Abstract
INTRODUCTION: The syndrome related to a mutation in the N-alpha-acetyltransferase 10 (NAA10) gene, an X-linked recessive disorder, Ogden Syndrome, presents in boys with severe developmental delay, central hypotonia, dysmorphic features, cardiac malformations, and early death in the first months of life. CASE REPORT: Male infant with hypotonia and craniofacial dysmorphisms: prominent forehead, triangular facies, bilateral microphthalmia, superior oblique palpebral fissure and epicanthus, increased nasolabial filter, tapered upper lip, sparse blond hair, long and light eyelashes. Delay in neuropsychomotor development, brief episodes of oromasticatory movements, sialorrhea, horizontal nystagmus, excessive sleepiness, and hypo-responsiveness, with oxygen saturation drop and bradycardia. Electroencephalogram: bursts of diffuse slow waves. Echocardiogram and electrocardiogram without alterations. Cranial resonance: cortical thickening in the right frontal lobe, small encephalomalacic area; signs of previous ischemic insult in the territory of the right posterior cerebral artery; areas of signal alteration in the central and deep white matter adjacent to the lateral ventricles with mild compensatory dilation of the same; and diffuse thinning of the corpus callosum of undetermined nature, treatment initiated. Genome identified a likely pathogenic variant in the NAA10 gene. Under treatment with phenobarbital and oxcarbazepine, and multiprofessional follow-up. DISCUSSION/CONCLUSION: Many patients present neuroimaging alterations, mainly: corpus callosum hypoplasia and microcephaly. Epilepsy around 69%, generalized, described eyelid myoclonias or spasms, or as identified in this patient: oromasticatory automatism. There is a need to include Ogden Syndrome in differential diagnoses and investigate the NAA10 gene in epilepsy and intellectual disability panels, even without multisystemic manifestations.