title: Familial dysautonomia (Riley-Day syndrome).
abstract: Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.
authors.affiliation: Department of Pediatrics, Faculdade de Medicina de Marília (FMM), SP, Brasil.
authors.forename: E R
authors.initials: ER
authors.lastname: Tonholo-Silva
authors.forename: S I
authors.initials: SI
authors.lastname: Takahashi
authors.forename: L
authors.initials: L
authors.lastname: Yoshinaga
mesh_terms: D004299:Dopamine beta-Hydroxylase / Q000097:blood; D004402:Dysautonomia, Familial / Q000150:complications / Q000175:diagnosis / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D011015:Pneumonia, Aspiration / Q000209:etiology
chemical_list: D004299:Dopamine beta-Hydroxylase