
doi: 10.5334/jbr-btr.40
pmid: 25073245
Isolated sulfite oxidase deficiency is a rare, autosomal recessive disease with a very poor prognosis. This condition usually presents in the neonatal period and is mainly characterized by neurological abnormalities, including refractory seizures, abnormal muscle tone, abnormal movements, and marked developmental delay. The differentiation from hypoxic-ischemic encephalopathy is difficult based on clinical findings alone. We present a neonatal case
Hypoxanthine, Taurine, Sulfite Oxidase, R895-920, Infant, Newborn, Brain, Electroencephalography, central nervous system, Echoencephalography, Magnetic Resonance Imaging, Xanthine, Diagnosis, Differential, Medical physics. Medical radiology. Nuclear medicine, Rare Diseases, newborn, Humans, Sulfites, Female, Cysteine, Infants, Amino Acid Metabolism, Inborn Errors, Homocysteine
Hypoxanthine, Taurine, Sulfite Oxidase, R895-920, Infant, Newborn, Brain, Electroencephalography, central nervous system, Echoencephalography, Magnetic Resonance Imaging, Xanthine, Diagnosis, Differential, Medical physics. Medical radiology. Nuclear medicine, Rare Diseases, newborn, Humans, Sulfites, Female, Cysteine, Infants, Amino Acid Metabolism, Inborn Errors, Homocysteine
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