| [ | |
| { | |
| "Index": "NEJMcpc1408595", | |
| "patient_info": "Chief Complaint: The patient, a 14-year-old boy, presented with abnormal liver-function test results persisting for approximately 1.5 years. He had a history of multiple chronic illnesses, including type 1 diabetes mellitus, primary hypothyroidism, and recurrent infections. The abnormal liver tests prompted referral to the gastroenterology clinic for further evaluation.\nPatient Information and Medical History: The patient is a 14-year-and-8-month-old male of Italian and Irish ancestry with a significant past medical history. He was born via vaginal delivery following an uncomplicated full-term gestation. At birth, he was noted to have cryptorchidism (undescended testis), which was later addressed with orchidopexy and inguinal herniorrhaphy at 15 months of age. During infancy, he was diagnosed with gastroesophageal reflux disease (GERD) and failure to thrive. His medical conditions include type 1 diabetes mellitus, primary hypothyroidism, mild speech delay, and learning disabilities. He has a history of recurrent infections, including sinusitis, streptococcal pharyngitis, and pneumonias, as well as nocturia and leukoplakia of the tongue. Genetic evaluation at 2 years of age demonstrated a normal karyotype. Additionally, he has sustained orthopedic injuries secondary to sports-related trauma. His family medical history is notable for a maternal uncle with learning disabilities, developmental delay, hypogammaglobulinemia, cryptogenic cirrhosis, splenic artery aneurysms, type 1 diabetes mellitus, and bone marrow failure; a maternal great-grandmother with scleroderma; and a paternal grandmother with type 1 diabetes mellitus. Current medications include insulin administered via continuous subcutaneous insulin infusion (insulin pump) and levothyroxine. The patient has no known medication allergies.", | |
| "laboratory_tests": "Laboratory testing revealed several abnormal indicators, including a hematocrit of 30.9% (reference range: 36.0–49.0), hemoglobin of 10.5 g/dL (reference range: 12.0–16.9), and a platelet count of 140,000/mm³ (reference range: 150,000–450,000), consistent with anemia and thrombocytopenia. Liver function tests were notable for elevated total bilirubin at 3.6 mg/dL (reference range: 0.2–1.1), alkaline phosphatase at 402 U/L (reference range: 70–390), aspartate aminotransferase at 80 U/L (reference range: 2–40), alanine aminotransferase at 47 U/L (reference range: 3–30), and γ-glutamyltransferase at 75 U/L (reference range: 12–55), indicating hepatic dysfunction. Immunological studies demonstrated low IgM levels at 25 mg/dL (reference range: 55–334) and suboptimal pneumococcal antibody titers post-vaccination, suggesting impaired humoral immunity. In contrast, normal or negative results were observed for complete blood count, erythrocyte sedimentation rate, vitamin B₁₂ levels, C-reactive protein, antinuclear antibody titers, monospot test, Lyme disease testing, and DNA analysis for CADASIL. Additionally, prothrombin-time international normalized ratio, lipid profile, red-cell osmotic fragility, ceruloplasmin, iron studies, iron-binding capacity, IgG levels, and glucose-6-phosphate dehydrogenase (G6PD) levels were within normal limits.", | |
| "imaging_studies": "Imaging studies reveal significant findings in both neurological and abdominal evaluations. A brain MRI performed at 10 years of age demonstrated numerous nonspecific focal lesions in the periventricular and corona radiata white matter, each measuring ≤8 mm in diameter, without gadolinium enhancement. These findings are suggestive of potential etiologies such as myelination disorders, vasculitis, or infections like Lyme disease. Abdominal imaging conducted at 14 years of age included an ultrasound, which revealed heterogeneously hypoechoic parenchymal nodules in the liver, consistent with macronodular cirrhosis, without a dominant mass. The portal vein was patent with normal flow, and splenomegaly was noted in the absence of varices. Subsequent abdominal MRI confirmed heterogeneous hepatic parenchymal enhancement and splenomegaly, with no evidence of bile-duct dilatation or ascites. ", | |
| "diagnosis": "Dyskeratosis congenita (a telomere syndrome)\nNodular regenerative hyperplasia of the liver" | |
| }, | |
| { | |
| "Index": "NEJMcpc1410939", | |
| "patient_info": "Chief Complaint: A 25-year-old man presented with sudden onset of severe abdominal pain, syncope, and hypotension. The abdominal pain began in the epigastrium and right upper quadrant, radiating throughout the abdomen, and was accompanied by tingling in the mouth, tongue, arms, and legs. Within minutes, he experienced blurred vision, fainting, nonbloody vomiting, and loss of consciousness. Symptoms occurred during strenuous physical activity (lifting heavy boxes).\nPatient Information and Medical History: The patient is a 25-year-old man born in Romania, living in the United States for six years. He has a history of appendectomy and no known allergies or medications. He does not smoke, drink alcohol, or use illicit drugs. He has a family history of cardiovascular disease (father died of myocardial infarction at age 59). He has traveled to Romania annually, where he was exposed to stray dogs, and has also traveled to India and China. He occasionally experiences pruritus when showering.", | |
| "laboratory_tests": "Initial laboratory tests showed normal platelet count, alkaline phosphatase, alanine aminotransferase, albumin, globulin, troponin T, lipase, D-dimer, and renal function. Significant changes included transient lactic acidosis, increased serum bilirubin, and alanine aminotransferase levels, consistent with shock liver. Lymphopenia and eosinopenia were noted, likely due to glucocorticoid therapy. Serologic testing confirmed the presence of echinococcal antibodies.", | |
| "imaging_studies": "Abdominal ultrasound revealed a hypoechoic abnormality with internal echoes in the liver. CT scan of the abdomen and pelvis showed a hypodense lesion measuring 6.5 cm in segment 6 of the liver, with a thin, undulating internal septation and bulging of the liver capsule. MRI of the liver confirmed a hyperintense cyst on T2-weighted images with undulating internal septation and a small amount of fluid around the cyst, suggesting rupture or leakage. Chest radiograph and CT scans of the brain and chest were normal.", | |
| "diagnosis": "Acute anaphylaxis\nHepatic hydatid cyst\nEchinococcus granulosus infection" | |
| }, | |
| { | |
| "Index": "NEJMcpc1610099", | |
| "patient_info": "Chief Complaint: A 50-year-old man presented with fatigue, malaise, multiple episodes of nonbloody, nonbilious vomiting, abdominal distention, diffuse abdominal pain, and jaundice. Symptoms developed over 6 days, with jaundice noted 3 days before admission. He also reported occasional dark stools and mild, diffuse abdominal pain exacerbated by deep breaths.\nPatient Information and Medical History: The patient is a 50-year-old male horticulturalist from rural northern India with cattle on his property. He had hyperlipidemia and previously took an unknown cholesterol-lowering medication for 2 months. He had a history of binge drinking (8–10 drinks several days per month) but last consumed alcohol 6 months prior. Two weeks before admission, he traveled to New England. His father died of unspecified liver disease in his sixth decade. He took an unknown nonprescription pain medication and one dose of ciprofloxacin provided by a family member before admission.", | |
| "laboratory_tests": "Hematological findings included a markedly decreased hematocrit (21% on admission, reference range: 41–53%) and hemoglobin (7.3 g/dl on admission, reference range: 13.5–17.5 g/dl), consistent with severe anemia. The white-cell count was elevated at 26,000 per mm³ (reference range: 4500–11,000 per mm³), suggesting leukocytosis, while the platelet count was within normal limits at 231,000 per mm³ (reference range: 150,000–400,000 per mm³). Coagulation studies showed a prolonged prothrombin time of 22 seconds (reference range: 11–14 seconds), and D-dimer was significantly elevated at 2531 ng/ml (reference range: <500 ng/ml), indicating possible thromboembolic activity or fibrinolysis. Haptoglobin levels were decreased to <6 mg/dl (reference range: 16–199 mg/dl), consistent with hemolysis. Biochemical abnormalities included elevated total bilirubin (4.3 mg/dl, reference range: 0–1.0 mg/dl) and direct bilirubin (4.6 mg/dl), along with increased alanine aminotransferase (ALT, 116 U/liter, reference range: 10–55 U/liter) and aspartate aminotransferase (AST, 105 U/liter, reference range: 10–40 U/liter), indicating hepatic injury. Lactate dehydrogenase (LDH) was elevated at 38 U/liter (reference range: 110–210 U/liter), further supporting hemolysis or tissue damage. Renal function was impaired, with elevated creatinine (1.7 mg/dl, reference range: 0.6–1.5 mg/dl) and urea nitrogen (66 mg/dl, reference range: 8–25 mg/dl). Ferritin levels were notably elevated at 0.74 µg/liter (reference range: 20–300 µg/liter), suggesting iron overload or acute-phase response.", | |
| "imaging_studies": "Abdominal ultrasound revealed a patent portal vein, coarse and heterogeneous liver echotexture, a contracted gallbladder with thickened wall and biliary sludge, and echogenic renal parenchyma. Magnetic resonance imaging (MRI) showed diffuse hepatic steatosis, gallbladder-wall edema, and fluid and fat stranding around the duodenum. The portal vein was not well visualized.", | |
| "diagnosis": "Acute HEV infection" | |
| }, | |
| { | |
| "Index": "NEJMcpc1613467", | |
