X-Linked Myotubular Myopathy and Duchenne Muscular Dystrophy in a Preterm Infant: A Rare Combination.
Pediatrics
; 146(3)2020 09.
Article
in En
| MEDLINE
| ID: mdl-32826339
ABSTRACT
Disorders of central and peripheral nervous system should be considered in floppy infants with ventilator dependence. Workup for neuromuscular disorders should be undertaken in infants with hypotonia, weakness, contractures, feeding difficulties, or failed attempts at extubation. We present the case of a preterm infant with hypotonia and ventilator dependence where despite a positive result, further investigations were undertaken because of lack of clinical correlation. The infant had a rare combination of 2 neuromuscular conditions X-linked myotubular myopathy and Duchenne muscular dystrophy. One was the reason for immediate clinical manifestation and the other influenced the prognosis and decision-making in determining reorientation of care. This case demonstrates the value of interpretation of a positive result that did not explain the clinical picture and warranted consideration of further diagnosis. This case also emphasizes the importance of discussions with family about the prognosis of 2 conditions that influenced decision making.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Infant, Premature
/
Muscular Dystrophy, Duchenne
/
Myopathies, Structural, Congenital
Type of study:
Prognostic_studies
Limits:
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Pediatrics
Year:
2020
Document type:
Article