A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis.
J Clin Sleep Med
; 18(11): 2695-2698, 2022 11 01.
Article
in En
| MEDLINE
| ID: mdl-35912694
ABSTRACT
Central hypoventilation is a rare cause of respiratory failure that has been associated with multiple underlying disorders, including congenital central hypoventilation syndrome, obesity hypoventilation syndrome, and several neuromuscular conditions. We report the case of an adolescent who presented with respiratory failure in the setting of acute demyelinating encephalomyelitis whose clinical history was consistent with a congenital myopathy and whom we found to have a Tropomyosin 3 (TPM3) genetic variant on further genetic testing. This case expands the clinical spectrum of causes for late-onset central hypoventilation in the setting of a neuromuscular disorder. CITATION Stringel V, Bizargity P, Laureta E, Kothare S. A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis. J Clin Sleep Med. 2022;18(11)2695-2698.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sleep Apnea, Central
/
Encephalomyelitis
/
Muscular Diseases
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Humans
Language:
En
Journal:
J Clin Sleep Med
Year:
2022
Document type:
Article