Branching enzyme deficiency: expanding the clinical spectrum.

ABSTRACT:

Importance

The neuromuscular presentation of glycogen branching enzyme deficiency includes a severe infantile form and a late-onset variant known as adult polyglucosan body disease. Herein, we describe 2 patients with adult acute onset of fluctuating neurological signs and brain magnetic resonance imaging lesions simulating multiple sclerosis. A better definition of this new clinical entity is needed to facilitate diagnosis.

Objectives

To describe the clinical presentation and progression of a new intermediate variant of glycogen branching enzyme deficiency and to discuss genotype-phenotype correlations.

Design, setting, and participants

Clinical, biochemical, morphological, and molecular study of 2 patients followed up for 6 years and 8 years at academic medical cent

SUBMITTER: Paradas C 

PROVIDER: S-EPMC6148323 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature