Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We reported a case of 4-year-old boy with multiple vitamin deficiencies, especially vitamin B1 deficiency. He had megaduodenum associated with membranous stenosis on upper jejunum. He showed recurrent vomiting at his infantile period, and recently intermittent neurological symptoms. When he was admitted to our hospital, he could not walk and showed masked face, absent deep tendon reflexes, horizontal and vertical nystagmus, proximally dominant muscle weakness and multiple vitamin deficiencies. Oral administration of small doses of vitamin B1 (20 mg/day) could make remarkable clinical improvements. At three weeks after the treatment he could walk and run. Before the admission he had febrile convulsions and showed transiently striatal low density on CT image. We concluded that his neurological symptoms were due to vitamin B1 deficiency associated with megaduodenum. When a patient with intestinal anomaly shows neurological symptoms, we should think of vitamin deficiency.
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PMID:[A case with severe neurological involvement due to vitamin B1 deficiency associated with megaduodenum]. 846 Nov 66