High rate of autonomic neuropathy in Cornelia de Lange Syndrome.

ABSTRACT:

Background

Cornelia de Lange Syndrome (CdLS) is a rare congenital disorder characterized by typical facial features, growth failure, limb abnormalities, and gastroesophageal dysfunction that may be caused by mutations in several genes that disrupt gene regulation early in development. Symptoms in individuals with CdLS suggest that the peripheral nervous system (PNS) is involved, yet there is little direct evidence.

Method

Somatic nervous system was evaluated by conventional motor and sensory nerve conduction studies and autonomic nervous system by heart rate variability, sympathetic skin response and sudomotor testing. CdLS Clinical Score and genetic studies were also obtained.

Results

Sympathetic skin response and sudomotor test were pathological in 35% and 34% of th

SUBMITTER: Pablo MJ 

PROVIDER: S-EPMC8556971 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature