title: Long-term survival in Stuve-Wiedemann syndrome: a neuro-myo-skeletal disorder with manifestations of dysautonomia.
abstract: 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.
authors.affiliation: Second Unit of Pediatrics, Istituto G. Gaslini, Genoa, Italy. majadirocco@ospedale-gaslini.ge.it
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: G
authors.initials: G
authors.lastname: Stella
authors.forename: C
authors.initials: C
authors.lastname: Bruno
authors.forename: L
authors.initials: L
authors.lastname: Doria Lamba
authors.forename: M
authors.initials: M
authors.lastname: Bado
authors.forename: A
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D004402:Dysautonomia, Familial / Q000000981:diagnostic imaging; D006801:Humans; D018482:Muscle, Skeletal / Q000002:abnormalities / Q000201:enzymology; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome