RESUMEN
Introduction: Molybdenum cofactor deficiency (MoCD) type A, a rare mitochondrial disorder with characteristic clinical presentation and imaging findings, is one of the forms of molybdenum cofactor deficiency. It presents with seizures, psychomotor delay, and breastfeeding difficulties. Seizures are especially prominent in patients with MoCD. Case presentation: A 3-month-old girl presented with refractory generalized tonic-clonic seizures since the third day of life. Her parents were third-degree relatives. On physical examination, she demonstrated psychomotor delay, breastfeeding difficulties, seizures, doll-like facial features, and other neurological abnormalities. Her brain MRI scan revealed cortical and white matter atrophy of the cerebral hemispheres. Metabolic workup revealed elevated levels of liver enzymes, lactic acid, and ammonia. These results were inconclusive. She received anticonvulsants and vitamin therapy to manage her seizures. Based on a suspicion of mitochondrial disease, genetic analysis was performed, revealing a homozygous variant of uncertain significance in the MOCS1 gene associated with autosomal recessive molybdenum cofactor deficiency type A. Conclusion: MoCD is a rare disease. Early diagnosis should be considered based on the patient's medical history and MRI findings, after excluding other possible diagnoses. The definitive diagnosis relies on genetic testing results.
