title: Clinical and imaging observations in isolated sulfite oxidase deficiency.
abstract: Isolated sulfite oxidase deficiency is a rare neurometabolic disorder that closely mimics hypoxic ischemic encephalopathy both clinically and radiologically. Phenotypic and imaging observations in 2 children (aged 14 months and 8 years) with this disease are described. Both had profound mental retardation, microcephaly, spastic quadriparesis, and uncontrolled seizures from the neonatal period. Diagnosis was established by demonstrating the presence of sulfites in urine and genetic analysis. Magnetic resonance imaging of the brain revealed severe cystic leukomalacia, cortical atrophy with ulegyric pattern, and cerebellar hypoplasia that progressed over time in both the patients. Early diagnosis of this devastating disorder will provide an opportunity for genetic counseling and prenatal testing.
authors.affiliation: Department of Neurology, National Institute of Mental Health & Neurosciences (NIMHANS), Bangalore, India. drpsbindu@yahoo.co.in
authors.forename: Parayil Sankaran
authors.initials: PS
authors.lastname: Bindu
authors.forename: Rita
authors.initials: R
authors.lastname: Christopher
authors.forename: Anita
authors.initials: A
authors.lastname: Mahadevan
authors.forename: Rose Dawn
authors.initials: RD
authors.lastname: Bharath
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000473:pathology / Q000652:urine; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology*; D002648:Child; D042241:Early Diagnosis; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D050876:Sulfite Oxidase / Q000172:deficiency / Q000652:urine; D013447:Sulfites / Q000652:urine*
chemical_list: D013447:Sulfites; D050876:Sulfite Oxidase