Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a case of a patient who presented with a 20-day history of vomiting, generalised weakness and loss of appetite and a 2-day history of altered sensorium. On examination, he was grossly emaciated and there were no palpable lymph nodes. Central nervous system examination revealed nystagmus with bilateral lateral recti palsy and abdominal examination showed mild hepatomegaly. MRI of the brain showed bilateral and symmetrical hypertense signal changes in T2-weighted and fluid-attenuated inversion recovery sequences with diffusion restriction in the paramedian ventromedial thalamus. These findings were compatible with Wernicke's encephalopathy. He was started on thiamine supplementation with which neurological signs improved. An ultrasound of the abdomen showed mild hepatomegaly with multiple hyperechoic lesions and wall thickening of the pyloric antrum. Upper gastroduodenoscopy showed ulcerative lesions involving the antrum, pylorus and duodenum. Biopsy revealed moderately differentiated adenocarcinoma. The patient underwent palliative gastrojejunostomy and was clinically better at discharge. It is important to consider Wernicke encephalopathy in patients with gastric cancer who have acute neurological symptoms.
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PMID:Wernicke's encephalopathy in a patient with gastric carcinoma: a diagnosis not to miss. 2465 52

An 11-year-old girl presented with abnormal weight gain and was found to have hepatomegaly. MRI of the abdomen revealed a 20-cm hepatic mass. F-FDG PET/CT showed a large hypermetabolic calcified hepatic mass and couple of mildly hypermetabolic pulmonary nodules with associated intrathoracic lymphadenopathy. Liver biopsy was consistent with nested stromal epithelial tumor of the liver, a rare nonhepatocytic, nonbiliary primary neoplasm of the liver associated with variable calcification and ossification.
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PMID:CT, MRI, and 18F-FDG PET/CT in a patient with nested stromal epithelial tumor of the liver. 2514 May 42

Lysosomal acid lipase (LAL) is responsible for the hydrolysis of cholesterol esters and triglycerides. LAL is coded by the LIPA gene on chromosome 10q23.31. Its deficiency leads to two autosomal recessive disorders, Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD). WD has an estimated incidence of 1 in 500,000 live births and is the result of a complete loss of LAL and presents in infancy with vomiting, diarrhea, poor weight gain and hepatomegaly subsequently leading to death. CESD is the result of partial loss of LAL and its presentation is more variable. Patients may be asymptomatic or present with nonspecific gastrointestinal symptoms, hepatomegaly, elevated transaminases and dystipidemia which may be confused with the diagnosis of Non-alcoholic Fatty Liver Disease. CESD is currently underdiagnosed and has an estimated prevalence as high as I in 40,000 individuals. Radiologic findings in WD is calcification of the adrenal glands. Hepatomegaly is noted on CT scan in both WD and CESD. MRI may demonstrate accumulation of cholesterol esters and may be useful to study effects of potential medical therapies. The diagnosis of WD and CESD is based on LIPA gene sequencing and the measurement of LAL levels in peripheral blood leukocytes. Treatment of LAL deficiency is currently limited to control of cholesterol levels and to prevent premature atherosclerosis. Use of enzyme replacement therapy with recombinant human LAL in short-term studies has shown to be safe and effective.
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PMID:Lysosomal acid lipase deficiency: diagnosis and treatment of Wolman and Cholesteryl Ester Storage Diseases. 2534 94

