High rate of autonomic neuropathy in Cornelia de Lange Syndrome

M J Pablo,S A Huisman,P Pamplona,A Latorre-Pellicer,L M Kerr,A D Kline,B Puisac,M Haddad,M Arnedo,J Pie,F J Kaiser,I Benavente,G Bueno-Lozano,L Trujillano,F Ramos

doi:10.1186/s13023-021-02082-y

Abstract

BackgroundCornelia 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.MethodSomatic 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.ResultsSympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies.ConclusionsAutonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

Highlights

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
Sympathetic skin response and sudomotor test were pathological in 35% and 34% of the individuals with CdLS, respectively
Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging

Summary

Introduction

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. Cornelia de Lange Syndrome (CdLS) is a genetic disease due to spontaneous mutations in genes of the cohesin protein complex, mainly NIPBL, in 70% of the cases [1,2,3,4] and SMC1A, SMC3, RAD21, BRD4, HDAC8, ANKRD11 and MAU2 [5,6,7,8,9]. The syndrome is characterized by typical facial features, growth failure, limb abnormalities and the involvement of many organs and systems including the central nervous system.

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