| "patient_info": "Chief Complaint: The patient, an 18-year-old woman, presented to the emergency department with acute liver failure 11 weeks after the birth of her first child. Her symptoms began one week prior with rhinorrhea, sore throat, and cough, which progressed to abdominal discomfort, nausea, vomiting, diarrhea, vaginal bleeding, and jaundice. On the day of presentation, she experienced syncope, resulting in a chin laceration. She also reported tea-colored urine and easy gum bleeding.\nPatient Information and Medical History: The patient is an 18-year-old woman of Southeast Asian descent, born in the United States. She recently moved to an urban area of New England and lives with her daughter, boyfriend, and his parents. She has a history of mild asthma and an uncomplicated pregnancy until preterm labor at 32 weeks, complicated by placental abruption. She was hospitalized for one week postpartum due to unspecified abnormal lab results. She denies smoking, alcohol use, or illicit drug use. Her grandmother had unspecified liver disease. Medications include albuterol as needed, azithromycin, and promethazine-dextromethorphan syrup. She has no known allergies and is up-to-date on immunizations.", | |
| "laboratory_tests": "Hematologic findings included persistently low hematocrit (19.6% at another hospital, 23.4% at this hospital) and hemoglobin (6.4 g/dl at another hospital, 7.9 g/dl at this hospital), consistent with severe anemia. The mean corpuscular volume was elevated (113.8 fl at another hospital, 105.9 fl at this hospital), suggesting macrocytic anemia. Platelet counts were reduced (140,000 per mm³ at another hospital, 175,000 per mm³ at this hospital), while white-cell counts remained within normal limits (10.1 per mm³ at another hospital, 11.1 per mm³ at this hospital). Coagulation studies revealed a prolonged prothrombin time (24.5 sec at this hospital), elevated INR (2.6 at another hospital, 2.1 at this hospital), and prolonged activated partial-thromboplastin time (43.4 sec at this hospital), alongside a mildly elevated D-dimer (591 ng/ml at this hospital), indicating potential coagulopathy. Liver function tests showed markedly elevated total bilirubin (19.7 mg/dl at another hospital, 26.3 mg/dl at this hospital) and direct bilirubin (21.9 mg/dl at this hospital), with elevated aspartate aminotransferase (152 U/liter at both hospitals) and γ-glutamyltransferase (116 U/liter at this hospital), suggesting significant hepatic dysfunction. Other abnormalities included hypocalcemia (7.2 mg/dl at both hospitals), hypophosphatemia (1.8 mg/dl at this hospital), hypoalbuminemia (2.1 g/dl at another hospital, 2.2 g/dl at this hospital), and elevated lactic acid (3.9 mmol/liter at another hospital, 1.7 mmol/liter at this hospital) and ammonia levels (49 μmol/liter at this hospital).", | |
| "imaging_studies": "Chest radiograph and CT scan of the head were normal. Abdominal ultrasonography revealed mildly increased hepatic parenchymal echogenicity, suggestive of hepatic steatosis or diffuse parenchymal disease. The gallbladder was distended with wall edema, pericholecystic fluid, and layering sludge. The common bile duct was normal in diameter, with no intrahepatic biliary ductal dilatation. The spleen was mildly enlarged (13 cm). Doppler ultrasonography confirmed normal hepatic arterial, portal venous, and hepatic venous flow.", | |
| "diagnosis": "Fulminant hepatic failure\nWilson's disease" | |
| }, | |
| { | |
| "Index": "NEJMcpc1616393", | |
| "patient_info": "Chief Complaint: An 8-month-old girl presented with fever and an abdominal mass. Symptoms began approximately 6 days prior to admission, including passing a large stool surrounded by clotted blood, intermittent fevers, irritability, decreased oral intake, and a mild cough. The fever peaked at 40.3°C the day before admission.\nPatient Information and Medical History: The patient is an 8-month-old girl born after an uncomplicated 41-week gestation. She had a previous emergency department visit at 6.25 months for vomiting and abdominal pain, but no fever or bleeding. Her immunizations are up-to-date, and she takes no medications. Family history includes a maternal grandfather with colon cancer and a paternal aunt who died at 20 years old from cancer initially presenting as an abdominal cyst. There is no family history of inflammatory bowel disease.", | |
| "laboratory_tests": "Abnormal laboratory results included: Hematocrit (29.1%), Hemoglobin (9.2 g/dl), Platelet count (490,000 per mm³), Carbon dioxide (20 mmol/liter), Urea nitrogen (3 mg/dl), Creatinine (0.23 mg/dl), Magnesium (2.6 mg/dl), Lipase (797 U/liter), and C-reactive protein (134.4 mg/liter). Other tests, including glucose, calcium, phosphorus, total protein, albumin, globulin, lactate dehydrogenase, uric acid, amylase, alpha fetoprotein, and human chorionic gonadotropin, were normal.", | |
| "imaging_studies": "Abdominal radiography revealed the absence of bowel gas in the midabdomen and peripheral displacement of bowel loops, suggestive of an abdominal mass. Abdominal ultrasonography showed a large, thick-walled complex cystic mass in the midabdomen with internal dependent debris and multiple mural satellite cysts. CT imaging confirmed a 14.5 cm complex cystic mass in the midabdomen, separate from the bowel, with loculations abutting the pancreas. Contrast material injected into the cyst cavity showed communication with the pancreatic duct and ampulla.", | |
| "diagnosis": "Congenital pancreatic hamartoma (multicystic adenomatoid hamartoma)" | |
| }, | |
| { | |
| "Index": "NEJMcpc1706100", | |
| "patient_info": "Chief Complaint: The patient, a 65-year-old woman, presented with acute liver failure and was transferred for evaluation for liver transplantation. Her primary complaints included malaise, fatigue, jaundice, and delirium. She also reported nonbloody diarrhea and a single episode of coughing up blood-tinged sputum. The symptoms had developed over approximately 7 weeks, with a significant deterioration in the week before admission, including fever, shock, and acute kidney injury.\nPatient Information and Medical History: The patient is a 65-year-old woman with a history of presumed autoimmune hepatitis and cirrhosis, diagnosed 6 years prior. She had a history of heavy alcohol consumption but stopped after her diagnosis. She had been treated with glucocorticoids in the past but discontinued treatment and opted for natural supplements. She worked in healthcare, lived alone, and had no family history of liver disease. Her medical history included a tubal ligation, and she had no recent travel or significant animal exposure. She had been taking supplements such as milk thistle and buckthorn but no prescribed medications before admission.", | |
| "laboratory_tests": "Laboratory tests revealed profoundly abnormal results, including elevated liver enzymes (alanine aminotransferase: 190 U/L, aspartate aminotransferase: 204 U/L), hyperbilirubinemia (total bilirubin: 12.1 mg/dL), coagulopathy (INR: 4.2), leukocytosis (white-cell count: 16,930/mm³), and acute kidney injury (creatinine: 4.22 mg/dL). Blood cultures grew gram-negative spiral-shaped bacteria, later identified as Campylobacter jejuni. Other notable findings included hypoalbuminemia (albumin: 3.5 g/dL) and elevated lactate dehydrogenase (348 U/L).", | |
| "imaging_studies": "Imaging studies included abdominal ultrasonography, which revealed a nodular liver and ill-defined echogenicity in the right lobe. Chest radiography showed multifocal air-space opacities and bilateral pleural effusions. Computed tomography (CT) of the chest, abdomen, and pelvis confirmed diffuse ground-glass opacities in the upper lobes, central interlobular septal thickening, a nodular hepatic contour, prominent portal and perihepatic lymph nodes, and small-volume ascites.", | |
| "diagnosis": "Campylobacter bacteremia\nAutoimmune hepatitis." | |
| }, | |
| { | |
| "Index": "NEJMcpc1900592", | |
| "patient_info": "Chief Complaint: A 55-year-old man presented with jaundice, which he noticed one week prior to admission. He also reported symptoms of anorexia, malaise, nausea with dark-brown emesis, profuse nonbloody watery diarrhea, intermittent abdominal cramping, poor sleep, blurry vision, and episodes of forgetfulness and loss of concentration. These symptoms had persisted for two weeks. The patient had no fevers, chills, bleeding, or pulmonary or genitourinary symptoms.\nPatient Information and Medical History: The patient is a 55-year-old man with a history of opioid use disorder, hepatitis C virus (HCV) infection, osteoarthritis, depression, and anxiety. He was diagnosed with HCV while incarcerated but was not treated. He has a history of intravenous heroin use and had three episodes of overdose after his release from prison. He was previously treated with sublingual buprenorphine-naloxone for opioid use disorder. He is divorced, unemployed, homeless, and sleeps in a shelter. He has no known exposure to rodents or rodent excreta. He smokes cigarettes daily and previously consumed alcohol heavily but quit six years ago. His parents are deceased, and he is estranged from his siblings, whose medical history is unknown.", | |
| "laboratory_tests": "Laboratory tests showed elevated liver enzymes (alanine aminotransferase and aspartate aminotransferase), elevated bilirubin levels, and elevated C-reactive protein. The hepatitis C virus antibody and RNA tests were positive, indicating active HCV infection. Blood levels of electrolytes, glucose, lipase, complete blood count, differential count, and renal-function tests were normal. Serum toxicologic screening did not detect acetaminophen, salicylates, tricyclics, or ethanol. Urinalysis revealed clear, dark-yellow urine with a specific gravity of 1.020, pH of 7.5, trace ketones, and 2+ urobilinogen.", | |
