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

Arshad Mehmood; javeria Raza Alvi; Ahmad Bilal; Sameen Qureshi; Shaila Ali; Tipu Sultan

doi:10.56310/pjns.v18i04.302

Arshad Mehmood Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore.
javeria Raza Alvi Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore.
Ahmad Bilal Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore.
Sameen Qureshi Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore.
Shaila Ali Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore.
Tipu Sultan Department of Pediatric Neurology, The Children’s Hospital & University of Child Health Sciences, Lahore.

DOI: https://doi.org/10.56310/pjns.v18i04.302

Keywords: Cerebellar malformation, Develpmental delay, High myopia

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.