P.230 Treatment-resistant psychotic symptoms in non-syndromic intellectual disability involving an interstitial deletion of 20q13.13

Abstract

Adult onset Niemann- Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder that presents with heterogenous neuropsychiatric symptoms. Because of the variation of presentations, the diagnosis is often delayed or overlooked. Another treatment challenge is that currently there is only one FDA approved treatment, Miglustat, a reversible glycosphingolipid synthesis inhibitor, and it takes up to six months for therapeutic effect.We present a case report of a 27 year-old woman who was admitted to a medical hospital for inpatient work-up of altered mental status. Her initial symptoms were mild impairments in attention, bradykinesia, and ataxia that eventually progressed to an episode of acute encephalopathy with psychosis and catatonia. She underwent a comprehensive neurologic and medical work-up which was non-revealing, and then had genetic testing which revealed NPC. She was trialed on multiple medications in an attempt to manage her neuropsychiatric symptoms with minimal benefit. The decision was made to proceed with electroconvulsive therapy (ECT) with marked improvement in her symptoms after just one treatment, and continued response throughout all 18 treatments she has received thus far. While the patient has had relapses in her encephalopathic symptoms during the course of ECT treatments, additional ECT treatments following have been the most effective in returning her to her new baseline and allowing her to remain functional during this time.