Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.

Détails

ID Serval
serval:BIB_29676
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
Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Di Rocco M., Stella G., Bruno C., Doria Lamba L., Bado M., Superti-Furga A.
ISSN
1552-4825
Statut éditorial
Publié
Date de publication
2003
Peer-reviewed
Oui
Volume
118A
Numéro
4
Pages
362-368
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article Publication Status: ppublish
Résumé
Stuve-Wiedemann syndrome (SWS) is a multiple congenital anomalies syndrome mostly considered to have an early lethality. Only few patients have been reported with long survival; therefore, the clinical phenotype with age has not yet been clearly characterized. We report on two patients with SWS aged 12 and 3 years who have both the osteodysplastic symptoms of the entity as well as autonomic nervous system symptoms resembling familial dysautonomia: lack of corneal reflex and neuropathic keratitis, absence of fungiform papillae, ulcerations of the tongue, paradoxical sweating at low temperature, patellar hyporeflexia, and progressive scoliosis. The clinical and radiological similarities between patients with SWS and patients with Schwartz-Jampel syndrome have led to the suggestion that these two syndromes are a single entity. SWS and Schwartz-Jampel syndrome type II are now indeed considered to be identical, but the radiographic phenotype of SWS long survivors such as the presently reported patients justifies the distinction between SWS and the classical type of Schwartz-Jampel syndrome. An increased number of lipid droplets in muscle fibers and decreased muscle mitochondrial enzyme activities have been found in one patient, confirming a previously reported association between SWS and respiratory chain abnormalities.
Mots-clé
Abnormalities, Multiple/radiography, Child, Child, Preschool, Dysautonomia, Familial/radiography, Humans, Muscle, Skeletal/abnormalities, Muscle, Skeletal/enzymology, Osteochondrodysplasias/radiography, Syndrome
Pubmed
Web of science
Création de la notice
19/11/2007 13:27
Dernière modification de la notice
20/08/2019 14:09
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