Teaching NeuroImages: EARLY IMAGING OF SULFITE OXIDASE DEFICIENCY MIMICS SEVERE HYPOXIC ISCHEMIC ENCEPHALOPATHY.

A term baby, with uncomplicated pregnancy and delivery, developed intractable multifocal seizures on day 3 of life. EEG showed frequent multifocal electrographic and electroclinical seizures. MRI brain demonstrated diffuse diffusion restriction (figure). Metabolic investigations revealed elevated urine sulfocysteine, reduced plasma cysteine and homocysteine, and normal plasma uric acid. CSF lactate was elevated. The diagnosis was consistent with isolated sulfite oxidase deficiency, with normal plasma uric acid differentiating this from molybdenum cofactor deficiency. The patient underwent confirmatory genetic testing. Sulfite oxidase deficiency is an autosomal recessive inherited inborn error of metabolism without treatment.1,2 Initially, it may mimic profound hypoxic ischemic encephalopathy.