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)

A case of aneurysm of the great vein of Galen was reported in which craniotomy and clipping of a feeding artery arising from the left posterior cerebral artery was successfully performed. This 5-month-old girl developed progressive hydrocephalus from 2 months after birth. At 5 months the head circumference was 50 cm with tense enlarged fontanelle. Both eye balls were deviated downward. The deep tendon reflexes were hyperactive with bilateral ankle clonus and positive Babinski's sign. Mild cardiomegaly and hepatomegaly were also noted. Cerebral angiograms showed a large aneurysm of the great vein of Galen fed by a single enlarged arterial branch from the left posterior cerebral artery. After the evaluation of systemic circulatory status and under strict control of fluid transfusion craniotomy was performed. The feeding artery was clipped at its entrance to the aneurysm via left parieto-occipital interhemispheric approach. A rise in the mean arterial blood pressure of 20 mmHg was observed immediately following clipping. The postoperative course was satisfactory except for a left subdural fluid collection which required subduro-peritoneal shunt. The aneurysm was completely disappeared on the postoperative angiograms and the child is regaining the normal development. This is the first case of aneurysm of the great vein of Galen successfully operated in Japan. Clinical symptoms and signs, radiological features and operative treatment of the disease were reviewed from a total of 46 cases reported in the world literature.
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PMID:[Aneurysm of the great vein of Galen--report of a case (author's transl)]. 98 98

Dorfman-Chanarin syndrome is a rare, autosomal recessive inherited lipid storage disease with congenital ichthyotic erythroderma due to an acylglycerol recycling defect. It is characterized by accumulation of neutral lipids in different tissues. Liver, muscle, ear, eye, and central nervous system are generally involved, so we presented a patient with severe ichthyosis, lipid vacuoles in neutrophils, and multiorgan involvement including a very rare complication, renal involvement. A 7-month-old girl was presented with frequent respiratory infection, congenital ichthyotic erithroderma and suspicion for immune deficiency. On her physical examination hepatomegaly, developmental delay, palmar and plantar hyperkeratosis and increased deep tendon reflexes with clonus and high tonus were found. Laboratory investigations revealed elevation at transaminases levels, hypoalbuminemia, hypergammaglobulinemia, presence of autoantibodies and eosinophilia. Vacuolization in leukocytes confirmed Dorfman-Chanarin syndrome, whereas no mutation at RAG1-2 and ARTEMIS genes ruled-out immune deficient status of the patient. At the age of eight months the patient died from severe renal failure. Her necropsies demonstrated microvesicular lipid accumulation not only at the liver but also at the renal species. The variability of involvement of different systems in Dorfman-Chanarin syndrome is well described, however the renal findings has not been reported previously at the literature.
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PMID:Renal involvement as a rare complication of Dorfman-Chanarin syndrome: a case report. 1857 36