Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature

Abstract

Th is is a case report cf late onset 'Fay-Sachs disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psy chotic and catatonic state. The obj ective is to emphasize that Toy-Sachs disease can present with psychiatric symptoms, with a variety of phenotypes from infancy to adulthood, and can offec! individuals other than Ashkenazi J ews. Amphiphilic drugs, including phenothiazine and tricyclic antidepressants, may worsen the course of the illness. Resistant catatonia can respond to an extended trial ofhig]: dose lorazepam, CASE REPORT The pati en t is a 14-year-old male of Poli sh a nd Irish d esce nt tra nsfe rred to ou r facility from an other hospital. ChiifComplaint O ver th e past four days, th e pa ti ent beca me less verba l, se clus ive, with poor a ppe t it e a nd d ecr eas ed slee p. H istory qfPresent Ill ness Th e patient a r rived via a m bu la nc e acco m pa n ied by his parents. The parents report ed that he had been in his usu al state of health a nd a tt e nd ing schoo l reg ularly until four days prior to ad m iss ion wh en he had been teased a t school. Wh e n he a rrived home, th e patient was anxiou s a bout returning to sc hool th e next day, wa s ramblin g a nd making suc h bizarre sta te me nts as: " I smo ked a cigare tte, I sto le a pillow, so m eo ne pull ed my pants do wn " and , " T hey a re ou t to ge t me. " The pa t ie nt becam e less and less ve r ba l, more a nxious a nd fidget y, a nd his a ppe t ite diminish ed signifi-ca ntly . H e becam e mut e, seclud ing himself in his roo m . Dr. Sa leh wish es to ack nowled ge his Progra m Director, David J. Lynn , M.D. for his hel p and