Document Type

Case Report


ABSTRACT: Molybdenum cofactor deficiency is a rare degenerative brain disorder with autosomal recessive inheritance. It presents early in neonatal life with seizures, feeding difficulty and spasticity, sometimes misdiagnosed as neonatal hypoxic ischemic encephalopathy. Neuroimaging findings are consistent with loss of white matter and volume along with cystic encephalomalacic changes. Most of the patients have mutations in the MOCS1 and MOCS2 genes causing imbalance in the sulfur-containing amino acid metabolism leading to progressive neurological damage and early childhood death in majority of cases. We report a case of a 7 months old child, product of non-consanguineous marriage with history of neonatal seizures and global developmental delay. Examination showed facial dysmorphism and spasticity with neuroimaging showing marked cortical atrophy and agenesis of corpus callosum.

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