asymptomatic with no further clinical follow-up.

On admission, vital signs were stable: temperature 37.8°C, oxygen saturation 99% on room air, heart rate 93 bpm, respiratory rate 15 breaths per minute, and blood pressure at the 85th percentile (115/66 mmHg). Physical examination revealed diminished breath sounds in the lower two-thirds of the chest without adventitious sounds, respiratory distress, cyanosis, clubbing, or abnormal cardiac findings. Chest radiography showed a persistent interstitial infiltrate, morphologically similar to the prior imaging. Thoracic computed tomography (CT) revealed multiple bilateral ground-glass opacities involving greater than 65% of lung parenchyma, with areas of 'crazy paving' pattern, consistent with pulmonary alveolar proteinosis (PAP).

Respiratory viral testing, including for SARS-CoV-2, was negative. The patient was initially managed with empiric antibiotics (amoxicillin-clavulanic acid and azithromycin) for suspected respiratory infection, with clinical improvement and discharge. Subsequent outpatient evaluation revealed positive antinuclear antibodies (ANA) at a titer of 1/89 with a fine speckled pattern, while other autoantibodies and immunoglobulin levels were within normal ranges.

Bronchoalveolar lavage (BAL) yielded a milky fluid with positive periodic acid-Schiff (PAS) staining, indicating the presence of surfactant proteins and alveolar protein accumulation. Microbiological analysis, including for mycobacteria, was negative. Spirometry demonstrated a mild restrictive pattern: forced vital capacity (FVC) of 2.92 L (77%), forced expiratory volume in 1 second (FEV1) of 3.21 L (69.9%), and a normal FEV1/FVC ratio of 109%, suggesting preserved airway function despite reduced lung volumes. Diffusing capacity of the lungs for carbon monoxide (DLCO, single breath) was reduced to 13.8 ml/min/mmHg (48.6%), indicating impaired gas exchange.

Genetic testing for surfactant dysfunction-related mutations was negative, ruling out inherited surfactant deficiencies such as those seen in surfactant protein C (SFTPC) or surfactant protein B (SFTPB) mutations. Anti-granulocyte macrophage colony-stimulating factor (GM-CSF) antibody testing was strongly positive, supporting a diagnosis of autoimmune pulmonary alveolar proteinosis (AI-PAP), in which the immune system produces autoantibodies that inhibit GM-CSF, a critical cytokine for alveolar macrophage function and surfactant clearance.

At 20-month follow-up, the patient remains asymptomatic and continues regular physical activity. Repeat spirometry shows normalized FVC (4.03 L, 81.3%), FEV1 (3.71 L, 87.5%), FEV1/FVC ratio (91.96%), and DLCO (25.54 ml/min/mmHg, 83.7%), indicating functional stabilization. Given the absence of symptoms and stable pulmonary function, treatment was deferred, and the patient is being managed with ongoing clinical monitoring. The case highlights the clinical presentation of AI-PAP in a young adolescent with a recurrent interstitial infiltrate, overlapping with prior imaging findings, and underscores the importance of BAL findings, autoantibody screening, and GM-CSF inhibition in the diagnostic workup of unexplained interstitial lung disease in pediatric patients.


A 27-year-old woman had swelling on her face and trouble opening her mouth 48 hours after taking antibiotics for a tooth infection. A scan of her neck found a big blood clot in a vein, and a chest scan showed blood clots in her lungs. She was treated right away with strong antibiotics and medicine to stop the clots from getting worse. She got better and was able to go home after 14 days of treatment.


A 27-year-old woman developed facial swelling and difficulty opening her mouth (trismus) 48 hours after finishing antibiotics for a throat infection. She had previously taken phenoxymethylpenicillin for five days to treat a peritonsillar abscess. Imaging showed a large blood clot in the internal jugular vein of her neck and lung infections caused by septic emboli (clots that traveled to the lungs). She was treated with strong intravenous antibiotics and anticoagulation to prevent further clots. Her condition improved over several days, and after 14 days of treatment, she was able to go home on oral antibiotics and continued anticoagulation therapy.