Tags

Type your tag names separated by a space and hit enter

[A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation].
Rinsho Shinkeigaku. 1998 Dec; 38(12):1037-41.RS

Abstract

The patient was a 61-year-old man who suffered from gait disturbance since childhood. He also had mental retardation. Gait disturbance was slowly progressive. His mother, sister, brother and son of his sister suffered from gait disturbance. On neurological examination, he showed mental retardation, optic nerve atrophy and neural deafness. He also showed severe muscle atrophy and weakness of bilateral lower limbs associated with pes cavus. Muscle tonus of lower limbs and patellar tendon reflex were increased bilaterally. Achilles tendon reflex was absent. Babinski and Chaddock signs were positive. Superficial and deep sensations were almost normal. There were no cerebellar signs. Blood chemistry was normal. On nerve conduction studies, motor nerve conduction velocity of the upper limbs was normal and that of the posterior tibial nerve was decreased; right 36.0m/sec, left 29.7m/sec. Sensory nerve conduction velocity of the median nerve was slightly decreased; right 36.5m/sec, left 45.2m/sec and sural nerve did not respond to electric stimuli. On sural nerve biopsy, the density of myelinated fibers was severely decreased. Onion bulb formation was not observed. We classified this case as hereditary motor and sensory neuropathy (HMSN) type II based on nerve conduction studies and findings from sural nerve biopsy. HMSN with pyramidal tract sign has been classified as type V and HMSN with optic nerve atrophy as type VI. This case had characteristic symptoms as type V and VI. Histopathological findings of HMSN type V and VI have not been established yet. This case might provide an important clue for classification of HMSN.

Authors+Show Affiliations

Department of Internal Medicine, Shimane Medical University.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Review

Language

jpn

PubMed ID

10349345

Citation

Adachi, T, et al. "[A Case of Hereditary Motor and Sensory Neuropathy With Pyramidal Tract Sign, Optic Nerve Atrophy and Mental Retardation]." Rinsho Shinkeigaku = Clinical Neurology, vol. 38, no. 12, 1998, pp. 1037-41.
Adachi T, Imaoka K, Shirasawa A, et al. [A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation]. Rinsho Shinkeigaku. 1998;38(12):1037-41.
Adachi, T., Imaoka, K., Shirasawa, A., Yamaguchi, S., & Kobayashi, S. (1998). [A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation]. Rinsho Shinkeigaku = Clinical Neurology, 38(12), 1037-41.
Adachi T, et al. [A Case of Hereditary Motor and Sensory Neuropathy With Pyramidal Tract Sign, Optic Nerve Atrophy and Mental Retardation]. Rinsho Shinkeigaku. 1998;38(12):1037-41. PubMed PMID: 10349345.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of hereditary motor and sensory neuropathy with pyramidal tract sign, optic nerve atrophy and mental retardation]. AU - Adachi,T, AU - Imaoka,K, AU - Shirasawa,A, AU - Yamaguchi,S, AU - Kobayashi,S, PY - 1999/6/1/pubmed PY - 1999/6/1/medline PY - 1999/6/1/entrez SP - 1037 EP - 41 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 38 IS - 12 N2 - The patient was a 61-year-old man who suffered from gait disturbance since childhood. He also had mental retardation. Gait disturbance was slowly progressive. His mother, sister, brother and son of his sister suffered from gait disturbance. On neurological examination, he showed mental retardation, optic nerve atrophy and neural deafness. He also showed severe muscle atrophy and weakness of bilateral lower limbs associated with pes cavus. Muscle tonus of lower limbs and patellar tendon reflex were increased bilaterally. Achilles tendon reflex was absent. Babinski and Chaddock signs were positive. Superficial and deep sensations were almost normal. There were no cerebellar signs. Blood chemistry was normal. On nerve conduction studies, motor nerve conduction velocity of the upper limbs was normal and that of the posterior tibial nerve was decreased; right 36.0m/sec, left 29.7m/sec. Sensory nerve conduction velocity of the median nerve was slightly decreased; right 36.5m/sec, left 45.2m/sec and sural nerve did not respond to electric stimuli. On sural nerve biopsy, the density of myelinated fibers was severely decreased. Onion bulb formation was not observed. We classified this case as hereditary motor and sensory neuropathy (HMSN) type II based on nerve conduction studies and findings from sural nerve biopsy. HMSN with pyramidal tract sign has been classified as type V and HMSN with optic nerve atrophy as type VI. This case had characteristic symptoms as type V and VI. Histopathological findings of HMSN type V and VI have not been established yet. This case might provide an important clue for classification of HMSN. SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/10349345/[A_case_of_hereditary_motor_and_sensory_neuropathy_with_pyramidal_tract_sign_optic_nerve_atrophy_and_mental_retardation]_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -