Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.

ABSTRACT:

Introduction

The standard of care for patients with infantile-onset Pompe disease (IOPD) is enzyme replacement therapy (ERT), which does not cross the blood brain barrier. While neuromuscular manifestations of IOPD are well-described, central nervous system (CNS) manifestations of this disorder are far less characterized. Here we describe severe CNS-related neurological manifestations including seizures and encephalopathy in six individuals with IOPD.

Method

We identified six children with IOPD who developed CNS manifestations such as seizures and/or encephalopathy. We studied their brain magnetic resonance imaging scans (MRIs) and graded the severity of white matter hyperintensities (WMHI) using the Fazekas scale scoring system as previously published. Longitudinal cognitiv

SUBMITTER: Kenney-Jung D 

PROVIDER: S-EPMC11080415 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature