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Hereditary motor and sensor neuropathy: a cause of acute stridor
  1. T Jaiganesh,
  2. A Bentley
  1. Intensive Care Unit, North Manchester General Hospital, Delaunays Road, Crumpsall, Manchester M8 6RB
  1. Correspondence to:
 Dr A M Bentley
 Ventilatory Support Unit, Wythenshaws Hospital, Southmoor Road, Manchester, M23 9LT; Bemplexaol.com

Abstract

We present an acute stridor secondary to bilateral vocal cord paresis in a patient with demyelinating form (type I) of hereditary motor and sensory neuropathy (HMSN). Management problems are discussed and HMSN reviewed.

  • CMT, charcot marie tooth
  • ENT, ear, nose, and throat
  • HMSN, hereditary motor and sensory neuropathy
  • ICU, intensive care unit
  • PMA, peroneal muscular atrophy
  • hereditary motor and sensory neuropathy

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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.

DISCUSSION

HMSN, previously known as charcot marie tooth (CMT) disease or peroneal muscular atrophy (PMA), was initially described in 1868 by two French neurologists (Charcot and Marie)1 and one English neurologist (Tooth)2 as a familial condition causing distal muscular atrophy. HMSN is a slowly progressive genetic disorder, which causes deterioration of the peripheral nerves resulting in weakness and sensory loss of the distal limbs. There are a few identified cases that involve the vocal cords and/or the respiratory muscles, particularly the diaphragm (table 1).

Table 1

 Clinical presentation of HMSN related to the genetic defects

Cranial nerves can be involved in the pathological process of HMSN. In a cohesive overview only 11 cases of HMSN with bilateral vocal cord paresis have been observed and of that only two have occurred in type I.3 Vocal cord and diaphragm involvement is usually a feature of type IIc.4 Most of the patients with HMSN tolerate vocal cord paresis remarkably well but can result in quick rapid decompensation, as shown in our case, possibly related to inter-current infection. The patient’s mother also suffered from similar condition and her son is currently suffering from a the same condition, supporting autosomal dominant inheritance, but none of them have developed stridor. This is possibly because there may be some re-innervation and recovery of function.

Vocal cord paresis in HMSN is most often bilateral and is not restricted to type IIc as was previously thought. Vocal cord paresis may be overlooked or misdiagnosed as asthma, as in our patient. The small number of cases with tracheostomy in children suggests that in adults there may be a partial recovery. In our case this will be reviewed in the regional neuromuscular clinic.

REFERENCES

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Footnotes

  • Competing interests: none declared

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