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

Diencephalic syndrome (DS) is a complex of signs and symptoms related to hypothalamic dysfunction. Its main features are emaciation despite normal energy intake and an alert appearance. This syndrome has been described in association with space-occupying lesions of the hypothalamic-optic chiasm region, mainly low-grade glioma, and less often with tumors in the proximity of the IV ventricle. Two patients with DS are reported. The first patient was an 8-month old boy with classical features of DS. Extensive investigation of malabsorption revealed no abnormalities and the first neurologic sign was a rotatory nystagmus. Magnetic resonance imaging (MRI) showed evidence of a hypothalamic tumor, which was identified after surgical resection as a pilocytic astrocytoma. The second patient was an adolescent boy who presented a 20-kg weight loss over a 6-month period and psychological disturbances. Gastrointestinal disease was ruled out as a cause of malnutrition. Because of a polydipsia-polyuria syndrome, manifest while the patient was hospitalized with a suspected diagnosis of anorexia nervosa, MRI of the brain was performed. Multiple intracranial lesions were revealed, mainly in the hypothalamus, and were identified as a disseminated disgerminoma. No neurologic signs or symptoms were present. The patients died 2 years and 1 year after diagnosis, respectively. Although DS is rare, it should be considered in severe failure to thrive or emaciation despite adequate food intake and normal absorptive function of the small bowel.
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PMID:[Diencephalic syndrome: An uncommon cause of malnutrition]. 1204 23

The case of a 49-year-old woman with Wernicke's encephalopathy is described, in which primary position upbeating nystagmus was the chief ocular sign. Although there was no history of excessive alcohol consumption, Wernicke's encephalopathy was diagnosed on a background of anorexia nervosa. The diagnosis was supported by the patient's symptomatic and clinical recovery following thiamine therapy.
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PMID:Wernicke's encephalopathy presenting with upbeating nystagmus. 1221 87

A 16-year-old girl was admitted to the emergency department because of acute changes in mental state such as paranoid and nihilistic delusions, confabulations, and distortions of body schema perception. Her history was compatible with anorexia nervosa in that she had lost more than 17 kg in weight over one and a half years. Her body mass index was 14. She was diagnosed with Wernicke Korsakoff's syndrome and was given intravenous thiamine at 250 mg/day. Response was dramatic for nystagmus and gait incoordination but not for other symptoms. After dosage was increased to 750 mg/day all symptoms including psychosis improved. With her increase in food consumption, secondary deterioration was observed and diagnosed as refeeding syndrome. After proper replacements she was completely normal in the 9th month, and her weight was 55 kg. This patient was interesting for the presenting symptoms (psychosis), and improvement by high doses of thiamine replacement, and also for refeeding syndrome during this period.
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PMID:Anorexia nervosa and Wernicke Korsakoff's syndrome: atypical presentation by acute psychosis. 1995 Jan 17