RESUMO
BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a rare autosomal recessively inherited inborn error of metabolism, caused by mutation in SUOX gene. ISOD has two kind of presentation; early and late-onset. The late-onset form is extremely rare and only 10 cases have been reported. METHODS: We report two new cases of late-onset ISOD with biochemical and genetic confirmation. We did a review of the previously published cases of late-onset ISOD. RESULTS: Together with the presented two cases, 12 cases were available for analysis. The median age at symptom onset and at diagnosis was 8.5 and 23 months respectively. Almost all children had acute regression of milestones followed by slow recovery. The common presenting signs and symptoms were movement disorders, seizures, ectopia lentis and hypertonia. Five children had antecedent events. Trivial trauma precipitating the metabolic crisis was unique to the two cases we report. The most common MRI feature was globus pallidi changes followed by cerebellar white matter changes, vermian hypoplasia and thinned out corpus callosum. Diffusion weighted sequence was performed in 3 children and all had diffusion restriction in the affected area. CONCLUSION: Trivial trauma can precipitate metabolic crisis in late-onset ISOD. Low plasma homocysteine and involvement of globus pallidi with diffusion restriction on the MRI are important diagnostic clues. Early diagnosis and intervention with special diet may be effective in preventing long term neurodisability.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/etiologia , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Traumatismos Craniocerebrais/complicações , Sulfito Oxidase/deficiência , Criança , Pré-Escolar , Traumatismos Craniocerebrais/metabolismo , Feminino , Globo Pálido/patologia , Homocisteína/metabolismo , Humanos , Lactente , Imageamento por Ressonância Magnética/métodos , Masculino , Erros Inatos do Metabolismo dos Metais/metabolismo , Convulsões/etiologia , Sulfito Oxidase/metabolismoRESUMO
A three-months boy presented with recurrent seizures. On examination, he was fair, had dilated scalp veins, sparse hypopigmented hair, and was hypotonic. X-ray of the skull showed wormian bones. The child was diagnosed with Menkes disease. The manuscript aims to emphasize dilated scalp veins in diagnosis of Menkes disease.