CASE REPORTS Hereditary motor and sensor neuropathy: a cause of acute stridor

A 48 year old female attended the emergency department with complaints of cough, breathing difficulty, and flu-like symptoms for one day. She suffers from hereditary motor and sensory neuropathy (HMSN) Type Ia, which had been detected by isolating DNA from a blood sample for the presence of duplication on Chromosome 17. She had been treated for asthma for two years and had a history of nocturnal choking episodes. Examination revealed inspiratory stridor with indrawing of neck muscles. The ear, nose, and throat (ENT) surgeons, consultant anaesthetist, and intensivist were contacted. ENT examination through a fibre optic flexible laryngoscope revealed smooth white paramedian position of the vocal cords, which were not swollen. Neurological examination revealed peripheral lower motor neurone (LMN) wasting of the arm and legs distally with areflexia. Family history was suggestive of an autosomal dominant pattern of inheritance. There was no evidence of diaphragmatic or respiratory muscle weakness. She was transferred to theatre recovery suite and had a gaseous induction for endotracheal intubation. Further inspection of the vocal cords confirmed they were partially adducted. The patient was intubated and subsequently transferred to the intensive care unit (ICU). Forty eight hours later she went to theatre for an examination of vocal cords using a flexible laryngoscope prior to consideration of extubation. The vocal cords remained in paramedian position and were now oedematous. She therefore underwent a formal tracheostomy and returned to ICU where she was weaned and was discharged home with tracheostomy in situ with an early follow up to the regional neuromuscular clinic.