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)

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

Loss-of-function and hypomorphic ECHS1 variants are associated with mitochondrial short-chain enoyl-CoA hydratase deficiency, an inborn error of valine metabolism. We report an 8-year-old boy with developmental delay, ataxia, hemiplegia, and hearing loss with abnormalities in the basal ganglia. Biochemical studies were essentially normal except for a persistent mildly elevated CSF alanine. This patient demonstrates an intermediate phenotype between a Leigh-like, early-onset presentation and paroxysmal exercise-induced dyskinesia. Two novel ECHS1 variants (c.79T>G; p.Phe27Val and c.789_790del; p.Phe263fs) were identified via exome sequencing in the proband, and pathogenicity was confirmed by enzyme assay performed on patient fibroblasts. Neither of the ECHS1 variants detected in the child were present in the mother. However, due to nearby polymorphisms, it was possible to determine that p.Phe263fs occurred de novo on the maternal chromosome and that p.Phe27Val likely derived from the paternal chromosome. Nearby polymorphisms can help set phase of variants when only a single parent is available for testing or when an identified variant occurs de novo.
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PMID:Extrapolation of Variant Phase in Mitochondrial Short-Chain Enoyl-CoA Hydratase (ECHS1) Deficiency. 2992 89