Molybdenum Cofactor Deficiency Mimicking Hypoxic Ischemic Encephalopathy
Ananya Udayachandra Shetty*, Vijay Keshavarao Kulkarni, Shriharsha Badiger, Satish Tadakanahalli
Abstract
Molybdenum cofactor deficiency (MoCD) is a rare autosomal recessive condition that can lead to fatal disease due to severe neurologic injury. As MoCD closely mimics hypoxic ischemic encephalopathy (perinatal asphyxia), its diagnosis can be complicated. Also, as this condition can recur in subsequent pregnancies, there is a need for accurate diagnosis to provide genetic counseling and to initiate timely prenatal diagnosis. Here we report the case of a neonate who presented with refractory seizures and encephalopathy and whose biochemical tests were suggestive of MoCD.
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