Abstract

Here we present a case of molybdenum cofactor defıciency with malnutrition and severe neurologic deficits, a past history of convulsions in neonatal period and a family history of three dead siblings in early neonatal period with identical symptoms but no diagnosis. The patient was diagnosed molybdenum cofactor deficiency upon observation of progressive decline in serum uric acid levels. On the third day of observation, brain magnetic resonance imaging of this patient was normal while it yielded diffuse atrophy and loss of myelinization 18 days later. We would like to emphasize that biochemical assays for serum uric acid concentrations and magnetic resonance imaging must be perfomed periodically in cases of neonatal seizure and hypotonicity of unknown etiology.