Opsoclonus-mioclonus-ataxia syndrome as first clinical presentation of MECP2 mutation: a case report

Case presentation: A one year seven months old female that was hospitalized in our tertiary reference service with a history of fever, tremor, trunk and gait instability, vomit irritability for 20 days. At day four hospital, she evolved myoclonia eye movements got worst by seven, pointing the diagnosis opsoclonus-myoclonus-ataxia syndrome (OMAS). Patient born prematurely at 32 weeks, had motor speech delay. corrected age five months, could walk support limited monosyllabic vocabulary. She did not have any hand shaking, other stereotypes or seizures. Her head circumference normal. After presented neurodevelopmental regression important instability until loss. The patient extensively investigated tumoral, serology, inflammatory autoimmune markers, electroencephalogram, metabolic screening neuroimaging. All tests without suggestive abnormalities specific underlying pathology. We’ve collected genetic test - panel, evidencing pathogenic MECP2 heterozygous mutation.