Neurologic involvement in patients with atypical Chediak-Higashi disease.

ABSTRACT:

Objective

To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study.

Methods

Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation.

Results

In 9 mildly affected patients with CHD, we documented learning and behavioral difficulties along with developmental structural abnormalities of the cerebellum and posterior fossa, which are

SUBMITTER: Introne WJ 

PROVIDER: S-EPMC5584077 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature