Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. Sulfite and S-sulfocysteine were also present in the plasma. His inorganic sulfate excretion was only 50 per cent of total sulfur, as compared with 75 to 95 per cent by controls. Loading with L-cysteine hydrochloride and L-methionine further increased the excretion of sulfite and thiosulfate, but not inorganic sulfate excretion. Sulfite oxidase activity in skin fibroblasts average 1.07 nmol of cytochrome d reduced per milligram of protein per minute in control lines; it was not detectable (less than 5 per cent) in the patient. Activity was reduced in both parents (0.50 in the father and 0.32 in the mother)--compatible with autosomal recessive inheritance. Good biochemical responses to a low sulfur amino acid diet suggest that early treatment may benefit the patient.
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PMID:Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. 30 14

We present a Norwegian family with familial hemiplegic migraine (FHM) with possibly four affected in three generations. The family had a point mutation in the ATP1A2 gene that caused a change of the amino acid valine to methionine (V628 M). The symptoms were pure FHM with intra- and interindividual variability, and epilepsy is not part of the clinical picture. Attacks could be provoked by physical activity. The proband had prolonged attacks of FHM, and was hospitalized due to such an attack provoked by a minor head trauma. The initial management was conservative, but due to persistence of the hemiplegia on day 9, a continuous nimodipine infusion was initiated in order to prevent cerebrovascular vasospasm. However, the nimodipine infusion worsened the patient's symptoms and possibly provoked a generalized tonic-clonic seizure due to vasodilatation and reduced cerebral blood flow. The MRI showed cortical edema and the SPECT showed reduced perfusion on the contralateral side of the hemiplegia. We conclude that nimodipine is contraindicated in the management of prolonged FHM attacks, and recommend conservative management and supplement of sufficient intravenous fluid in nauseated patients in order to avoid hypovolemia.
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PMID:Intravenous nimodipine worsening prolonged attack of familial hemiplegic migraine. 1884 13