A fifty-five year old female patient presented with jaundice, subfebrile fever and dark yellow urine since one month before admission. She lost weight 10 kilograms during one month. One day before admission to Ciptomangunkusumo General Hospital, she complained of worsened abdominal pain at right upper quadrant urging her to come to the emergency room. An abdominal examination revealed Murphy sign, mild hepatomegaly and deeply icteric sclera. Serum bilirubin was 21.8 mg/dl, alkaline phosphatase and gamma-glutamyltransferase levels were significantly elevated (1090 IU/L and 560 IU/L consecutively) while the transaminases were moderately high (ALT 80 U/L). The C-reactive protein was 555 mg/L. An abdominal ultrasound examination revealed dilatation of right and left intrahepatic bile duct and presence of common hepatic duct stone. Subsequent magnetic resonance imaging/magnetic cholangiopancreatography (MRI/MRCP) revealed intrahepatic bile duct dilatation, multiple CBD stone and benign stricture at common hepatic duct causing right and left intrahepatic bile duct obstruction.We assessed the patient as acute cholangitis and obstructive jaundice suspected to be caused by biliary duct stone then we performed endoscopic retrograde cholangiopancreatography (ERCP), we revealing stenosis at distal CBD, multiple CBD stone, giant stone in CHD and dilatation of bilateral IHBD. We performed CBD stone extraction then inserted biliary stent for drainage. Then we planned to do second ERCP with SpyGlassTM for giant stone extraction. After the first ERCP, the clinical condition of the patient improved and the bilirubin decreased to 10 mg/dL. In the next two weeks we performed a second ERCP to extract the giant stone with SpyGlass TM. However, after we inserted SpyGlassTM into the biliary duct, what we found were not as we expected before. We revealed that there was a mass in biliary duct and there was no CBD stone. We did the biopsy and inserted a new plastic stent (after removed the older one) to the common biliary duct. Surprisingly, the result of histopathology also supports our findings, which was the adenocarcinoma at common bile duct.
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PMID:The role of per oral cholangiopancreatoscopy (POCPS) in complicated pancreaticobiliary disease. 2626 May 60

A 35-year-old man presented with a 3-year history of arthralgia and purple coloration of the skin of his fingers and feet. Hand and foot radiography showed cystic bone lesions on phalanges suggestive of sarcoidosis. Lab tests revealed increased liver enzymes. Liver MRI evidenced an enlarged liver and retroperitoneal lymphadenopathy. Histological analysis of the finger skin, lymph nodes and liver demonstrated the presence of granulomas, confirming the diagnosis of sarcoidosis. The patient started prednisolone with rapid improvement of the symptoms. Skin lesions are divided into two groups: specific for sarcoidosis (with granulomas, lupus pernio-like) and nonspecific (without granulomas, erythema nodosum-like). Specific cutaneous lesions usually cause no other symptoms beyond cosmetic changes. Lupus pernio stands out for having distinctive features but, to the best of our knowledge, the simultaneous involvement of both hands and feet has never been reported.
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PMID:Sarcoidosis: An unusual presentation. 2706 92

Melioidosis is an uncommon tropical infectious disease caused by Burkholderia pseudomallei. Neurological complications of melioidosis are extremely uncommon in infants. A 10-month-old girl is described who presented with disseminated melioidosis with subcutaneous nodules, arthritis, hepatomegaly and a lung cavity, and developed a left medial rectus palsy. Cranial MRI demonstrated mid-brain, pontine and basal ganglia micro-abscesses. Therapy with meropenem and cotrimoxazole led to resolution of the medial nerve palsy. At 5-month follow-up, the child had no residual neurological deficits.
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PMID:Brainstem micro-abscesses caused by Burkholderia pseudomallei in a 10-month-old infant: a case report. 2737 38

Tuberous sclerosis is characterized by typical skin and clinical manifestations with predilection to neoplasia. We describe the case of a 42-year old female who presented with a mass and pain in right lumbar region with constitutional symptoms and generalized body aches since last one year. She had adenoma sebaceum, subungual fibromas and hepatomegaly. CT chest, abdomen and MRI revealed mass in the right renal fossa with wide spread extensions in the abdomen, left renal angiomyolipomas (AMLs) and intracerebral lesions. Her clinical and radiological findings were suggestive of tuberous sclerosis with multiple mass lesions. She had past history of being operated for right renal AML twelve years ago. In current admission she developed refractory seizures and required mechanical ventilation. Biopsies from the renal fossa mass and liver revealed epithelioid variant angiomyolipomas. It is an uncommon variant which can present with features of malignancy or local recurrence or distant metastasis occasionally. Our case emphasizes the importance of being acquainted with skin lesions which can help in early diagnosis and management of tuberous sclerosis.
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PMID:Tuberous Sclerosis with Disseminated Malignancy. 2780 37

