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Narcolepsy & CMT1.pdf

NEL370416C01.pdf

🔗 Source: nel.edu

📊 Size: 750 KB

👤 Author: Editor

⬇️ Downloads: 90

Summary

An 8-year-old boy was diagnosed with both Charcot-Marie-Tooth disease type 1 (CMT1) and narcolepsy with cataplexy, a combination not previously reported. He presented with excessive daytime sleepiness, sudden episodes of leg weakness triggered by emotion, and frequent falling. Genetic testing confirmed a novel mutation in the PMP22 gene, consistent with CMT1A. A multiple sleep latency test showed multiple sleep onset REM periods with reduced sleep latency, confirming narcolepsy. Treatment with methylphenidate improved daytime sleepiness and reduced falling. The case highlights the importance of considering narcolepsy in patients with sleep disorders and CMT1, as cataplexy may be overlooked as distal muscle weakness.

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Description

An 8-year-old boy was diagnosed with both Charcot-Marie-Tooth disease type 1 (CMT1) and narcolepsy with cataplexy, a combination not previously reported.

Technical Information

File Format: PDF
File Size: 750 KB
Pages: 4
Language: EN
Author: Editor
Total Downloads: 90
Last Updated: 1 month ago

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