PSYCHOSIS AS A PRESENTATION OF PHYSICAL DISEASE IN ADOLESCENCE - A CASE OF NIEMANN-PICK-DISEASE, TYPE-C

This study reports the case of a 16-year-old male who presented with a history of prominent psychotic symptoms and paranoid delusions which overshadowed subtle signs and symptoms of cognitive and motor dysfunct ion. Intensive neurobehavioral and biochemical investigations eventual ly led to the diagnosis of Niemann-Pick disease, type C (NPC), an auto somal recessively inherited storage disease that is associated with th e accumulation of cholesterol in lysosomes and difficulties in the pro cessing of exogenously derived cholesterol. Glues to the presence of a neurological disorder included: a history of insidiously declining ac ademic and athletic performance which antedated the onset of psychosis ; abnormalities on mental status examination, including psychomotor sl owing, memory difficulties, and impairment of higher attentional funct ions; physical findings of subtle downgaze impairment, mild symmetrica l hyperreflexia, and lower-extremity hypertonia with flexor plantar re sponses, marked impairment of upper-extremity rapid alternating moveme nts, action tremor, and bilateral posturing with stress gait maneuvers . This case demonstrates the importance of careful and persistent neur odiagnostic evaluation in adolescents with psychotic presentations, pa rticularly when cognitive and motor deterioration is suspected, and ev en when head CT and MRI scans are judged to be normal.