| "imaging_studies": "Limited ultrasonography of the right upper quadrant revealed no bile-duct dilatation, a patent main portal vein with hepatopetal flow, and normal hepatic parenchymal echotexture. Diffuse, hypoechoic gallbladder-wall thickening was present, without gallbladder distention, cholelithiasis, or pericholecystic fluid. Trace perihepatic ascites was noted. Murphy’s sign was negative.", | |
| "diagnosis": "Acute hepatitis B virus coinfection\nHepatitis delta virus coinfection\nChronic hepatitis C virus infection" | |
| }, | |
| { | |
| "Index": "NEJMcpc2027092", | |
| "patient_info": "Chief Complaint: The patient, a 34-year-old woman, presented with acute abdominal and back pain that developed three years prior to her evaluation in the oncology clinic. The pain was severe enough to prompt her visit to the emergency department. Associated symptoms included biliary obstruction, as suggested by peripheral biliary dilatation observed on imaging studies.\nPatient Information and Medical History: The patient is a 34-year-old woman with a history of migraines and a previous allergic reaction to cisplatin. She does not smoke, drink alcohol, or use illicit drugs. She works full-time as a social worker and lives in New Jersey with her husband and child. Her family history includes breast cancer in her maternal grandmother, uterine cancer in a paternal aunt, and colon cancer in two paternal cousins. She was previously diagnosed with intrahepatic cholangiocarcinoma and underwent surgical resection followed by adjuvant chemotherapy.", | |
| "laboratory_tests": "Laboratory tests showed elevated CA 19-9 levels (42 IU/mL), while alpha-fetoprotein and carcinoembryonic antigen levels were normal. Liver function tests indicated mild elevations in aspartate aminotransferase (49 IU/L), alanine aminotransferase (51 IU/L), and alkaline phosphatase (167 IU/L). Complete blood count, electrolytes, and renal function tests were within normal limits.", | |
| "imaging_studies": "Initial abdominal ultrasonography revealed a lesion in the right lobe of the liver. Magnetic resonance imaging (MRI) showed a heterogeneous, hypoenhancing, lobulated lesion measuring 6.1 cm by 4.5 cm, with features suggestive of cholangiocarcinoma, including peripheral biliary dilatation, restricted diffusion, peripheral rim enhancement, and delayed central enhancement. Positron-emission tomography and computed tomography (PET-CT) confirmed FDG avidity in the hepatic mass without additional hypermetabolic sites. Follow-up imaging revealed disease progression, including new liver and lung lesions.", | |
| "diagnosis": "Intrahepatic cholangiocarcinoma" | |
| }, | |
| { | |
| "Index": "NEJMcpc2201231", | |
| "patient_info": "Chief Complaint: A 29-year-old woman presented with progressive pruritus, nausea, bloating, watery mustard-colored diarrhea, jaundice, right upper quadrant abdominal discomfort, amber-colored urine, fatigue, unintentional weight loss of 3.2 kg over the past month, and poor sleep. Symptoms began 7 weeks prior and persisted despite initial treatment with methylprednisolone, hydroxyzine, and diphenhydramine.\nPatient Information and Medical History: The patient is a 29-year-old woman with a history of anxiety and depression, no known drug allergies, and no regular medications. She occasionally smokes cigarettes, rarely drinks alcohol, and does not use illicit drugs. She works seasonally as an official at sporting events. Family history includes colon cancer in her maternal grandmother, maternal grandfather, and paternal grandmother; breast cancer in her maternal aunt and paternal aunt; thyroid cancer in her father; diabetes in her maternal grandmother; and coronary artery disease in both grandmothers.", | |
| "laboratory_tests": "Abnormal laboratory findings included elevated alanine aminotransferase (327 U/L initially, decreased to 85 U/L), aspartate aminotransferase (104 U/L initially, increased to 267 U/L), total bilirubin (5.8 mg/dL initially, increased to 6.7 mg/dL), and carbohydrate antigen 19-9 (73 U/mL initially, increased to 959 U/mL). Other abnormal indicators included elevated glucose (162 mg/dL) and alkaline phosphatase (172 U/L). Normal findings included hemoglobin, hematocrit, white-cell count, platelet count, sodium, potassium, chloride, carbon dioxide, urea nitrogen, creatinine, calcium, lipase, globulin, and albumin.", | |
| "imaging_studies": "Computed tomography (CT) of the abdomen revealed a distended gallbladder with sludge, dilated hepatic and pancreatic ducts, and a hypodense mass in the pancreatic head. Magnetic resonance cholangiopancreatography (MRCP) confirmed biliary and pancreatic duct dilatation with abrupt narrowing at the pancreatic head, along with a heterogeneously enhancing mass. Endoscopic ultrasonography (EUS) identified a hypoechoic mass in the pancreatic head. Follow-up imaging post-pancreaticoduodenectomy showed soft-tissue changes in the surgical bed and liver lesions suggestive of metastasis.", | |
| "diagnosis": "Pancreatic ductal adenocarcinoma" | |
| }, | |
| { | |
| "Index": "NEJMcpc2201249", | |
| "patient_info": "Chief Complaint: The patient, a 56-year-old man, presented with abnormal liver test results, including elevated levels of alanine aminotransferase, aspartate aminotransferase, and alkaline phosphatase. He also reported chronic dyspnea with exertion. The abnormal liver tests had been noted for at least three years, with recent development of thrombocytopenia and splenomegaly.\nPatient Information and Medical History: The patient is a 56-year-old man with a history of alcohol and opioid use disorder, currently in remission with buprenorphine-naloxone. He consumed six beers daily for approximately 30 years but had abstained for the past 18 months. He has a history of dyslipidemia, depression, insomnia, and multiple knee surgeries. Family history includes stroke in his father, diabetes in his mother, and rheumatoid arthritis in his sister. He previously tested positive for hepatitis C virus (HCV) antibodies, but HCV RNA was undetectable, ruling out active infection.", | |
| "laboratory_tests": "Laboratory tests over the past three years showed persistently elevated liver enzymes, including alanine aminotransferase (ALT), aspartate aminotransferase (AST), and alkaline phosphatase (ALP). Recent tests revealed pancytopenia, coagulopathy, and elevated ALP (427 U/liter), γ-glutamyltransferase (419 U/liter), and total bilirubin (3.3 mg/dl). Platelet count was low (43,000 per μl), and prothrombin time was prolonged (15.5 sec). Antimitochondrial antibodies were positive, and IgM levels were elevated (874 mg/dl).", | |
| "imaging_studies": "Magnetic resonance cholangiopancreatography (MRCP) revealed a nodular hepatic contour, splenomegaly, portal vein thrombosis with cavernous transformation, and perigastric, paraesophageal, and splenorenal collateral vessels. No focal hepatic lesions or intrahepatic bile duct dilatation was observed. Abdominal ultrasound showed persistent splenomegaly and heterogeneous liver echotexture without ascites. A computed tomographic scan of the head was normal.", | |
| "diagnosis": "Primary biliary cholangitis\nPortopulmonary hypertension" | |
| }, | |
| { | |
| "Index": "NEJMcpc2211363", | |
| "patient_info": "Chief Complaint: A 31-year-old woman presented to the hospital 15 days after the birth of her first child with severe abdominal pain in the left upper quadrant, radiating to the left flank and back, and a fever of 38.3°C. The pain worsened with movement and deep breathing and was rated 10/10 in severity. Symptoms persisted despite prior treatment with antibiotics for presumed pyelonephritis.\nPatient Information and Medical History: The patient is a 31-year-old woman who recently delivered her first child via vaginal delivery at 38 weeks and 1 day of gestation. Her medical history includes high-grade cervical dysplasia treated with a loop electrosurgical excision procedure five years prior, a ruptured ovarian cyst three years prior, and nephrolithiasis five months prior. She had no prior pregnancies and had been on oral contraceptives for 12 years. She took prenatal vitamins and occasional medications like acetaminophen and ibuprofen. She has no known drug allergies and lives with her husband and newborn in an urban area of New England. Her family history includes multiple sclerosis in her mother and coronary artery disease in her father.", | |
| "laboratory_tests": "Abnormal laboratory findings included elevated liver enzymes: alanine aminotransferase (ALT) 153 U/L, aspartate aminotransferase (AST) 44 U/L, and alkaline phosphatase 194 U/L. Hemoglobin decreased from 11.2 g/dL to 9.7 g/dL, suggesting hemorrhage. White blood cell count was elevated at 10,330/μL with increased neutrophils and decreased lymphocytes. Urinalysis showed 2+ blood and 1+ leukocyte esterase on Day 15. Glucose levels were elevated on both days.", | |
| "imaging_studies": "A transverse ultrasound of the left lobe of the liver revealed a large exophytic, heterogeneous lesion. CT imaging confirmed a 11.1 cm x 9.5 cm x 10.8 cm mass arising from the left hepatic lobe, exerting mass effect on the stomach. The mass contained hyperdense material consistent with hematoma, a large nonenhancing necrotic component, and vividly enhancing peripheral components. No biliary dilatation, cirrhosis, lymphadenopathy, or metastases were observed.", | |
| "diagnosis": "Hepatic adenoma" | |
| }, | |
| { | |
| "Index": "NEJMcpc2412516", | |
