Clinical and imaging findings useful for early diagnosis of molybdenum cofactor deficiency : a case report of siblings

Abstract

  Molybdenum cofactor deficiency (MoCoD) is caused by neurotoxic substrate accumulation in the brain due to the loss of activation of molybdenum cofactor-dependent enzymes and its symptoms and neuroimaging findings are similar to those of hypoxic-ischemic encephalopathy. The recognition of specific findings in MoCoD, such as no history of hypoxia in the perinatal period, time required for symptoms to stabilize, persistent hypouricemia, positive urinary sulfite, and relatively preserved thalamus and cerebellar atrophy on brain MRI, may facilitate an early diagnosis and treatment. We describe characteristic findings through our experience of siblings with MoCoD.