Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature

Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually presents in early infancy with seizures and alterations in muscle tone. Only 21 cases have been reported in the literature. We report a case of a newborn infant boy with isolated sulfite oxidase deficiency...

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Veröffentlicht in:Pediatrics (Evanston) 2005-09, Vol.116 (3), p.757-766
Hauptverfasser: Tan, Wen-Hann, Eichler, Florian S, Hoda, Sadaf, Lee, Melissa S, Baris, Hagit, Hanley, Catherine A, Grant, P. Ellen, Krishnamoorthy, Kalpathy S, Shih, Vivian E
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container_title Pediatrics (Evanston)
container_volume 116
creator Tan, Wen-Hann
Eichler, Florian S
Hoda, Sadaf
Lee, Melissa S
Baris, Hagit
Hanley, Catherine A
Grant, P. Ellen
Krishnamoorthy, Kalpathy S
Shih, Vivian E
description Isolated sulfite oxidase deficiency is a rare but devastating neurologic disease that usually presents in early infancy with seizures and alterations in muscle tone. Only 21 cases have been reported in the literature. We report a case of a newborn infant boy with isolated sulfite oxidase deficiency who presented with generalized seizures on his fourth day of life. Plasma total homocysteine was not detectable. Urinary sulfite, thiosulfate, and S-sulfocysteine levels were elevated. The patient began a low-methionine and low-cysteine diet and was treated with thiamine and dextromethorphan. However, he became increasingly microcephalic and was severely developmentally delayed. Mutation analysis of the sulfite oxidase gene revealed that the patient was homozygous for a novel 4-base pair deletion, and both of his parents were found to be heterozygous carriers of the same deletion. We reviewed the clinical, biochemical, neuroradiologic, and neuropathologic features in all published cases of isolated sulfite oxidase deficiency. Seizures or abnormal movements were prominent features in all cases. Developmental delays were reported in 17 cases. Ectopia lentis was detected in 9 cases. Clinical improvement with dietary therapy was seen in only 2 patients, both of whom presented after the age of 6 months and had relatively mild developmental delays. Plasma or urinary S-sulfocysteine levels were elevated in all cases. Urinary sulfite was detected in all except 1 case. Cerebral atrophy and cystic encephalomalacia were observed with neuroradiologic imaging and were noted in all 3 postmortem reports of isolated sulfite oxidase deficiency. The main alternative in the differential diagnosis of isolated sulfite oxidase deficiency is molybdenum cofactor deficiency.
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subjects Amino Acid Metabolism, Inborn Errors - diagnosis
Amino Acid Metabolism, Inborn Errors - metabolism
Babies
Base Pairing
Biological and medical sciences
Brain Diseases, Metabolic, Inborn - diagnosis
Brain Diseases, Metabolic, Inborn - metabolism
Case studies
Child development
Cysteine - metabolism
Electroencephalographs
General aspects
Genes
Health aspects
Humans
Infant
Infant, Newborn
Male
Medical sciences
Metabolism
Methionine - metabolism
Mutation
Neurological disorders
Pediatrics
Pregnancy complications
Pregnancy, Complications of
Sequence Deletion
Sulfite Oxidase - deficiency
Sulfite Oxidase - genetics
title Isolated Sulfite Oxidase Deficiency: A Case Report With a Novel Mutation and Review of the Literature
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