Molybdenum cofactor deficiency mimics cerebral palsy: differentiating factors for diagnosis

We describe an infant with molybdenum cofactor deficiency, initially diagnosed as cerebral palsy. Clinical features of molybdenum cofactor deficiency, e.g., neonatal seizures, hypertonus/hypotonus, and feeding and respiratory difficulties, resemble those of neonatal hypoxic-ischemic encephalopathy. Our patient, a 2-year-old boy, presented with spastic quadriplegia and mental retardation. He manifested intractable neonatal seizures and diffuse cerebral atrophy. When admitted with bronchitis at age 18 months, his uric acid levels in blood and urine were undetectable. A urinary sulfite test revealed positive results. Further tests revealed elevated urinary levels of xanthine, hypoxanthine, and S-sulfocystein. Sequencing of the MOCS2A gene revealed heterozygosity for c.[265T>C] + [266A>G], diagnosed as molybdenum cofactor deficiency type B. Neonatal seizures, progressive cerebral atrophy, and low serum levels of uric acid may provide diagnostic clues in patients with cerebral palsy of undetermined cause.