Respiratory disease and diaphragm paralysis in CMT

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An Pediatr (Barc). 2010 Feb 4.

Respiratory disease and diaphragm paralysis in Charcot-Marie-Tooth disease.

Pons Ódena M, Piqueras Marimbaldo I, Colomer Oferil J, Segura Matute S,

Palomeque Rico A.

Servicio de Cuidados Intensivos e Intermedios Pediátricos, Hospital Sant Joan de

Déu, Esplugues de Llobregat, Barcelona, España.

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.