High rate of autonomic neuropathy in Cornelia de Lange Syndrome
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Published:2021-10-30
Issue:1
Volume:16
Page:
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ISSN:1750-1172
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Container-title:Orphanet Journal of Rare Diseases
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language:en
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Short-container-title:Orphanet J Rare Dis
Author:
Pablo M. J., Pamplona P., Haddad M., Benavente I., Latorre-Pellicer A., Arnedo M., Trujillano L., Bueno-Lozano G., Kerr L. M., Huisman S. A., Kaiser F. J., Ramos F., Kline A. D., Pie J.ORCID, Puisac B.
Abstract
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.
Funder
Fundación de Investigación Sanitaria Fundación de Enfermedades Raras
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
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1. Espectro Cornelia de Lange;Anales de Pediatría;2024-05 2. Cornelia de Lange Spectrum;Anales de Pediatría (English Edition);2024-05 3. Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome;Journal of Clinical Research in Pediatric Endocrinology;2022-12-08
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