1. Sequential Presentation of Obsessive-Compulsive Disorder and Narcolepsy in a 10-Year-Old Girl With Wolfram Syndrome 1.
- Author
-
Ravindren RK, Veettil RT, Athimannil S, Balaram N, Veedu PT, Veetil SA, Ayoor AK, Mathew S, Padinharath K, and Balan S
- Subjects
- Humans, Female, Child, Membrane Proteins genetics, Wolfram Syndrome diagnosis, Wolfram Syndrome genetics, Wolfram Syndrome physiopathology, Wolfram Syndrome complications, Narcolepsy diagnosis, Narcolepsy physiopathology, Narcolepsy drug therapy, Obsessive-Compulsive Disorder diagnosis, Obsessive-Compulsive Disorder physiopathology
- Abstract
Abstract: Wolfram syndrome 1 (WS1) is a rare, autosomal recessive neurodegenerative disorder characterized by diabetes insipidus, insulin-dependent diabetes mellitus, optic atrophy, and deafness resulting from loss-of-function genetic variants in the WFS1 gene. Individuals with WS1 manifest a spectrum of neuropsychiatric disorders. Here, we report a pediatric case of WS1, which stemmed from a novel biallelic WFS1 loss-of-function genetic variant. The individual initially presented with obsessive-compulsive disorder, which was successfully managed by fluvoxamine. After 2 months, the child manifested excessive daytime sleepiness. Clinical evaluation and sleep recordings revealed a diagnosis of narcolepsy type 2. Excessive daytime sleepiness was improved with methylphenidate. To the best of our knowledge, this is the first report of narcolepsy in WS1, which possibly arose during a progressive neurodegenerative process. We emphasize the need for in-depth screening for neuropsychiatric phenotypes and sleep-related disorders in WS1, for clinical management, which significantly improves the quality of life., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)
- Published
- 2024
- Full Text
- View/download PDF