Craniosynostosis, osteopetrosis, and Arnold-Chiari malformation type 1 – Ophthalmic manifestations: A rare case report

We report an interesting rare case of a child with a constellation of craniosynostosis (CS), osteopetrosis (OP), and Arnold-Chiari malformation type 1 (ACM1), presenting with developmental delay and progressive vision loss since infancy with normal intellect. The ophthalmic examination revealed bilateral advanced visual loss, bilateral proptosis, optic atrophy, and large angle esotropia in primary gaze. A systemic examination revealed facial dysmorphism, abnormal shape of the head, malunion fracture of the right arm, and scoliosis. Neuroimaging revealed features suggestive of CS, OP, and ACM-1. Neurosurgical consultation was sought, and the ventriculoperitoneal shunt was advised.