Molybdenum Cofactor Deficiency

Abstract

The article provides information about an infant who diagnosed with molybdenum cofactor deficiency based on genetic analysis (homozygous mutation in the MOCS 1 gene). The disease observed as refractory convulsions in the early neonatal period, followed by dysmorphic features, severe psychomotor retardation, hospitalization due to recurrent respiratory tract infection, corpus callosum hypoplasia and presence of mega cisterna magna on neuroimaging. A rare disease with a fatal outcome can be easily missed or masked by hypoxic-ischemic encephalopathy. Adequate awareness of neonatologists and pediatricians about this pathology will allow, due to timely genetic examination and determination of the probability of the birth of a subsequent child in a family with this pathology, planning a pregnancy to prevent the development of this disease.