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Journal of Child Neurology
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Homocystinuria Presenting as Psychosis in an Adolescent

Monique M. Ryan, MB BS, M Med

Department of Neurology Children's Hospital Boston Boston, Massachusetts, monique.ryan{at}tch.harvard.edu

Reet K. Sidhu, MD

Department of Neurology Children's Hospital Boston Boston, Massachusetts

Jay Alexander, MD

Department of Neurology Children's Hospital Boston Boston, Massachusetts

J. Thomas Megerian, MD, PhD

Department of Neurology Children's Hospital Boston Boston, Massachusetts

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. (J Child Neurol 2002; 17: 859—860).

Journal of Child Neurology, Vol. 17, No. 11, 859-860 (2002)
DOI: 10.1177/08830738020170111707
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