| "patient_info": "Chief Complaint: A 62-year-old man presented with persistent postprandial abdominal pain, which worsened in severity and frequency over the past six weeks. The pain was associated with nausea and vomiting, and he reported a significant weight loss of 20 kg over the previous two months. The pain was less severe after consuming bland, low-fat foods. The patient also noted an irreducible umbilical hernia, which had been reducible three months prior.\nPatient Information and Medical History: The patient is a 62-year-old man who immigrated to the United States from Costa Rica. He has a history of cirrhosis diagnosed one year prior in Costa Rica, though details of the diagnostic process were unavailable. He reported a history of hepatitis in childhood, which resolved without treatment. Five years ago, he sustained abdominal trauma from a motor vehicle crash. He has no surgical history, does not consume alcohol, smoke, or use illicit drugs, and has no family history of liver disease or thrombosis. Medications include pantoprazole and nadolol. He worked in cattle farming in Costa Rica and had no travel history outside the country before immigrating to the United States.", | |
| "laboratory_tests": "Laboratory tests showed a significantly low platelet count. Liver function tests revealed elevated alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, total bilirubin, and direct bilirubin. The international normalized ratio (INR) was slightly elevated. Total protein and albumin levels were within normal limits. Tests for causes of cirrhosis, including serum protein electrophoresis, ceruloplasmin, alpha-1-antitrypsin, and hepatitis B and C, were negative. Antinuclear antibodies, anti-smooth muscle antibodies, antimitochondrial antibodies, and antineutrophil cytoplasmic antibodies were not detected. Ferritin and iron levels were normal, with a transferrin saturation of 62%.", | |
| "imaging_studies": "Computed tomography (CT) of the abdomen and pelvis revealed a paraumbilical hernia with a 3.6-cm neck containing a nonobstructed loop of small bowel. The liver appeared shrunken with a lobulated contour and diffuse hypoattenuation. Extensive paraesophageal and mesenteric varices were present, and the portal vein and superior mesenteric vein were not identified, suggesting cavernous transformation of the portal vein. The spleen was enlarged, measuring 18.2 cm in the craniocaudal dimension. Doppler ultrasonography showed no flow in the main portal vein but normal flow through the hepatic veins, hepatic artery, and inferior vena cava. A transjugular liver biopsy revealed hepatic parenchymal atrophy, portal vascular remodeling, and nodular regenerative hyperplasia-like changes without evidence of cirrhosis.", | |
| "diagnosis": "Hepatic atrophy\nPortal vein thrombosis" | |
| }, | |
| { | |
| "Index": "NEJMcpc059014", | |
| "patient_info": "Chief Complaint: The patient, a 58-year-old man, presented with vague discomfort in the left upper quadrant and left epigastrium, which he had experienced for approximately one year. The discomfort typically began one hour after meals and subsided after one to two hours. It was associated with a feeling of abdominal fullness, which increased with physical exertion but did not awaken him at night. He also reported unintentional weight loss of 2 to 3 kg, which he attributed to a reluctance to eat large meals. A trial of histamine H₂-receptor antagonists did not provide relief.\nPatient Information and Medical History: The patient is a 58-year-old man with a history of borderline hypertension, hypercholesterolemia, coronary artery disease (including an inferior-wall myocardial infarction nine years prior), and nephrolithiasis. He is a long-time smoker, having smoked 20 cigarettes a day for 40 years, though he recently reduced his intake to 5 or 6 cigarettes a day. He consumes one to two cups of coffee and one to two alcoholic beverages daily. He lives with his wife and two children and has a stressful job in sales. His mother died of a cerebral aneurysm, and his father has coronary artery disease. His medications include atorvastatin, aspirin, and frequent ibuprofen. He has no known allergies.", | |
| "laboratory_tests": "Laboratory tests revealed an elevated CA 19-9 level of 510 U/mL, which is a tumor marker associated with pancreatic cancer. Other tests, including complete blood count, liver function tests, and levels of electrolytes, total protein, and albumin, were within normal ranges. Urinalysis was also normal.", | |
| "imaging_studies": "Initial abdominal CT, performed to evaluate a kidney stone, incidentally revealed a small abdominal aortic aneurysm. Follow-up abdominal ultrasonography showed an ectatic aorta with a maximal anteroposterior diameter of 2.9 cm, but no definite aneurysm. Subsequent abdominal and pelvic CT with contrast revealed an aneurysm measuring 3.8 cm in diameter with a mural thrombus. Additionally, a rounded, low-attenuation mass (1.9 cm by 2.4 cm) was identified in the head and neck of the pancreas, accompanied by pancreatic duct dilatation and pancreatic tail atrophy. Endoscopic retrograde cholangiopancreatography (ERCP) showed abrupt termination of the main pancreatic duct within the neck of the pancreas, and endoscopic ultrasonography revealed an irregular hypoechoic mass in the pancreatic head (23 mm in diameter) encasing the confluence of the superior mesenteric vein and portal vein. Fine-needle aspiration of the pancreas confirmed adenocarcinoma in the neck of the pancreas. Staging laparoscopy revealed benign findings in the liver and peritoneum.", | |
| "diagnosis": "Ductal adenocarcinoma of the pancreas, with residual microscopic tumor after chemoradiation therapy\nPancreatic intraepithelial neoplasia, grade 3, present at the distal resection margin" | |
| }, | |
| { | |
| "Index": "NEJMcpc059016", | |
| "patient_info": "Chief Complaint: A four-week-old male infant was admitted to the hospital due to jaundice, hyperbilirubinemia, thrombocytopenia, and abdominal distention. The jaundice was persistent, and the abdominal distention was noted by the father four days prior to admission. The infant also exhibited hypotonia and mild respiratory distress.\nPatient Information and Medical History: The infant was born at term via spontaneous vaginal delivery to a 37-year-old woman with an uncomplicated pregnancy. Prenatal screening indicated the mother had type A Rh-positive blood, with negative results for hepatitis B surface antigen and group B streptococcus. The mother was immune to rubella, and a rapid plasma reagin test was nonreactive. At birth, the infant was limp, cyanotic, apneic, and without a heartbeat, requiring resuscitation. Apgar scores improved from 0 at 1 minute to 8 at 10 minutes. The infant was transferred to a special care nursery and later to a tertiary care pediatric hospital due to persistent jaundice, respiratory distress, and abnormal liver function tests.", | |
| "laboratory_tests": "Laboratory tests showed type A Rh-positive blood with negative results for antibodies to red-cell antigens, glucose-6-phosphate dehydrogenase deficiency, Coombs' test, and Heinz-body preparation. Urinalysis showed trace blood, few red cells, and bilirubin. Blood cultures were negative. Liver function tests revealed persistent direct hyperbilirubinemia and elevated transaminase levels. Screening tests for galactosemia and tyrosinemia were negative. Iron overload was suggested by MRI findings of decreased signal intensity in the liver and pancreas.", | |
| "imaging_studies": "Chest radiography showed cardiomegaly and clear lungs. Cardiac ultrasonography revealed right ventricular hypertrophy, right ventricular hypertension, mild mitral regurgitation, trace tricuspid regurgitation, septal hypertrophy, a dilated ascending aorta, and a patent foramen ovale with bidirectional blood flow. Abdominal ultrasonography showed mild heterogeneity of the liver, splenomegaly, and no intrahepatic biliary dilatation. MRI of the liver revealed diffuse nodularity consistent with cirrhosis, heterogeneous liver parenchyma, and abnormal vasculature. A magnetic resonance angiogram showed an unusually large left portal vein and hypoplastic right portal vein.", | |
| "diagnosis": "Neonatal giant-cell hepatitis\nBridging fibrosis\nEarly regenerative nodules\nIron deposition in hepatocytes and Kupffer cells" | |
| }, | |
| { | |
| "Index": "NEJMcpc059019", | |
| "patient_info": "Chief Complaint: A 57-year-old man was admitted to the hospital due to a mass in the liver. The mass was initially detected five months prior to admission during a surveillance ultrasonographic examination, which revealed a 3 cm diameter mass in the right lobe of the liver. The mass grew to 4 cm in diameter by the time of admission, as confirmed by CT and MRI scans. The patient reported no significant symptoms other than a weight loss of 1.4 kg over the preceding five months.\nPatient Information and Medical History: The patient is a 57-year-old man of Chinese origin who immigrated to the United States 15 years ago. He has a history of chronic active hepatitis B virus (HBV) infection, diagnosed two years prior to admission. He was started on lamivudine one year before admission, which normalized liver function tests and reduced viral load. He underwent a cholecystectomy nine years earlier. He has a 10 pack-year smoking history but quit two years ago, rarely consumes alcohol, and has no history of intravenous drug abuse. His family history includes two siblings with HBV infection, and his mother died of congestive heart failure in her seventies. His father is alive and well in his eighties.", | |
