title: Intermittent positive airway pressure by nasal mask as a treatment for respiratory insufficiency in a patient with Charcot-Marie-Tooth disease.
abstract: 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).
authors.affiliation: Department of Pulmonary Medicine, University Hospital Antwerp, Wilrijkstraat 10, 2650 Edegem, Belgium. karendarquennes@yahoo.com
authors.forename: K
authors.initials: K
authors.lastname: Darquennes
authors.forename: P
authors.initials: P
authors.lastname: De Jonghe
authors.forename: D
authors.initials: D
authors.lastname: Daems
authors.forename: W
authors.initials: W
authors.lastname: De Backer
authors.forename: J
authors.initials: J
authors.lastname: Verbraecken
mesh_terms: D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D005260:Female; D006801:Humans; D007385:Intermittent Positive-Pressure Ventilation; D012131:Respiratory Insufficiency / Q000150:complications / Q000628:therapy*; D012891:Sleep Apnea Syndromes / Q000150:complications / Q000628:therapy