Intermittent positive airway pressure by nasal mask as a treatment for respiratory insufficiency in a patient with Charcot-Marie-Tooth disease

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 Steep) related sleep hypopnea syndrome was successfully treated with Nasal Intermittent Positive Pressure Ventilation (NIPPV).