[Respiratory disease and diaphragm paralysis in Charcot-Marie-Tooth disease].
Diaphragmatic bilateral palsy is uncommon in children. The most important etiologies are thoracic surgery and obstetric trauma. Respiratory muscle impairment is a rare phenomenon in patients with Charcot-Marie-Tooth disease (CMT). However, it can be associated with restrictive pulmonary impairment, phrenic nerve dysfunction or thoracic cage abnormalities. We report two paediatric cases of CMT disease with type 2 respiratory failure due to diaphragmatic dysfunction. In both cases treatment with non-invasive mechanical ventilation resulted in satisfactory clinical improvement. Evidence of phrenic damage was the main clue in one patient in order to obtain an accurate diagnostic of her disease.
Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, España.
M
M
Pons Odena
I
I
Piqueras Marimbaldo
J
J
Colomer Oferil
S
S
Segura Matute
A
A
Palomeque Rico
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D005260:Female; D006801:Humans; D012131:Respiratory Insufficiency / Q000209:etiology*; D012133:Respiratory Paralysis / Q000209:etiology*