| "laboratory_tests": "Complete blood count, serum glucose, electrolytes, albumin, globulin, bilirubin, renal function, and coagulation tests were all within normal ranges. Alanine aminotransferase (ALT) was elevated at 135 U/L, and aspartate aminotransferase (AST) was 78 U/L. Carcinoembryonic antigen (CEA) was 1.6 ng/mL, and alpha-fetoprotein (AFP) was 2.6 ng/mL, both within normal limits.", | |
| "imaging_studies": "Initial ultrasonography revealed a 3 cm mass in the right lobe of the liver. Subsequent CT and MRI scans confirmed the presence of a 4 cm mass in the dome of the right lobe, with multiple hepatic cysts. Triphasic CT and gadolinium-enhanced MRI showed a 4.7 cm by 4.5 cm mass with heterogeneous arterial enhancement, portal venous phase enhancement, and delayed peripheral rim enhancement. The mass straddled the middle hepatic vein but showed no evidence of venous invasion, lymphadenopathy, or cirrhosis. MRI provided greater intrinsic tissue characterization, confirming the mass as most consistent with hepatocellular carcinoma.", | |
| "diagnosis": "Hepatocellular carcinoma" | |
| }, | |
| { | |
| "Index": "NEJMcpc059037", | |
| "patient_info": "Chief Complaint: A 63-year-old woman presented with a pancreatic mass, initially noticed due to symptoms of dysuria, dark urine, pruritus, intermittent epigastric pain, weight loss of 5 kg over three months, light-colored stool, and a small purple area on her right arm. These symptoms persisted for four months before admission.\nPatient Information and Medical History: The patient is a 63-year-old woman who recently immigrated to the United States from the Dominican Republic. She has a significant family history of cerebrovascular disease, myocardial infarction, liver cancer, and asthma. She reported nasal congestion, nocturnal cough with watery sputum for the past year, and no history of fever, chills, or exposure to toxins. She does not drink alcohol, smoke, or use illicit drugs.", | |
| "laboratory_tests": "Urinalysis showed 3+ bilirubin and 2+ occult blood. Other tests, including electrolytes, calcium, phosphorus, magnesium, serum lipids, renal function, and complete blood count, were normal. Cytologic examination of fine-needle aspirates revealed reactive epithelial cells, acute and chronic inflammation, multinucleated giant cells, and epithelioid histiocytes forming granulomas. Acid-fast staining and fungal cultures were negative, but lymph node cultures later grew Mycobacterium tuberculosis.", | |
| "imaging_studies": "Initial abdominal CT revealed intrahepatic and extrahepatic bile duct dilatation, a periportal mass (3.1 cm by 3.6 cm), a complex cystic mass in the pancreatic head (2.9 cm by 2.4 cm), another cystic mass near the pancreatic tail (2.7 cm by 1.4 cm), and a low-density splenic lesion. Follow-up CT showed resolution of the pancreatic head mass but persistent retroperitoneal lymphadenopathy with low-density centers and enhancing rims. Chest radiographs revealed bilateral apical opacities. ERCP confirmed biliary stricture and successful stent placement.", | |
| "diagnosis": "Mycobacterium tuberculosis infection of the pancreas and peripancreatic lymph nodes" | |
| }, | |
| { | |
| "Index": "NEJMcpc059044", | |
| "patient_info": "Chief Complaint: The patient, a 35-year-old woman, presented with recurrent severe abdominal pain in the right upper quadrant, associated with jaundice, nausea, constipation, chills, and fever (up to 38.3°C). The pain was constant, did not radiate, and was not relieved by any maneuver. This episode of pain was similar to previous episodes that had led to prior hospitalizations and interventions for biliary stones.\nPatient Information and Medical History: The patient is a 35-year-old woman born in Vietnam who immigrated to the United States in her early 20s. She has a history of type 2 diabetes mellitus, hyperlipidemia, and depression. At age 18, she underwent an abdominal operation in Vietnam for unspecified abdominal pain. She has a history of hepatitis C infection, diagnosed one year prior to admission, and recurrent biliary stones requiring multiple endoscopic retrograde cholangiopancreatography (ERCP) procedures. She resides with her mother and sister and has no recent travel history or contact with sick persons. She takes unknown medications for migraine and hyperlipidemia.", | |
| "laboratory_tests": "Laboratory results showed elevated white-cell count (11,400/mm³) with 84% neutrophils, low calcium (7.9 mg/dL), elevated phosphorus (200 mg/dL), low albumin (3.0 g/dL), and mildly elevated liver enzymes (AST 55 U/L, ALT 46 U/L). Bilirubin, alkaline phosphatase, lipase, and creatinine levels were normal. Blood cultures grew Klebsiella pneumoniae. Tests for hepatitis B and C antibodies were positive, but hepatitis B antigen was negative. Stool examination revealed a few Strongyloides stercoralis rhabditiform larvae.", | |
| "imaging_studies": "Abdominal CT with contrast showed abnormal perfusion of the left lobe of the liver, dilatation of the left biliary radicles, and multiple filling defects suggestive of stones or sludge. MRI and MRCP revealed a stricture in the left hepatic duct, multiple filling defects (stones) in the dilated left hepatic ducts, and abnormal enhancement of the left lobe of the liver without a discrete mass. Periportal lymphadenopathy was also noted. ERCP demonstrated partial obstruction of the left main hepatic duct due to extrinsic compression, with purulent bile and small stones above the stenosis.", | |
| "diagnosis": "Ascaris lumbricoides infection\nGram-negative bacterial infection\nHepatolithiasis\nRecurrent pyogenic cholangiohepatitis\nChronic hepatitis C\nChronic cholecystitis" | |
| }, | |
| { | |
| "Index": "NEJMcpc069006", | |
| "patient_info": "Chief Complaint: A 46-year-old woman presented with rapidly increasing abdominal girth over five weeks, accompanied by a rapid weight gain (from 56.7 kg to 70.3 kg), right upper abdominal discomfort, nausea, and vomiting. She also developed dyspnea, which worsened when lying flat, and continued to experience nausea, vomiting, anorexia, and early satiety. Three days after discharge from a previous hospitalization, she returned to the emergency department due to recurrent abdominal distension despite ongoing diuretic therapy.\nPatient Information and Medical History: The patient is a 46-year-old woman born in Egypt, who emigrated to the United States seven years ago. She is a university professor near Boston, divorced, and lives with her teenage son. She does not use alcohol or tobacco. Her maternal grandmother had a history of deep venous thromboses and intestinal cancer. The patient has no personal history of thrombosis and does not take oral contraceptives. She had one pregnancy with a normal vaginal delivery and no miscarriages. Past medical history includes a partial thyroidectomy at age 22 for 'hyperactivity,' an appendectomy, and a tonsillectomy during childhood. She has no known allergies. Current medications include warfarin, spironolactone, zolpidem, and prochlorperazine as needed for nausea.", | |
| "laboratory_tests": "The serum-ascites albumin gradient was 1.2 g/dL, indicating portal hypertension. Liver biopsy showed venous outflow obstruction with changes suggestive of partial or incomplete cirrhosis. Hypercoagulability testing revealed heterozygosity for the factor V Leiden mutation. Additional abnormal findings included elevated liver enzymes and low ascitic fluid total protein (<2.5 g/dL).", | |
| "imaging_studies": "Abdominal Doppler ultrasonography revealed ascites, hepatofugal flow in the right portal vein, hepatopedal flow in the left portal and splenic veins, and a recanalized umbilical vein. The left and right hepatic veins were not visualized. Abdominal CT showed a narrow intrahepatic inferior vena cava. Venography confirmed narrowing of the intrahepatic inferior vena cava, and intravascular ultrasonography failed to visualize the hepatic veins. Ultrasonography of the right leg revealed deep venous thrombosis involving the right common femoral vein, superficial femoral vein, deep femoral vein, and popliteal vein.", | |
| "diagnosis": "Budd–Chiari syndrome, with centrilobular hepatocellular necrosis, sinusoidal dilatation, congestion, and red-cell extravasation consistent with the presence of venous outflow obstruction\nHeterozygosity for factor V Leiden\nV617F mutation in JAK2" | |
| }, | |
| { | |
| "Index": "NEJMcpc069024", | |
| "patient_info": "Chief Complaint: The patient, a 43-year-old white man, presented with hypogonadism, characterized by fatigue, decreased libido, and erectile dysfunction over the past six months. Ten weeks prior to evaluation, he developed additional symptoms of dry mouth and polyuria. He also reported a 4.5-kg weight loss and arthralgias in the ankles during this period.\nPatient Information and Medical History: The patient is a 43-year-old white man with a history of pulmonary sarcoidosis diagnosed three years earlier, which resolved after six months of corticosteroid therapy. He consumes 5 to 10 alcoholic beverages per week and has never smoked. He works as an engineer and has no significant changes in exercise tolerance. He has a family history of heart disease (father died at 49 years old) and no relevant family history of hemochromatosis. He has traveled extensively to South America, Cuba, Asia, and Egypt. He is married with one adopted child.", | |
| "laboratory_tests": "Laboratory tests revealed elevated transferrin saturation (97% on two occasions) and serum ferritin levels, consistent with iron overload. Liver function tests were abnormal, and iron indexes supported hemochromatosis. HFE genotyping confirmed homozygosity for the C282Y mutation.", | |
