Severe Ataxia with Cognitive Impairment in A Young Child: A Case Report of Pontocerebellar Hypoplasia

Authors

Soban Khan, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
Zeeshan Munawar, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
Zaid Waqar, Pakistan Institute of Medical Sciences, Islamabad
Saad Ali, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
Bushra Khalid, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
Amina Sadiqa, Pakistan Institute of Medical Sciences, Islamabad, Pakistan
Mazhar Badshah, Pakistan Institute of Medical Sciences, Islamabad, Pakistan

Document Type

Case Report

Abstract

ABSTRACT

Adolescence is a period of rapid development and a variety of genetic disorders present during this time due to difficulties with motor and cognitive skills. A very rare group of diseases is genetic Pontocerebellar Hypoplasia, characterized by a developmentally small cerebellum that leads to ataxia and movement abnormalities. Here, we present a case of a young boy who presented with ataxia and falls.

Recommended Citation

Khan, Soban; Munawar, Zeeshan; Waqar, Zaid; Ali, Saad; Khalid, Bushra; Sadiqa, Amina; and Badshah, Mazhar (2024) "Severe Ataxia with Cognitive Impairment in A Young Child: A Case Report of Pontocerebellar Hypoplasia," Pakistan Journal of Neurological Sciences (PJNS): Vol. 19: Iss. 1, Article 3.
Available at: https://ecommons.aku.edu/pjns/vol19/iss1/3