Sequential Presentation of Obsessive-Compulsive Disorder and Narcolepsy in a 10-Year-Old Girl With Wolfram Syndrome 1.
Journal
The Journal of nervous and mental disease
ISSN: 1539-736X
Titre abrégé: J Nerv Ment Dis
Pays: United States
ID NLM: 0375402
Informations de publication
Date de publication:
01 Jul 2024
01 Jul 2024
Historique:
medline:
1
7
2024
pubmed:
1
7
2024
entrez:
1
7
2024
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 38949661
doi: 10.1097/NMD.0000000000001784
pii: 00005053-202407000-00008
doi:
Substances chimiques
Membrane Proteins
0
wolframin protein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
403-405Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
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