Please use this identifier to cite or link to this item:
Title: Episodic somnolence in an infant with Riley-Day syndrome
Authors: Casella, E. B.
Bousso, A.
Corvello, C. M.
Fruchtengarten, LVG
Diament, A. J.
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Pediat Poison Control Ctr
Issue Date: 1-Apr-2005
Publisher: Elsevier B.V.
Citation: Pediatric Neurology. New York: Elsevier B.V., v. 32, n. 4, p. 273-274, 2005.
Abstract: Familial dysautonomia is an autosomal recessive congenital neuropathy that occurs almost exclusively in the Ashkenazi Jewish population and has rarely been diagnosed in the neonatal period in unaffected families. This report describes a patient who, during the neonatal period, had episodes of marked decrease in the level of consciousness with durations of 4-15 hours. Other signs and symptoms included the absence of fungiform papillae of the tongue, areflexia, and failure to thrive. the diagnosis was confirmed by the demonstration of mutations in the IkappaB kinase complex-associated protein gene with the identification of IVS20 (+6T -> C) which is responsible for more than 99.5% of known Ashkenazi Jewish patients with familial dysautonomia. the prognosis of this disease and the possibility of genetic counseling are clearly related with an early definitive diagnosis, and this patient illustrates the importance of episodes of somnolence as a possible sign of familial dysautonomia. (c) 2005 by Elsevier Inc. All rights reserved.
ISSN: 0887-8994
Other Identifiers:
Appears in Collections:Em verificação - Geral

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.