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[A case of hereditary motor and sensory neuropathy with vocal cords palsy and diaphragmatic weakness].
Rinsho Shinkeigaku. 1993 Feb; 33(2):175-81.RS

Abstract

A case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot-Marie-Tooth disease (CMT)) is reported with vocal cords palsy, deafness, diaphragmatic weakness, and cerebellopontine atrophy. A 42-year-old man was admitted to our hospital in April, 1991 with marked respiratory distress. He had been diagnosed as having CMT 14 years previously. On admission to our hospital, he revealed dyspnea with marked stridor during inspiration. Physical examination showed marked use of respiratory accessory muscles with thoracoabdominal paradox in the supine position. Neurologic examination revealed tonic pupils, mild bilateral weakness of facial muscles, deafness, mild bulbar palsy, severe wasting and weakness in both proximal and distal muscles of the arms and legs, areflexia, distal loss of all sensory modalities. Pes cavus and hammer toe were present. Movement of upper extremities was ataxic. No hypertrophic changes were noted in his peripheral nerves. Peripheral nerve conduction study showed undetectable both sensory and motor action potentials. Electromyography showed evidence of denervation, more marked in distal muscles. Auditory brain stem response was undetectable. Chest radiographic film showed a normal-sized heart with marked elevation of both hemidiaphragm. Laryngofiberscopy confirmed the presence of bilateral vocal cord paralysis without tumor formation, inflammation or anomaly. The vocal cords lay near the midline and did not show any movement during respiration. Moderate cerebellopontine atrophy was confirmed on MRI scan. A sural nerve section showed severe decrease of myelinated fibers, and onion bulbs. Diagnosis of HMSN type 1 was made by clinical, electrodiagnostic, and sural nerve sections study.(

ABSTRACT

TRUNCATED AT 250 WORDS)

Authors+Show Affiliations

Department of Neurology, Masuda Red Cross Hospital.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

8319389

Citation

Fukuda, H, et al. "[A Case of Hereditary Motor and Sensory Neuropathy With Vocal Cords Palsy and Diaphragmatic Weakness]." Rinsho Shinkeigaku = Clinical Neurology, vol. 33, no. 2, 1993, pp. 175-81.
Fukuda H, Kitani M, Imaoka K. [A case of hereditary motor and sensory neuropathy with vocal cords palsy and diaphragmatic weakness]. Rinsho Shinkeigaku. 1993;33(2):175-81.
Fukuda, H., Kitani, M., & Imaoka, K. (1993). [A case of hereditary motor and sensory neuropathy with vocal cords palsy and diaphragmatic weakness]. Rinsho Shinkeigaku = Clinical Neurology, 33(2), 175-81.
Fukuda H, Kitani M, Imaoka K. [A Case of Hereditary Motor and Sensory Neuropathy With Vocal Cords Palsy and Diaphragmatic Weakness]. Rinsho Shinkeigaku. 1993;33(2):175-81. PubMed PMID: 8319389.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of hereditary motor and sensory neuropathy with vocal cords palsy and diaphragmatic weakness]. AU - Fukuda,H, AU - Kitani,M, AU - Imaoka,K, PY - 1993/2/1/pubmed PY - 1993/2/1/medline PY - 1993/2/1/entrez SP - 175 EP - 81 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 33 IS - 2 N2 - A case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot-Marie-Tooth disease (CMT)) is reported with vocal cords palsy, deafness, diaphragmatic weakness, and cerebellopontine atrophy. A 42-year-old man was admitted to our hospital in April, 1991 with marked respiratory distress. He had been diagnosed as having CMT 14 years previously. On admission to our hospital, he revealed dyspnea with marked stridor during inspiration. Physical examination showed marked use of respiratory accessory muscles with thoracoabdominal paradox in the supine position. Neurologic examination revealed tonic pupils, mild bilateral weakness of facial muscles, deafness, mild bulbar palsy, severe wasting and weakness in both proximal and distal muscles of the arms and legs, areflexia, distal loss of all sensory modalities. Pes cavus and hammer toe were present. Movement of upper extremities was ataxic. No hypertrophic changes were noted in his peripheral nerves. Peripheral nerve conduction study showed undetectable both sensory and motor action potentials. Electromyography showed evidence of denervation, more marked in distal muscles. Auditory brain stem response was undetectable. Chest radiographic film showed a normal-sized heart with marked elevation of both hemidiaphragm. Laryngofiberscopy confirmed the presence of bilateral vocal cord paralysis without tumor formation, inflammation or anomaly. The vocal cords lay near the midline and did not show any movement during respiration. Moderate cerebellopontine atrophy was confirmed on MRI scan. A sural nerve section showed severe decrease of myelinated fibers, and onion bulbs. Diagnosis of HMSN type 1 was made by clinical, electrodiagnostic, and sural nerve sections study.(ABSTRACT TRUNCATED AT 250 WORDS) SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/8319389/[A_case_of_hereditary_motor_and_sensory_neuropathy_with_vocal_cords_palsy_and_diaphragmatic_weakness]_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -