Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026838 (spasticity)
 6,471 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A male infant with ornithine transcarbamylase (OTC) deficiency is described who was relatively symptom free for 4 months, gradually developed severe spasticity due to cerebral atrophy, and died at 13 months of age. Liver OTC activity was 1.5% of the normal mean. The mutant OTC showed an increased apparent Km for ornithine and an increased pH optimum. These kinetic findings fail to explain the atypical clinical course. The clinical picture of patients with genetic OTC deficiency who present during acute exacerbations together with the elevation of serum glutamic oxaloacetic transaminase and microvesicular fat accumulation in liver, as seen in this case, may suggest Reye's syndrome; however, electronmicroscopic examination of this patient suggested that the normal appearance of mitochondria helps to distinguish the two.
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PMID:Atypical clinical course of ornithine transcarbamylase deficiency due to a new mutant (comparison with Reye's disease). 42 91

A 4-year-old Black child was admitted to hospital in coma and with retinal hemorrhages. He was diagnosed as having Reye's Syndrome and remained hospitalized for 1 month. At discharge, he was neurologically compromised with spasticity of the right arm and leg, and could not walk or sit unsupported. Three weeks later he was again seen in the emergency room with a swollen right arm and leg and was subsequently readmitted. Healing fracture of the right femur and probable healing fracture of the right humerus were diagnosed. These were thought to be due to a fall from a stroller. Almost 4 months later, the child died at his home in the care of his mother's boyfriend. Autopsy findings were consistent with a severely chronically battered child.
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PMID:Battered child syndrome in a four year old with previous diagnosis of Reye's syndrome. 395 91