Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Détails
ID Serval
serval:BIB_40E5D9C7B398
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Evaluation of neurodevelopmental symptoms in 10 cases of neonatal ichthyosis and sclerosing cholangitis syndrome.
Périodique
Pediatric dermatology
ISSN
1525-1470 (Electronic)
ISSN-L
0736-8046
Statut éditorial
Publié
Date de publication
07/2022
Peer-reviewed
Oui
Volume
39
Numéro
4
Pages
590-593
Langue
anglais
Notes
Publication types: Case Reports
Publication Status: ppublish
Publication Status: ppublish
Résumé
Neonatal ichthyosis and sclerosing cholangitis (NISCH) syndrome is an extremely rare entity with only 19 patients described in the literature. We report an extended family with the disorder and investigate the association of neurodevelopmental symptoms. Patients with CLDN1 mutations, and specifically « the Moroccan» c.200_201delTT deletion, may be an increased risk for neurodevelopmental symptoms such as learning disabilities, mental retardation, and language delay.
Mots-clé
Alopecia, Cholangitis, Sclerosing/complications, Cholangitis, Sclerosing/diagnosis, Cholangitis, Sclerosing/genetics, Claudin-1/deficiency, Claudin-1/genetics, Humans, Ichthyosis/complications, Ichthyosis/diagnosis, Ichthyosis/genetics, Ichthyosis, Lamellar/complications, Infant, Newborn, Leukocyte Disorders/complications, Leukocyte Disorders/genetics, Syndrome, CLDN1, NISCH syndrome, ichthyosis, neurodevelopmental, sclerosing cholangitis
Pubmed
Web of science
Création de la notice
31/03/2022 20:03
Dernière modification de la notice
25/02/2023 6:46
Données d'usage
