Inherited metabolic disease presenting as a psychiatric disorder
Abstract
A 25-year-old man with autism was admitted for suspected psychosis. He had jaundice, abnormal liver tests, splenomegaly, and progressive cognitive decline with vertical gaze palsy. Antipsychotics and ECT were ineffective. Family history (sister with cognitive problems and splenomegaly) prompted genetic testing, revealing two pathogenic NPC1 variants, confirming Niemann-Pick type C. This case highlights a rare adult-onset psychiatric NPC and the importance of early multidisciplinary assessment and relative involvement.
Fields of Study & Subjects
Lysosomal Storage Disorders Research
Metabolism and Genetic Disorders
Glycogen Storage Diseases and Myoclonus
Publication details
- Journal / source
- Ugeskrift for Læger
- Volume
- 188
- Issue
- 11
- Pages
- 1–3
- Publication date
- 9 March 2026
- Language
- DA