CMT respiratory insufficiency : Intermittent positive airway pressure by nasal m

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Acta Clin Belg. 2006 Jul-Aug;61(4):176-81.

Intermittent positive airway pressure by nasal mask as a treatment

for respiratory insufficiency in a patient with Charcot-Marie-Tooth

disease.

Darquennes K, De Jonghe P, Daems D, De Backer W, Verbraecken J.

Department of Pulmonary Medicine, University Hospital Antwerp,

Wilrijkstraat 10, 2650 Edegem, Belgium.

Charcot-Marie-Tooth disease (CMT) is a slowly progressive hereditary

neuropathy characterised by degeneration of motor and sensory

peripheral nerves resulting in distal muscle weakness with atrophy

and sensory impairment.

We report a 35-year-old woman with CMT presenting with respiratory

failure due to a pneumonia, sputum impaction and insufficient cough

reflex. After recovery, we diagnosed a very severe restrictive lung

function disturbance caused by muscle weakness and a possible

coexistent unilateral diaphragm paralysis.

A very severe REM (Rapid Eye Movement Sleep) related sleep hypopnea

syndrome was successfully treated with Nasal Intermittent Positive

Pressure Ventilation (NIPPV).