Severe ataxia with cognitive impairment in a young child:  a case report of Pontocerebellar Hypoplasia

Soban Khan; Zeeshan Munawar; Zaid Waqar; Saad Ali; Bushra Khalid; Amina Sadiqa; Mazhar Badshah

doi:10.56310/pjns.v19i01.256

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

DOI: https://doi.org/10.56310/pjns.v19i01.256

Keywords: ataxia, falls, cognitive impairment, autosomal recessive, Pontocerebellar ataxia

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.