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[A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy].
Rinsho Shinkeigaku. 1993 Sep; 33(9):957-60.RS

Abstract

An atypical case of hereditary motor and sensory neuropathy (HMSN) type 2 with cerebellar ataxia, hand tremor and bilateral recurrent nerve palsy was described. The patient was a 57-year-old man who complained of dyspnea, stridor , hoarseness during exercise and snored heavily during sleep since he was 20 years old. These symptoms and signs were slowly progressive. He had difficulty in breathing even at resting state when he was 54 years old and since then, he noticed muscle wasting of his hands and feet. Neurological examinations on admission revealed pes cavus, scoliosis, distal muscular atrophy in his four extremities, especially severe in bilateral lower limbs. Deep tendon reflexes were diffusely depressed. The fiberscopic examination demonstrated the limitation of bilateral vocal cord abduction and his tongue was slightly atrophic. Fine postural tremor was found in bilateral hands. Mild limb and truncal ataxias were also noted. Blood pCO2 level was elevated to 66% although FEV1.0% and vital capacity were within normal limits. Peripheral nerve conduction velocities were almost normal, though distal terminal latencies were slightly prolonged and amplitudes of evoked potentials were markedly decreased. The sural nerve biopsy studies revealed the chronic axonal or neuronal degeneration of both large and small myelinated fibers. From the clinical, electrophysiologic and histopathologic findings, the diagnosis of HMSN type 2 with bilateral recurrent nerve palsy and other atypical neurological findings was made. It is practically important to evaluate the presence or absence of vocal cord paralysis in the patients with HMSN from clinical viewpoints.

Authors+Show Affiliations

First Department of Internal Medicine, School of Medicine, Fukuoka University.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

8299275

Citation

Kamei, H, et al. "[A Case of Hereditary Motor and Sensory Neuropathy (HMSN Type 2) With Bilateral Recurrent Nerve Palsy]." Rinsho Shinkeigaku = Clinical Neurology, vol. 33, no. 9, 1993, pp. 957-60.
Kamei H, Nishimaru K, Abe H, et al. [A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy]. Rinsho Shinkeigaku. 1993;33(9):957-60.
Kamei, H., Nishimaru, K., Abe, H., Irie, M., & Ohnishi, A. (1993). [A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy]. Rinsho Shinkeigaku = Clinical Neurology, 33(9), 957-60.
Kamei H, et al. [A Case of Hereditary Motor and Sensory Neuropathy (HMSN Type 2) With Bilateral Recurrent Nerve Palsy]. Rinsho Shinkeigaku. 1993;33(9):957-60. PubMed PMID: 8299275.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of hereditary motor and sensory neuropathy (HMSN type 2) with bilateral recurrent nerve palsy]. AU - Kamei,H, AU - Nishimaru,K, AU - Abe,H, AU - Irie,M, AU - Ohnishi,A, PY - 1993/9/1/pubmed PY - 1993/9/1/medline PY - 1993/9/1/entrez SP - 957 EP - 60 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 33 IS - 9 N2 - An atypical case of hereditary motor and sensory neuropathy (HMSN) type 2 with cerebellar ataxia, hand tremor and bilateral recurrent nerve palsy was described. The patient was a 57-year-old man who complained of dyspnea, stridor , hoarseness during exercise and snored heavily during sleep since he was 20 years old. These symptoms and signs were slowly progressive. He had difficulty in breathing even at resting state when he was 54 years old and since then, he noticed muscle wasting of his hands and feet. Neurological examinations on admission revealed pes cavus, scoliosis, distal muscular atrophy in his four extremities, especially severe in bilateral lower limbs. Deep tendon reflexes were diffusely depressed. The fiberscopic examination demonstrated the limitation of bilateral vocal cord abduction and his tongue was slightly atrophic. Fine postural tremor was found in bilateral hands. Mild limb and truncal ataxias were also noted. Blood pCO2 level was elevated to 66% although FEV1.0% and vital capacity were within normal limits. Peripheral nerve conduction velocities were almost normal, though distal terminal latencies were slightly prolonged and amplitudes of evoked potentials were markedly decreased. The sural nerve biopsy studies revealed the chronic axonal or neuronal degeneration of both large and small myelinated fibers. From the clinical, electrophysiologic and histopathologic findings, the diagnosis of HMSN type 2 with bilateral recurrent nerve palsy and other atypical neurological findings was made. It is practically important to evaluate the presence or absence of vocal cord paralysis in the patients with HMSN from clinical viewpoints. SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/8299275/[A_case_of_hereditary_motor_and_sensory_neuropathy__HMSN_type_2__with_bilateral_recurrent_nerve_palsy]_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -