Charcot-Marie-Tooth disease type 1A with diaphragmatic paralysis and blunted respiratory drive
A case report
Abstract
Introduction: Charcot-Marie-Tooth (CMT) disease type 1A is the most frequent inherited motor sensory neuropathy. This case report aims to describe the evaluation, clinical course, and treatment of a patient with CMT type 1A who presented with hypercapnia and blunted central respiratory drive.
Case report: A 42-year-old male patient who, due to sensory impairment after a surgery for wrist fracture, required orotracheal intubation. The patient presented with postextubation hypercapnia and required noninvasive mechanical ventilation (NIMV). Upon admission to our center, the patient presented with orthopnea, paradoxical breathing in supine position, and hypercapnia. The patient was diagnosed with diaphragmatic paralysis, as he showed a maximal transdiaphragmatic pressure of 1.5 cmH2O, a maximal inspiratory pressure of 39%, and a forced vital capacity of 32% of his predicted values. Since hypercapnia could not be fully explained by the pulmonary function test, a rebreathing test was performed to assess the ventilatory response to CO2. A slope of 0.10 cmH2O/mmHg was estimated (below the normal limit of 0.18 cmH2O/mmHg, IQR 0.15-0.23 cmH2O/mmHg). On day 16, the patient was discharged with nocturnal NIMV.
Conclusion: Blunted central respiratory drive should be analyzed where respiratory muscle weakness and/or restriction are not severe enough to explain hypercapnia.
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