High rate of autonomic neuropathy in Cornelia de Lange Syndrome

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

Resumen: 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.

Idioma: Inglés

DOI: 10.1186/s13023-021-02082-y

Año: 2021

Publicado en: Orphanet Journal of Rare Diseases 16 (2021), 458 [8 pp.]
ISSN: 1750-1172

Factor impacto JCR: 4.302 (2021)

Categ. JCR: MEDICINE, RESEARCH & EXPERIMENTAL rank: 68 / 139 = 0.489 (2021) - Q2 - T2
Categ. JCR: GENETICS & HEREDITY rank: 61 / 175 = 0.349 (2021) - Q2 - T2

Factor impacto CITESCORE: 5.2 - Medicine (Q1)

Factor impacto SCIMAGO: 1.105 - Pharmacology (medical) (Q1) - Medicine (miscellaneous) (Q1)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B32-17R
Financiación: info:eu-repo/grantAgreement/ES/FIS/PI19-01860

Tipo y forma: Artículo (Versión definitiva)

Área (Departamento): Área Fisiología (Dpto. Farmac.Fisiol.y Med.L.F.)
Área (Departamento): Área Pediatría (Dpto. Microb.Ped.Radio.Sal.Pú.)