Child with Developmental Delay and Pathological Myopia: Poretti–Boltshauser Syndrome

Authors

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

Document Type

Case Report

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.

Recommended Citation

Mehmood, Arshad; Alvi, Javeria Raza; Bilal, Ahmad; Qureshi, Sameen; Ali, Shaila; and Sultan, Tipu (2023) "Child with Developmental Delay and Pathological Myopia: Poretti–Boltshauser Syndrome," Pakistan Journal of Neurological Sciences (PJNS): Vol. 18: Iss. 4, Article 5.
Available at: https://ecommons.aku.edu/pjns/vol18/iss4/5