Molybdenum cofactor deficiency (MOCS2): A rare case report delineating as severe neonatal presentation as hypoxic-ischemic encephalopathy due to Molybdenum cofactor deficiency / isolated sulfite oxidase deficiency. Molybdenum cofactor deficiency (MOCS2): A rare case report delineating as severe neonatal presentation as hypoxic-ischemic encephalopathy due to Molybdenum cofactor deficiency / isolated sulfite oxidase deficiency. Section Case Study

Abstract

INTRODUCTION:We report a infants with the diagnosis of molybdenum cofactor deficiency. The key findings leading to diagnosis were intractable neonatal seizures unresponsive to treatment, craniofacial dysmorphic features, hypotona,low blood uric acid levels, and neuroimaging findings. The parents were consanguineous in this case report . The diagnosis was established by the presence of low blood uric acid levels and detection of urinary cloride. Magnetic resonance imaging findings were suggestive of encephalomalacia with cystic changes with multiple white matter hemorrhage due to hypoxic-ischemic encephalopathy. We conclude that molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with intractable seizures, unexplained vomiting with hypotonia in the newborn period who have computed tomography and magnetic resonance imaging findings reminiscent of those of hypoxic-ischemic encephalopathy, and the urine sulfite dipstick test can be a part of the evaluation of these infants in neonatal intensive care units.

BACKGROUND: 24 day old female child with severe distress, seizure in altred consciousness presented to ER and was intubated, primary treatment give .Status was managed per protocol(ILAE), and classified to be SE. Child was sedated, ventilated and investigated for same. Blood chemistries and counts were non specific for infection,electrolyte and metabolic disturbances at ER.Blood investigation for ABG was reported abnormal and corrected accordingly.work up for ammonia was normal.child remained encephalopathic hence study proceed with neuroimaging.USG skull normal .MRI s/o Cystic encephalomalacia with In subcortical white matter in frontparietal and temporal Lobes with bilateral Subdural collection,Punctate white matter hemorrhage In bilateral periventricular White matter.This findings given in clinical settings given rise to a suspecion of molybdenum cofactor deficiency (MOCD)/isolated sulfite oxidase Deficiency . Further findings were confirmed by DNA report study of whole exom suggestive for MOCS2 gene mutation positive.

Conclusions: Molybdenum cofactor deficiency is a severe autosomal-recessive disorder with a devastating outcome.This disorder is caused almost exclusively by mutations in the MOCS1 or MOCS2 genes. Mutations affecting this biosynthetic pathway result in a lethal phenotype manifested by progressive neurological damage via the inactivation of the molybdenum cofactor-dependent enzyme, sulfite oxidase. IEM is individually rare but collectively common, Though IEM is criteria for exclusion but as clinicians we should keep investigating as MOCD is rare but having grave prognosis once diagnosed.Molecular diagnosis and genetic counseling, Parental counselling for future pregnancy is essential.Algorhytmic aprroach will help to clinch the diagnosis.