| "imaging_studies": "Cranial MRI revealed a partially empty sella turcica with no pituitary mass lesion. Abdominal and pelvic CT showed an enlarged liver and spleen. Abdominal MRI demonstrated decreased signal intensity in the myocardium, liver, and pancreas on T2-weighted images, with pancreatic atrophy, findings pathognomonic of hemochromatosis.", | |
| "diagnosis": "Hereditary hemochromatosis due to a homozygous C282Y mutation in the HFE gene\nHepatic cirrhosis\nDiabetes\nHypogonadism" | |
| }, | |
| { | |
| "Index": "NEJMcpc0801192", | |
| "patient_info": "Chief Complaint: The patient, a 45-year-old man, was admitted for orthotopic liver transplantation due to end-stage liver disease caused by hepatitis C virus (HCV) and hepatitis B virus (HBV) infections, compounded by chronic alcoholism. His primary complaints included recurrent jaundice, chronic pruritus, ascites, hepatic encephalopathy, and esophageal varices. In the weeks leading to admission, he experienced worsening encephalopathy, ascites, and hyponatremia.\nPatient Information and Medical History: The patient is a 45-year-old man with a history of non-A, non-B hepatitis diagnosed at age 18, likely due to tattoo exposure. He developed chronic hepatitis C and B infections, leading to hepatic cirrhosis diagnosed two years prior to admission. Complications included esophageal varices, fluid retention, ascites, and hepatic encephalopathy. He had a history of heavy alcohol use and underwent multiple therapeutic paracenteses for ascites. Past surgeries included umbilical hernia repair, left orchidopexy, tonsillectomy, and adenoidectomy. Family history includes coronary disease in his father and breast cancer in his mother. He worked in a factory with solvent exposure and had no history of intravenous drug use or blood transfusions.", | |
| "laboratory_tests": "Laboratory tests revealed significant abnormalities: 1) Hematocrit and hemoglobin levels were consistently low, with values as low as 17.4% and 6.0 g/dl, respectively. 2) Platelet counts fluctuated, dropping to 44,000/mm³ on the 6th hospital day. 3) Elevated bilirubin levels (total bilirubin peaked at 16.5 mg/dl). 4) Elevated liver enzymes (AST peaked at 1401 U/liter, ALT at 837 U/liter). 5) Hyponatremia (sodium levels as low as 129 mmol/liter) and hyperkalemia (potassium levels as high as 5.6 mmol/liter). 6) Positive stool test for Clostridium difficile toxin on hospital day 17. 7) Cryptococcal antigen detected in serum and cerebrospinal fluid, confirming cryptococcal meningitis.", | |
| "imaging_studies": "Imaging studies included: 1) Abdominal ultrasound showing mild ascites and patent hepatic, splenic, and pancreatic vessels post-transplantation. 2) CT scan of the brain on hospital day 14, which showed no evidence of intracranial hemorrhage, mass, or infarct. 3) MRI on hospital day 16, revealing abnormal hyperintensity in the basal ganglia, likely due to hepatic dysfunction. 4) Cholangiography on the 6th postoperative day showed no extravasation of contrast material or bile duct stones.", | |
| "diagnosis": "Disseminated cryptococcosis\nCryptococcal meningitis" | |
| }, | |
| { | |
| "Index": "NEJMcpc0807506", | |
| "patient_info": "Chief Complaint: A 58-year-old man with hemophilia A was admitted to the hospital due to recurrent bleeding, hepatitis C infection, and hepatocellular carcinoma. The patient had a history of multiple hemarthroses and was treated with blood products and clotting factors, which led to hepatitis C infection. The primary concern was the progression of hepatocellular carcinoma and recurrent bleeding episodes.\nPatient Information and Medical History: The patient is a 58-year-old man with a long-standing history of hemophilia A (factor VIII deficiency), diagnosed in infancy. He has a history of multiple hemarthroses and was treated with blood products and clotting factors, which led to hepatitis C infection (genotype 1a). Two years before admission, a liver biopsy revealed chronic hepatitis with bridging fibrosis but no cirrhosis. The patient also has a history of essential hypertension, benign prostatic hypertrophy, and urinary tract infections. Family history includes Parkinson’s disease, prostate cancer, rheumatoid arthritis, and coronary artery disease. One grandson has hemophilia and spina bifida.", | |
| "laboratory_tests": "Laboratory tests revealed the following abnormal indicators: Factor VIII levels were <1% (reference range 50–150%), indicating severe hemophilia A. Activated partial-thromboplastin time (aPTT) was prolonged (89.6 seconds). HCV RNA levels were >700,000 IU/mL. Alpha-fetoprotein levels were elevated (10.1 ng/mL). D-Dimer levels were significantly elevated (2457 ng/mL). Other abnormal findings included elevated aspartate aminotransferase (45 U/L) and low albumin (3.7 g/dL).", | |
| "imaging_studies": "Eight months before admission, surveillance ultrasonography revealed a solid, hypoechoic mass in the right hepatic lobe. MRI confirmed an encapsulated mass (3.8 cm by 3.8 cm) in the right lobe of the liver, with features suggestive of focal nodular hyperplasia, and an ill-defined mass (1.5 cm in diameter) near the tip of the right lobe. Seven months before admission, a fine-needle aspiration biopsy confirmed hepatocellular carcinoma. CT of the chest and abdomen confirmed the findings and revealed no abnormalities in the chest. Follow-up MRI after radiofrequency ablation showed residual disease and stable satellite lesions.", | |
| "diagnosis": "Hepatocellular carcinoma(pathologically T1, with undetermined presence or absence of metastases)\nChronic hepatitis C\nBridging fibrosis" | |
| }, | |
| { | |
| "Index": "NEJMcpc1000965", | |
| "patient_info": "Chief Complaint: A 58-year-old woman presented with severe, sharp pain in the right upper quadrant that developed suddenly two weeks prior. The pain was intermittent, rated up to 7/10 in severity, and worsened with movement or coughing. There was no radiation of pain, nausea, vomiting, or food intolerance. The pain persisted but decreased in intensity (rated 2/10) by the time of her visit to the hospital.\nPatient Information and Medical History: The patient is a 58-year-old woman with a medical history of diabetes mellitus type 2, hyperlipidemia, hypertension, glaucoma, arthritis, scoliosis, irritable bowel syndrome, and recurrent bronchitis and pneumonia. Previous surgeries include tonsillectomy, adenoidectomy, sinus surgery, and hysterectomy for uterine prolapse. She is currently prescribed lisinopril, timolol, lorazepam, and oxycodone for pain management. She has allergies to sulfa drugs, penicillin, and cephalosporins. She is divorced, lives with relatives, works in an office, and does not smoke, drink alcohol, or use illicit drugs. Family history includes Alzheimer's disease in her mother, colon cancer and end-stage renal disease in her father, and bilateral breast cancer in her sister in her 40s.", | |
| "laboratory_tests": "Plasma cortisol level was elevated at 23.5 µg/dL (reference range: 5-15 µg/dL). Vasoactive intestinal polypeptide was within normal limits at 32 pg/mL (reference range: <75 pg/mL). Cytologic examination of the liver mass revealed malignant cells positive for pancytokeratin and synaptophysin, with focal positivity for cytokeratin 7, and negative for chromogranin, cytokeratin 20, and thyroid transcription factor 1.", | |
| "imaging_studies": "Initial ultrasonography revealed an 11 cm mass in the right lobe of the liver. CT of the chest showed subsegmental atelectasis in the right lung. CT of the abdomen revealed a hypodense lesion (7.8 cm x 5.3 cm x 11 cm) in the right hepatic lobe, abutting the gallbladder, with slight heterogeneous enhancement. MRI of the liver with gadolinium confirmed a 9.4 cm x 12.3 cm x 8.5 cm lesion in the right lobe, with heterogeneous enhancement, and an additional 5 mm lesion in segment seven suggestive of metastasis. SPECT imaging showed decreased pentetreotide uptake in the right hepatic lobe corresponding to the mass. Colonoscopy revealed a large cecal mass, which was biopsied.", | |
| "diagnosis": "Poorly differentiated neuroendocrine carcinoma arising in a tubulovillous adenoma of the cecum, with metastasis to the liver." | |
| }, | |
| { | |
| "Index": "NEJMcpc1013928", | |
| "patient_info": "Chief Complaint: A 9-month-old boy presented with fever, diarrhea, and signs of liver failure. Symptoms began 2 days prior to admission and included lethargy, irritability, rhinorrhea, intermittent vomiting, nonbloody diarrhea, and decreased oral intake. The fever peaked at 38.1°C, and symptoms worsened despite initial treatment for presumed viral gastroenteritis.\nPatient Information and Medical History: The patient was born full-term via vaginal delivery with normal Apgar scores (8 and 9 at 1 and 5 minutes, respectively). Routine newborn metabolic screening was normal, and he received the hepatitis B vaccine. One month before admission, he had a respiratory infection, and 3 days prior, he sustained a forehead bruise from a fall. He had been otherwise healthy with normal growth and development. His only medication was acetaminophen (120 mg every 4-6 hours as needed for fever) for 1 day. His mother had recent respiratory symptoms and a history of childhood seizures. The patient had no known allergies, toxic exposures, or travel history.", | |
| "laboratory_tests": "Initial lab results showed hematocrit 24.7%, hemoglobin 9.2 g/dl, and white blood cell count 19,300/mm³, which decreased over three days. Platelet count dropped from 400,000 to 280,000/mm³. Prothrombin time increased to 18.7 seconds, and INR rose to 1.8. D-dimer levels spiked to 2353 ng/ml. Fibrinogen was low at 91 mg/dl. Electrolytes showed sodium 132 mmol/liter, potassium 5.7 mmol/liter, and carbon dioxide 18.7 mmol/liter. Liver function tests revealed normal bilirubin levels. Tests for viral infections (EBV, hepatitis A, B, C, and respiratory viruses) were negative. Blood, urine, and stool cultures were sterile.", | |
