J Clin Sleep Med. 2024 Mar 7. doi: 10.5664/jcsm.11110. Online ahead of print.
ABSTRACT
Wolfram syndrome (WS) is a rare autosomal recessive disorder affecting approximately 1:500,000 individuals. The disorder is most commonly caused by mutations in the WFS1 gene, which encodes an endoplasmic reticulum (ER) protein, wolframin, which is thought to protect against ER stress-related apoptosis. The major clinical findings of WS are diabetes mellitus and optic atrophy, both of which usually appear before 16 years of age. Common additional findings include sensorineural hearing impairment, central diabetes insipidus, non-autoimmune hypothyroidism, delayed puberty, neurogenic bladder, cerebellar ataxia, and psychiatric disorders. Central sleep apnea is an uncommon but serious feature of WS. However, the clinical details of this manifestation have not been documented. Herein, we report an adolescent with recently diagnosed WS who demonstrated severe central sleep apnea on polysomnography testing.
PMID:38450501 | DOI:10.5664/jcsm.11110