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Respiratory insufficiency in a patient with hereditary neuropathy with liability to pressure palsy
  1. MASATO ASAHINA,
  2. SATOSHI KUWABARA,
  3. TAKAMICHI HATTORI
  1. Department of Neurology, School of Medicine
  2. Chiba University, 1–8–1 Inohana, Chuo-ku
  3. Chiba 260–8670, Japan
  4. Department of Neurology, Narita Red Cross Hospital, 90–1 Iida-cho, Narita-shi, Chiba 286–0041, Japan
  1. Dr Masato Asahina, 1–8–1 Inohana, Chuo-ku, Chiba-shi, Chiba 260–8670, Japan. Telephone 0081 43 222 7171 ext 5414; fax 0081 43 226 2160; email:masatoasahina{at}msn.com
  1. MASATO ASAHINA,
  2. KAORU KATAYAMA
  1. Department of Neurology, School of Medicine
  2. Chiba University, 1–8–1 Inohana, Chuo-ku
  3. Chiba 260–8670, Japan
  4. Department of Neurology, Narita Red Cross Hospital, 90–1 Iida-cho, Narita-shi, Chiba 286–0041, Japan
  1. Dr Masato Asahina, 1–8–1 Inohana, Chuo-ku, Chiba-shi, Chiba 260–8670, Japan. Telephone 0081 43 222 7171 ext 5414; fax 0081 43 226 2160; email:masatoasahina{at}msn.com

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Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder, the molecular basis of which is a 1.5 mb deletion in chromosome 17p11.2 including the peripheral myelin protein-22 (PMP-22) gene.1 HNPP typically presents recurrent pressure palsies of peripheral nerves, such as the axillary, median, radial, ulnar, or peroneal nerves, at common entrapment sites. Respiratory muscle weakness has not been previously reported in HNPP. We describe a patient with HNPP in whom respiratory failure and proximal muscle weakness were prominent features.

The patient started to have dyspnoea on exertion at the age of 44. At the age of 47, he noticed a slowly progressive weakness of the pelvic girdle and lower limbs. At the age of 57, he experienced difficulty in going up stairs. However, he was almost independent in daily life At the age of 60, he was admitted to Narita Red Cross Hospital as an emergency patient with a coma due to CO2 narcosis (PCO2 117.6, PO2 64.0). Responding to mechanical ventilatory support, he completely recovered consciousness within a day. His respiratory condition in the daytime improved to that previously. However, he needed mechanical ventilation during sleep because of nocturnal hypoventilation.

The patient had no history of diabetes mellitus, pulmonary disease, or other medical problems. There was no …

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