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. 2021 Oct 30;16(1):458.
doi: 10.1186/s13023-021-02082-y.

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

M J Pablo  1   2 , P Pamplona  1   3 , M Haddad  1   3 , I Benavente  2 , A Latorre-Pellicer  1 , M Arnedo  1 , L Trujillano  1   4 , G Bueno-Lozano  1   5 , L M Kerr  6 , S A Huisman  7   8 , F J Kaiser  9 , F Ramos  1   4 , A D Kline  10 , J Pie  11 , B Puisac  12
Affiliations

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

M J Pablo et al. Orphanet J Rare Dis. .

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 the individuals with CdLS, respectively. Nevertheless, normal values in large fiber nerve function studies.

Conclusions: Autonomic nervous system (ANS) dysfunction is found in many individuals with Cornelia de Lange Syndrome, and could be related to premature aging.

Keywords: Autonomic neuropathy; CdLS; Cornelia de Lange Syndrome; NIPBL gene; Peripheral neuropathy; Small fiber nerve; Sudomotor test; Sweat gland density.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Sympathetic Skin response in upper and lower limbs. A Normal symmetrical sympathetic skin response (SSR) in upper limbs in individual -30- after electrical stimulus in left hand, recorded simultaneously in both hands. Upper curves refer to the left hand, lower curves refer to the right hand. B Pathological asymmetrical in amplitude and morphology SSR in upper limbs in individual -23- after electrical stimulus in right hand, recorded simultaneously in both hands. Upper curves refer to the left hand, lower curves refer to the right hand. C Normal symmetrical normal SSR in lower limbs in individual -30- after electrical stimulus in left foot, recorded simultaneously in both feet. Upper curves refer to the left foot, lower curves refer to the right foot. D Pathological symmetrical in amplitude SSR in lower limbs in individual -40- after electrical stimulus in right foot, recorded simultaneously in both feet. Upper curves refer to the left foot, lower curves refer to the right foot
Fig. 2
Fig. 2
Analysis of SGD. (SGD: sweat gland density: gland number/cm2): each dot corresponds to a different individual at the indicated age. Filled dots are CdLS individuals (n = 47) and empty dots correspond to control individuals (n = 50). Lines show mean linear fit and 95% confidence intervals (shadowed areas). Significant non-zero slope, linear regression, *p-value < 0.05, **p-value < 0.01
See this image and copyright information in PMC

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