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Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989
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Article Abstract
Sulfite oxidase deficiency is characterized by severe neurologic dysfunction,dislocation of the lenses,and the accumulation and excretion of inorganic sulfite,thiosulfate,and S-sulfocysteine.We present the clinical,radiologic,and biochemical findings in two patients with this condition.In both,neurologic problems started soon after birth and progressed rapidly to profound mental retardation,microcephaly,blindness, and spastic quadriparesis.Seizures were a persistent problem throughout the course of their illness.The neurologic abnormalities were associated with progressive destruction of brain tissue.We established the diagnosis of sulfite oxidase deficiency by demonstrating the characteristic abnormal metabolites in urine.However,commonly used screening procedures do not detect these compounds,and dislocation of the lenses is usually a late feature of the disease.As a result,the diagnosis may be easily overlooked, especially during infancy.Specific investigations for sulfite oxidase deficiency are indicated for any baby with severe,progressive neurologic disease.
 
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blindness
calcification,intracranial
CAT scan
CAT scan,abnormal
cerebral cortical atrophy
hydrocephalus
inborn errors of metabolism
intellectual deterioration
lens,dislocation of
mental retardation
microcephaly
quadriparesis
seizure
spasticity
sulfite oxidase deficiency

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