| "imaging_studies": "A CT scan of the brain without contrast was normal. Abdominal ultrasound revealed diffusely increased echogenicity in the liver parenchyma, consistent with fatty infiltration, and a small amount of pericholecystic fluid. A CT scan of the abdomen showed a markedly enlarged liver with diffuse hypoattenuation, consistent with fatty infiltration, and mild hepatomegaly. MRI of the brain showed advanced myelination of the white matter and abnormal lipid peaks on magnetic resonance spectroscopy.", | |
| "diagnosis": "Microvesicular hepatic steatosis due to CACT deficiency" | |
| }, | |
| { | |
| "Index": "NEJMcpc1100920", | |
| "patient_info": "Chief Complaint: The patient, a 19-year-old man, presented with recurrent episodes of severe epigastric pain, rated 7/10 in severity, which intermittently increased in intensity and radiated to the flanks and back. The pain was associated with constipation, difficulty sleeping, decreased appetite, and a weight loss of 4.5 kg over the previous week. Symptoms began approximately 6 months prior and were not relieved by antacids, acetaminophen, or other medications. The patient also reported a dry throat, subjective fever, and frontal headache during the initial episode.\nPatient Information and Medical History: The patient is a 19-year-old college student with a BMI of 40 (>97th percentile), indicating obesity. He has a history of consuming one or two alcoholic beverages twice weekly for the past five weeks, with a notable binge of six alcoholic drinks (0.7–1.0 liters of vodka and two beers) three days before the onset of symptoms. He smokes one or two cigarettes weekly but denies illicit drug use. Family history includes paternal high cholesterol, maternal grandfather with coronary artery disease, maternal grandmother with throat cancer, and other relatives with type 1 diabetes mellitus, gallstones, and alcoholism. The patient’s girlfriend recently had infectious mononucleosis. He has received routine immunizations and was generally healthy prior to these episodes.", | |
| "laboratory_tests": "Abnormal laboratory findings included elevated lipase (256 U/liter initially, peaking at 440 U/liter) and amylase (180 U/liter initially, peaking at 246 U/liter), consistent with pancreatitis. Urinalysis showed 1+ bilirubin, 2+ ketones, and trace albumin and urobilinogen. White-cell count was elevated during episodes (18,100/mm³), with neutrophilia (87%). High-density lipoprotein cholesterol was low (21 mg/dL). Other tests, including renal function, electrolytes, glucose, and liver enzymes, were within normal limits.", | |
| "imaging_studies": "Initial CT scan showed fat stranding and inflammation of the pancreas, consistent with pancreatitis, with a normal gallbladder and no biliary tree obstruction. Abdominal ultrasound revealed mild splenomegaly (14 cm) but no cholelithiasis, cholecystitis, or ascites. MRI of the abdomen with gadolinium and MRCP showed a normal pancreas, pancreatic duct, and common bile duct, with no evidence of structural abnormalities such as pancreas divisum or choledochal cysts.", | |
| "diagnosis": "Recurrent pancreatitis due to CFTR and SPINK1 mutations, triggered by alcohol." | |
| }, | |
| { | |
| "Index": "NEJMcpc010028", | |
| "patient_info": "Chief Complaint: The patient, a 44-year-old woman, presented with abdominal pain, chills, fever, and jaundice. The symptoms began eight days prior to admission and were accompanied by nausea, vomiting, and diarrhea. The abdominal pain was severe and persistent, with associated systemic symptoms indicative of infection.\nPatient Information and Medical History: The patient is a 44-year-old woman with a history of intrahepatic stones treated by lithotripsy five years prior to admission. She immigrated to the United States two years after the procedure. Nineteen months before admission, she experienced similar symptoms of abdominal pain, fever, and chills, which were diagnosed as intrahepatic bile duct dilatation and multiple intrahepatic calculi. She underwent cholecystectomy, choledochoscopy, stone extraction, and choledochojejunostomy two weeks later. Pathological findings revealed chronic cholecystitis and cholelithiasis, with cultures positive for alpha-hemolytic streptococci, enterococci, and rare gram-negative rods. She does not drink alcohol and her only medication is acetaminophen.", | |
| "laboratory_tests": "Blood tests revealed elevated total and conjugated bilirubin, slightly elevated protein, low albumin, and normal globulin levels. Urea nitrogen increased during hospitalization, while creatinine remained normal. Glucose was slightly elevated on admission. Enzymes such as alkaline phosphatase, aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase, lipase, amylase, and creatine kinase showed varying degrees of elevation. Urinalysis showed bile, protein, urobilinogen, and red and white blood cells. Stool was positive for occult blood, though the patient was menstruating. Cultures from abscess drainage grew Streptococcus milleri group, alpha-hemolytic streptococci, peptostreptococcus, bacteroides species, and rare Escherichia coli.", | |
| "imaging_studies": "Initial abdominal CT scans revealed marked intrahepatic bile duct dilatation and multiple intrahepatic calculi. Subsequent imaging showed decompression of the intrahepatic bile ducts but persistent calculi. On admission, a CT scan revealed multiple irregular areas of low attenuation in the left hepatic lobe, suggesting abscesses, and pneumobilia. Ultrasound confirmed pneumobilia and heterogeneous hepatic parenchyma with hypoechoic foci. Endoscopic retrograde cholangiopancreatography (ERCP) showed marked dilatation of the intrahepatic ducts, particularly on the left side, with possible bile-duct stenosis and multiple calculi up to 3.5 cm in diameter. A percutaneous transhepatic cholangiogram later confirmed communication between the left biliary ducts and an abscess cavity.", | |
| "diagnosis": "Recurrent pyogenic cholangitis (Oriental cholangiohepatitis)" | |
| }, | |
| { | |
| "Index": "NEJMcpc020003", | |
| "patient_info": "Chief Complaint: A 17-year-old boy presented with nearly constant crampy, nonradiating pain in the epigastrium, right upper quadrant, and periumbilical area, exacerbated by eating and accompanied by nausea. He also reported intermittent loose stools, a dry cough, left-sided pleuritic chest pain, and intermittent fever up to 38.3°C over the past several weeks. The symptoms began several weeks before admission and worsened in the two weeks prior, with a 3 kg weight loss noted during this period.\nPatient Information and Medical History: The patient is a 17-year-old male student with no history of alcohol or illicit drug use. Seventeen months prior, he was hospitalized for bloody diarrhea, diagnosed with Clostridium difficile infection, and treated with a one-month course of metronidazole. He had no family history of inflammatory bowel disease or rheumatic disorders. His immunizations were up to date, including hepatitis B vaccination. Physical examination revealed mild scleral icterus, sternal tenderness, and slight right upper quadrant abdominal tenderness. Stool was positive for occult blood, and urine was dark.", | |
| "laboratory_tests": "Laboratory findings included leukocytosis with a leftward shift, elevated aspartate aminotransferase (75 U/L), elevated alkaline phosphatase, low albumin, calcium, and cholesterol levels, and prolonged prothrombin time. Stool microscopy showed undigested muscle fibers and yeasts, with no protozoa or helminthic ova. Urine was positive for bile and minimally positive for urobilinogen. Stool culture was negative for enteric pathogens, and C. difficile toxin assay was negative.", | |
| "imaging_studies": "Chest radiographs showed bilateral prominence of interstitial markings and suggested right lower lobe pneumonia. Abdominal ultrasonography revealed no abnormalities. Endoscopic retrograde cholangiopancreatography (ERCP) was performed to evaluate biliary obstruction, showing narrowing of intrahepatic bile ducts. Liver biopsy revealed preserved hepatic architecture with periductal edema and fibrosis, characteristic of primary sclerosing cholangitis.", | |
| "diagnosis": "Primary sclerosing cholangitis\nCrohn’s disease" | |
| }, | |
| { | |
| "Index": "NEJMcpc020023", | |
| "patient_info": "Chief Complaint: A 54-year-old man presented with severe, diffuse abdominal pain, lethargy, fever (up to 38.3°C), night sweats, and unintentional weight loss of 16.1 kg over six weeks. He also reported a 6-to-12-month history of hematochezia. The patient noted abdominal distension and believed his liver was enlarged.\nPatient Information and Medical History: The patient is a 54-year-old male executive with no significant past medical history. He drinks two bottles of beer daily and does not smoke. He reported recent difficulty concentrating but denied chest pain, headache, nausea, vomiting, or diarrhea. Family history includes his mother’s death from leukemia at age 33. No other family history of malignancy was reported.", | |
| "laboratory_tests": "Abnormal indicators included elevated bilirubin (conjugated 5.1 mg/dl, total 5.8 mg/dl), decreased albumin (2.4 g/dl to 1.8 g/dl), elevated alkaline phosphatase (632 U/liter), elevated aspartate aminotransferase (324 U/liter), and extremely high lactate dehydrogenase (4,003 U/liter). CA 19-9 was elevated at 81 U/ml. Hematocrit decreased from 41.3% to 38.0% on admission. Urinalysis showed bilirubin and protein positivity, with red cells and calcium oxalate crystals in the sediment.", | |
