APERT SYNDROME - CRANIECTOMY BETTER LATE THAN NEVER

Apert syndrome is a form of acrocephalosyndactyly. It is a rare congenital disorder with autosomal dominant mode of inheritance and a prevalence of approximately 1 in 65000 newborns, characterized by craniosynostosis, midface hypoplasia and bilateral symmetrical syndactyly of the hands and feet. Associated central nervous system abnormalities include malformations of the corpus callosum, megalencephaly, hypoplasia of cerebral white matter. As a result of craniosynostosis, child can develop features of raised ICP. Early identification and surgical correction of various physical anomalies forms the cornerstone of management. Here we present one such case of a 4 year old boy with the classical clinical findings of Apert syndrome along with visual disturbances and delayed developmental milestones. Radiological investigations revealed features of raised ICP. Child was managed with coronal craniectomy and post-operatively child's facial aesthetics has improved with no further progression of optic atrophy. This case has been presented here for its rarity and typical presentation and to highlight the neurosurgical intervention performed which has enhanced the quality of life in this child.