Sleep apnoea in Scheie's syndrome.

Area of Science:

• Biochemistry
• Genetics
• Sleep Medicine

Background:

• Scheie syndrome is a rare mucopolysaccharidosis (MPS I-S) resulting from alpha-L-iduronidase deficiency.
• Characterized by distinct physical features including micrognathia and corneal clouding, it affects multiple organ systems.

Observation:

• Two brothers with Scheie syndrome presented with severe obstructive sleep apnea (OSA).
• Symptoms included daytime sleepiness, noisy breathing, significant drops in oxygen saturation, and bradycardia during sleep.
• One brother exhibited EEG changes indicative of cerebral hypoxia, while the other experienced ventricular extrasystoles.

Findings:

• Both patients had markedly elevated apnea-hypopnea indices (59 and 35).
• Alpha-L-iduronidase levels were undetectable in cultured fibroblasts.
• Tracheostomy in the younger brother led to a substantial reduction in apnea-hypopnea index (2.4) and dramatic symptomatic improvement.

Implications:

• This case highlights the significant impact of Scheie syndrome on respiratory function and sleep quality.
• Early recognition and management of sleep apnea in mucopolysaccharidosis patients are crucial.
• Surgical airway intervention, such as tracheostomy, can be highly effective in managing severe sleep apnea associated with this condition.