| "imaging_studies": "CT scan of the thorax revealed numerous pulmonary nodules (≤0.6 cm) and mediastinal lymph nodes (largest 1.0 cm). Bilateral axillary lymph nodes (up to 2.0 cm) were noted. Abdominal and pelvic CT showed hepatomegaly with heterogeneous attenuation, a small amount of free fluid around the liver, and enlarged retroperitoneal, mesenteric, pelvic, and iliac lymph nodes. MRI of the brain revealed a 1.3 cm focal hyperintensity. No abnormalities were noted in the gallbladder, spleen, pancreas, adrenal glands, kidneys, or bowel.", | |
| "diagnosis": "Diffuse large-B-cell lymphoma, presenting in the liver" | |
| }, | |
| { | |
| "Index": "NEJMcpc030004", | |
| "patient_info": "Chief Complaint: The patient, a 14-year-old boy with a history of ulcerative colitis, was admitted to the hospital due to vomiting and severe abdominal pain. The abdominal pain was constant, diffuse, and worsening, with no associated fever, diarrhea, or urinary symptoms. The pain was most severe in the right upper quadrant and could not be controlled with oral opiates.\nPatient Information and Medical History: The patient is a 14-year-old boy diagnosed with ulcerative colitis at the age of three. His disease progression was well-controlled with mesalamine and short courses of adrenocorticosteroids for flares. He has a history of primary sclerosing cholangitis (PSC), diagnosed 14 months prior to the current admission, with multiple hospital admissions for complications including cholangitis, pancreatitis, and acute acalculous cholecystitis. He underwent a cholecystectomy and multiple endoscopic retrograde cholangiopancreatography (ERCP) procedures with stent placements. There is no family history of gastrointestinal or autoimmune diseases.", | |
| "laboratory_tests": "Laboratory tests showed elevated total bilirubin (peaking at 15.9 mg/dl) and conjugated bilirubin (peaking at 14.9 mg/dl). Albumin levels decreased significantly (from 2.7 mg/dl to 1.9 mg/dl). Amylase and lipase levels were initially elevated but decreased over time. Blood cultures grew Klebsiella oxytoca, indicating bacterial cholangitis. CA 19-9 antigen levels were extremely elevated (3000 U/ml), suggesting malignancy.", | |
| "imaging_studies": "Multiple imaging studies were performed, including abdominal and pelvic CT scans, which revealed biliary duct dilatation, bile lakes, and edema within the liver parenchyma. A biliary stent was noted in the porta hepatis. The pancreatic head was enlarged, but no discrete mass was observed. An upper gastrointestinal series showed a markedly enlarged stomach with a 7 cm stricture in the proximal duodenum. ERCP studies demonstrated strictures and dilatations in the intrahepatic biliary ducts, consistent with primary sclerosing cholangitis, and a stricture in the pancreatic duct.", | |
| "diagnosis": "Cholangiocarcinoma\nDuodenal stricture" | |
| }, | |
| { | |
| "Index": "NEJMcpc030022", | |
| "patient_info": "Chief Complaint: A 36-year-old man presented with recurrent epigastric pain lasting for five months. The pain was persistent and associated with elevated amylase levels, which did not normalize over time. There were no episodes of nausea, vomiting, or diarrhea.\nPatient Information and Medical History: The patient is a 36-year-old man with a history of hypertension managed with moexipril hydrochloride. He had a sigmoid colon resection 11 months prior due to diverticulitis, with no recurrence of symptoms. He does not smoke, drinks alcohol moderately on weekends, and exercises regularly. He reported a 5.5 kg weight loss recently, along with constipation and urinary frequency. Family history includes a paternal grandmother who died of 'stomach cancer,' but no family history of pancreatitis.", | |
| "laboratory_tests": "1. **Amylase**: Persistently elevated (349 U/L initially, 355 U/L at hospital admission; normal range: 25–115 U/L). 2. **Lipase**: Elevated (79.6 U/L; normal range: 0–60 U/L). 3. **Urinary Amylase**: Elevated (4258 U/L). 4. **Amylase-Clearance Ratio**: 3.6, inconsistent with acute pancreatitis but suggestive of smoldering pancreatitis. 5. **Other Tests**: Normal white-cell count, liver function tests, and hematocrit. Platelet count slightly elevated (382,000/mm³).", | |
| "imaging_studies": "1. **Abdominal Radiographs**: No evidence of bowel obstruction or perforation. 2. **Abdominal Ultrasonography**: No gallstones detected. 3. **Contrast-Enhanced CT Scan**: Enlargement of the pancreatic head and body, with stranding in the peripancreatic fat. No pancreatic duct or common bile duct dilatation. 4. **Endoscopic Retrograde Cholangiopancreatography (ERCP)**: Initial study showed a smooth stricture in the distal common bile duct and possible stricture in the left hepatic duct. Follow-up after corticosteroid therapy showed resolution of the bile duct stricture but persistent irregularity and obstruction of the pancreatic duct. 5. **Endoscopic Ultrasonography**: Diffuse parenchymal abnormalities in the pancreas, including hyperechoic strands, hypoechoic foci, and lobularity, suggestive of inflammatory or malignant infiltration.", | |
| "diagnosis": "Lymphoplasmacytic sclerosing pancreatitis" | |
| }, | |
| { | |
| "Index": "NEJMcpc030027", | |
| "patient_info": "Chief Complaint: The patient, a 75-year-old man, presented with a cystic lesion of the pancreas. He reported intermittent, mild, vague upper abdominal pain with possible early satiety for several years. The pain did not radiate to the back, and he had not experienced weight loss. He also had a history of gastroesophageal reflux, which was managed with pantoprazole.\nPatient Information and Medical History: The patient is a 75-year-old retired engineer with a history of hypertension, well-controlled with doxazosin and hydrochlorothiazide. He previously consumed four to five alcoholic beverages daily but reduced this to one drink daily in recent years. He does not smoke. Past imaging studies revealed a hyperechoic mass in the right hepatic lobe (hemangioma) and multiple hepatic cysts. Liver function tests were normal, but iron saturation was elevated at 53%. Physical examination revealed no abnormalities, with normal vital signs and no signs of rash, lymphadenopathy, or organomegaly.", | |
| "laboratory_tests": "Laboratory results were largely normal, including hematocrit (38.3%), white-cell count (6400/mm³), platelet count (359,000/mm³), and mean corpuscular volume (92 μm³). Liver function tests, electrolytes, glucose, bilirubin, and pancreatic enzymes (amylase, lipase) were within normal ranges. Cyst fluid analysis revealed elevated carcinoembryonic antigen (8960 ng/mL) and CA 72-4 (400 U/mL), consistent with a mucinous tumor. Cytologic examination showed mucinous glandular epithelial cells with moderate atypia, indicating a borderline tumor.", | |
| "imaging_studies": "Abdominal CT with contrast revealed a cystic lesion in the pancreatic duct at the junction of the body and tail of the pancreas, with slight ductal dilatation. A 2 cm fluid-filled structure contiguous with the duct was noted. The pancreatic duct was beaded and dilated from the head to the tail. The liver showed multiple cysts and a hemangioma, but no biliary duct dilatation or peripancreatic lymph node enlargement. Endoscopic ultrasound confirmed diffuse dilatation of the main pancreatic duct (3 mm) and identified a unilocular, thin-walled cyst communicating with the duct. Chest radiographs showed a questionable nodular opacity in the right hilar region and a tortuous thoracic aorta.", | |
| "diagnosis": "Intraductal papillary mucinous carcinoma of the pancreas" | |
| }, | |
| { | |
| "Index": "NEJMcpc030040", | |
| "patient_info": "Chief Complaint: A 28-year-old man presented with severe abdominal pain localized to the right upper and right lower quadrants, which began as mild epigastric pain 10 days prior. The pain became constant and severe two days before admission, accompanied by nausea, chills, and a fever of 38.3°C. No vomiting, jaundice, or gastrointestinal bleeding was reported.\nPatient Information and Medical History: The patient is a 28-year-old man from Morocco who immigrated to the United States 13 months prior. He has no history of abdominal surgery, diarrhea, hematochezia, melena, or contact with ill persons. He smokes cigarettes but does not consume alcohol. His family history includes a brother who had active tuberculosis during childhood.", | |
| "laboratory_tests": "Urinalysis showed ketones (+), 2 red cells, 3-5 white cells, and a few bacteria per high-power field. Hematologic tests revealed a white-cell count of 11,000/mm³ (79% neutrophils) and a hematocrit of 39.6%. Liver function tests, amylase, lipase, and other biochemical markers were normal. A serologic test for Helicobacter pylori was positive. Fine-needle aspiration of the lesion showed acute inflammation with chronic inflammation and reactive ductal epithelium, suggesting an abscess.", | |
| "imaging_studies": "Abdominal radiographs showed air-filled loops of small bowel without dilatation or air-fluid levels, and no free intraperitoneal air. Abdominal and pelvic CT scans revealed a well-defined, 5 cm mass in the head of the pancreas, with no evidence of metastatic disease. A specialized CT study showed a complex, multicytic mass (3.2 x 5.1 cm) contiguous with the pancreatic head, with heterogeneous enhancement and multiple cystic nodules near the porta hepatis. Endoscopic ultrasonography confirmed a heterogeneous, mixed lesion with solid and cystic components adjacent to the pancreas.", | |
| "diagnosis": "Tuberculous lymphadenitis" | |
| } | |
| ] |