title: Episodic somnolence in an infant with Riley-Day syndrome.
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.
authors.affiliation: Pediatric Neurology Unit, University of São Paulo, São Paulo, Brazil.
authors.forename: Erasmo B
authors.initials: EB
authors.lastname: Casella
authors.forename: Albert
authors.initials: A
authors.lastname: Bousso
authors.forename: Cassandra M
authors.initials: CM
authors.lastname: Corvello
authors.forename: Ligia V G
authors.initials: LV
authors.lastname: Fruchtengarten
authors.forename: Aron J
authors.initials: AJ
authors.lastname: Diament
mesh_terms: D006970:Disorders of Excessive Somnolence / Q000175:diagnosis* / Q000209:etiology*; D004402:Dysautonomia, Familial / Q000150:complications* / Q000175:diagnosis*; D005334:Fever / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D006945:Hyperhidrosis / Q000175:diagnosis / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000209:etiology