Riedel's lobe is a normal variant form of right liver lobe rarely found. Here we report a case of 38 years old female with an incidental finding not revealed in physical examination, but then known to have hepatomegaly by gynecological ultrasonography. Diagnosis of Riedel's lobe was strengthened by similar results on hepatobiliary ultrasonography, abdominal MRI, and diagnostic laparoscopy. Our patient was discharged and had follow up examination three months later. Knowledge regarding this anomaly is essential to be understood because the finding of accessory liver lobe does not always remain asymptomatic as in our patient, but rather can be related to significant clinical complication.
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PMID:Riedel's Lobe: Clinical Importance of a Rare Variant in Liver Morphology. 2845 Jun 55

We report an 8-month-old infant with decreased consciousness after a febrile episode and reduced oral intake. He was profoundly acidotic but his lactate was normal. Serum triglycerides were markedly elevated and HDL cholesterol was very low. The urine organic acid analysis during the acute episode revealed a complex pattern of relative hypoketotic dicarboxylic aciduria, suggestive of a potential fatty acid oxidation disorder. MRI showed extensive brain abnormalities concerning for a primary energy deficiency. Whole exome sequencing revealed heterozygotic HMGCS2 variants. HMGCS2 encodes mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthase-2 (HMGCS2), which catalyzes the irreversible and rate-limiting reaction of ketogenesis in the mitochondrial matrix. Autosomal recessive HMG-CoA synthase deficiency (HMGCS2D) is characterized by hypoketotic hypoglycemia, vomiting, lethargy, and hepatomegaly after periods of prolonged fasting or illness. A retrospective analysis of the urine organic acid analysis identified 4-hydrox-6-methyl-2-pyrone, a recently reported putative biomarker of HMGCS2D. There was also a relative elevation of plasma acetylcarnitine as previously reported in one case. Our patient highlights a unique presentation of HMGCS2D caused by novel variants in HMGCS2. This is the first report of HMGCS2D with a significantly elevated triglyceride level and decreased HDL cholesterol level at presentation. Given this, we suggest that HMGCS2D should be considered in the differential diagnosis when hypertriglyceridemia, or low HDL cholesterol levels are seen in a child who presents with acidosis, mild ketosis, and mental status changes after illness or prolonged fasting. Although HMGCS2D is a rare disorder with nonspecific symptoms, with the advent of next-generation sequencing, and the recognition of novel biochemical biomarkers, the incidence of this condition may become better understood.
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PMID:Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. 2903 Aug 56

Glycogenic hepatopathy (GH) is a rare complication of the poorly controlled diabetes mellitus characterized by the transient liver dysfunction with elevated liver enzymes and associated hepatomegaly caused by the reversible accumulation of excess glycogen in the hepatocytes. It is predominantly seen in patients with longstanding type 1 diabetes mellitus and rarely reported in association with type 2 diabetes mellitus. Although it was first observed in the pediatric population, since then, it has been reported in adolescents and adults with or without ketoacidosis. The association of GH with hyperglycemia in diabetes has not been well established. One of the essential elements in the pathophysiology of development of GH is the wide fluctuation in both glucose and insulin levels. GH and non-alcoholic fatty liver disease (NAFLD) are clinically indistinguishable, and latter is more prevalent in diabetic patients and can progress to advanced liver disease and cirrhosis. Gradient dual-echo MRI can distinguish GH from NAFLD; however, GH can reliably be diagnosed only by liver biopsy. Adequate glycemic control can result in complete remission of clinical, laboratory and histological abnormalities. There has been a recent report of varying degree of liver fibrosis identified in patients with GH. Future studies are required to understand the biochemical defects underlying GH, noninvasive, rapid diagnostic tests for GH, and to assess the consequence of the fibrosis identified as severe fibrosis may progress to cirrhosis. Awareness of this entity in the medical community including specialists is low. Here we briefly reviewed the English literature on pathogenesis involved, recent progress in the evaluation, differential diagnosis, and management.
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PMID:Glycogenic hepatopathy: A narrative review. 2952 55


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