Child with developmental delay and pathological myopia: Poretti–Boltshauser syndrome

Abstract

Poretti–Boltshauser syndrome is rare genetic disorder of brain malformation with ocular findings due to mutation in LAMA1 gene. We report a case of five years old girl who presented with high myopia, delayed language and motor development with otherwise normal neurological examination. Brain imaging findings were consistent of Poretti–Boltshauser syndrome with cerebellar dysplasia and cyst (CDC). However, cerebellar ataxia and retinopathy were not found in our index case.