The Riley-Day syndrome. Familial dysautonomy, central autonomic dysfunction.
The Riley-Day syndrome is characterized by a dysfunction of the autonomous nervous system, sensory disturbances, neurological disorders, psychical anomalies and important ophthalmological symptoms, such as absence of tears, corneal anaesthesia, keratinized conjunctiva and cornea; myosis after instillation of methacholine. The diagnosis is based on the absence of fungiform papillae of the tongue and the absence of reaction after intradermic injection of histamine. The inheritance is autosomal recessive. The disease results probably from an enzymatic insufficiency.
D002675:Child, Preschool; D003937:Diagnosis, Differential; D004402:Dysautonomia, Familial / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D004576:Electromyography; D005132:Eye Manifestations; D005260:Female; D006632:Histamine; D006801:Humans; D008607:Intellectual Disability; D007765:Lacrimal Apparatus / Q000473:pathology; D009460:Neurologic Examination; D009461:Neurologic Manifestations; D009887:Ophthalmoscopy; D011379:Prognosis; D011596:Psychomotor Disorders
D006632:Histamine