title: Homocystinuria presenting as psychosis in an adolescent.
abstract: Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities. Whereas neuropsychiatric abnormalities are often recognized in untreated homocystinuria, initial presentation with acute psychosis has only rarely been reported. We describe a previously well 17-year-old adolescent with an acute psychosis characterized by auditory and visual hallucinations and marked paranoia who was found to have pyridoxine-responsive homocystinuria. His mental state normalized within several weeks of inception of pyridoxine and antipsychotic therapy. Pyridoxine-responsive homocystinuria is commonly missed on neonatal screens and should be recognized as a potentially treatable cause of acute psychosis in childhood and adolescence.
authors.affiliation: Department of Neurology, Children's Hospital Boston, Massachusetts 02115, USA. monique.ryan@tch.harvard.edu
authors.forename: Monique M
authors.initials: MM
authors.lastname: Ryan
authors.forename: Reet K
authors.initials: RK
authors.lastname: Sidhu
authors.forename: Jay
authors.initials: J
authors.lastname: Alexander
authors.forename: J Thomas
authors.initials: JT
authors.lastname: Megerian
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000928:Antidepressive Agents / Q000627:therapeutic use; D014150:Antipsychotic Agents / Q000627:therapeutic use; D003937:Diagnosis, Differential; D006712:Homocystinuria / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D006801:Humans; D008297:Male; D011618:Psychotic Disorders / Q000175:diagnosis* / Q000209:etiology; D011736:Pyridoxine / Q000627:therapeutic use; D016896:Treatment Outcome
chemical_list: D000928:Antidepressive Agents; D014150:Antipsychotic Agents; D011736:Pyridoxine