Molybdenum Cofactor Deficiency with Cerebral Atrophy

Case presentation: Full term newborn, Apgar 9/9, with no family history of neurological diseases, developed breathing and feeding difficulties, reason why was admitted at the hospital on her 7th life day. On examination, presented craniofacial dysmorphic features, anisocoria reactive to light, absence blink reflex, divergent strabismus discreet skew deviation, hypertonia limbs clonic movements, rough skin diffuse maculopapular lesions, furfuraceous scaling. The patient hospitalized stabilized in UCI, needing OTI. In first investigation, infectious triage cerebral USG were normal. MRI 9th day evidenced edema, bilateral injury thalamus a high lactate spectroscopy. progressed seizures crisis difficult control, due that, hypoproteic diet initiated, good response. treatable diseases panel showed variants that isolated would justify clinical picture. A complete sequencing genome revealed variant c.377+1G>A, p.(?) intronic region succeeds exon 5 MOCS2 gene, homozygous, diagnosing molybdenum cofactor deficiency B. month plenty areas cystic degeneration, important volumetric encephalic reduction N-acetylaspartate peak. Nowadays she's home, being treated Phenobarbital, Levetiracetam, Oxcarbazepine, L-carnitine, Pyridoxine Clonazepam.