Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 54-year-old man presented with a rare case of cavernous angioma located in the ventral vermis manifesting as sudden onset of vertigo, followed by cerebellar ataxia. T(1)-weighted magnetic resonance imaging revealed a 1.5-cm homogeneously enhanced lesion in the ventral vermis. The postpyramidal fissure was opened widely, and upward exploration through the incision enabled piecemeal removal of the lesion without deterioration of the symptoms. The histological diagnosis was cavernous hemangioma with ruptured enlarged varices. The trans-postpyramidal fissure approach allows visualization of the entire fourth ventricle and avoids damaging the cerebellar nuclei and major postoperative cerebellar dysfunction.
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PMID:Trans-postpyramidal fissure approach for ventral vermian cavernous hemangioma. 2161 64

A 30-year-old man was admitted to Osaka University Hospital for the treatment of gastric varices and assessment of indication for liver transplant. When he was 6 years old, liver dysfunction was pointed out and diagnosed as chronic inactive hepatitis by liver biopsy. At 13 years of age, the second liver biopsy proved congenital hepatic fibrosis (CHF). The third liver biopsy was performed when he was 30 years old, and the progression of hepatic fibrosis was confirmed. Besides CHF, we recognized oligophrenia, cerebellar ataxia, hypoplasia of cerebellar vermis and coloboma, leading to the diagnosis of COACH syndrome. COACH syndrome is quite rare, and our case is especially valuable because he was diagnosed as an adult case and the progression of hepatic fibrosis could be followed through several liver biopsies. We should be aware of COACH syndrome in mind when we encounter CHF patients.
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PMID:[Progression of hepatic fibrosis observed by repeated liver biopsies in an adult case of COACH syndrome]. 2279 Jun 27