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[An autopsy case of neuronal type Charcot-Marie-Tooth disease (HMSN type II) with nerve deafness and psychiatric symptoms].
No To Shinkei. 1992 Jun; 44(6):571-8.NT

Abstract

The clinical and pathological findings of a 41-year-old male patient with atypical Charcot-Marie-Tooth disease were reported. There were 3 cases of subarachnoid haemorrhage, 2 nerve deafness and 2 hereditary motor and sensory neuropathy (HMSN) in his family. He had suffered from progressive nerve deafness since 5 years old and gait disturbance since 37 years old. He had been admitted to the psychiatric hospital 3 times because of hallucinatory-delusional state and behavior abnormalities. Neurological examinations at 39 years old revealed that he had mental deterioration (IQ 66), nerve deafness, diffuse muscle atrophy, most marked distally, sensory disturbance, areflexia, positive Romberg's sign, orthostatic hypotension, dysphagia and slurred speech. MCV of median nerve was 27.8 m/sec, and SCV was not evoked. EEG revealed nonspecific dysfunction of the brain. He died of ileus-like condition at 41 years old. General autopsy showed haemorrhagic infarction of the jejunum and ileum due to compression of the superior mesenteric artery and vein by an adhesion band of connective tissue formed after previous appendectomy. Neuropathological examinations revealed axonal degeneration and loss of myelinated fibers with schwannosis of anterior and posterior spinal nerve roots as well as peripheral nerves. The posterior roots were more severely affected than the anterior ones. Ganglion cells of the posterior root ganglia showed remarkable degeneration and loss. There was severe degeneration of the posterior columns, especially in the gracilis, of the spinal cord. Nerve cells in the anterior horns and Clarke's columns also displayed conspicuous atrophy or central chromatolysis followed by gliosis. There was slight degeneration of the posterior spinocerebellar tracts.(

ABSTRACT

TRUNCATED AT 250 WORDS)

Authors+Show Affiliations

Department of Neuropsychiatry, Hirosaki University, School of Medicine, Japan.No affiliation info availableNo 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

1389565

Citation

Yoshimura, I, et al. "[An Autopsy Case of Neuronal Type Charcot-Marie-Tooth Disease (HMSN Type II) With Nerve Deafness and Psychiatric Symptoms]." No to Shinkei = Brain and Nerve, vol. 44, no. 6, 1992, pp. 571-8.
Yoshimura I, Yoshimura N, Hanazono T, et al. [An autopsy case of neuronal type Charcot-Marie-Tooth disease (HMSN type II) with nerve deafness and psychiatric symptoms]. No To Shinkei. 1992;44(6):571-8.
Yoshimura, I., Yoshimura, N., Hanazono, T., Usutani, S., Muramoto, Y., & Fukushima, Y. (1992). [An autopsy case of neuronal type Charcot-Marie-Tooth disease (HMSN type II) with nerve deafness and psychiatric symptoms]. No to Shinkei = Brain and Nerve, 44(6), 571-8.
Yoshimura I, et al. [An Autopsy Case of Neuronal Type Charcot-Marie-Tooth Disease (HMSN Type II) With Nerve Deafness and Psychiatric Symptoms]. No To Shinkei. 1992;44(6):571-8. PubMed PMID: 1389565.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [An autopsy case of neuronal type Charcot-Marie-Tooth disease (HMSN type II) with nerve deafness and psychiatric symptoms]. AU - Yoshimura,I, AU - Yoshimura,N, AU - Hanazono,T, AU - Usutani,S, AU - Muramoto,Y, AU - Fukushima,Y, PY - 1992/6/1/pubmed PY - 1992/6/1/medline PY - 1992/6/1/entrez SP - 571 EP - 8 JF - No to shinkei = Brain and nerve JO - No To Shinkei VL - 44 IS - 6 N2 - The clinical and pathological findings of a 41-year-old male patient with atypical Charcot-Marie-Tooth disease were reported. There were 3 cases of subarachnoid haemorrhage, 2 nerve deafness and 2 hereditary motor and sensory neuropathy (HMSN) in his family. He had suffered from progressive nerve deafness since 5 years old and gait disturbance since 37 years old. He had been admitted to the psychiatric hospital 3 times because of hallucinatory-delusional state and behavior abnormalities. Neurological examinations at 39 years old revealed that he had mental deterioration (IQ 66), nerve deafness, diffuse muscle atrophy, most marked distally, sensory disturbance, areflexia, positive Romberg's sign, orthostatic hypotension, dysphagia and slurred speech. MCV of median nerve was 27.8 m/sec, and SCV was not evoked. EEG revealed nonspecific dysfunction of the brain. He died of ileus-like condition at 41 years old. General autopsy showed haemorrhagic infarction of the jejunum and ileum due to compression of the superior mesenteric artery and vein by an adhesion band of connective tissue formed after previous appendectomy. Neuropathological examinations revealed axonal degeneration and loss of myelinated fibers with schwannosis of anterior and posterior spinal nerve roots as well as peripheral nerves. The posterior roots were more severely affected than the anterior ones. Ganglion cells of the posterior root ganglia showed remarkable degeneration and loss. There was severe degeneration of the posterior columns, especially in the gracilis, of the spinal cord. Nerve cells in the anterior horns and Clarke's columns also displayed conspicuous atrophy or central chromatolysis followed by gliosis. There was slight degeneration of the posterior spinocerebellar tracts.(ABSTRACT TRUNCATED AT 250 WORDS) SN - 0006-8969 UR - https://www.unboundmedicine.com/medline/citation/1389565/[An_autopsy_case_of_neuronal_type_Charcot_Marie_Tooth_disease__HMSN_type_II__with_nerve_deafness_and_psychiatric_symptoms]_ L2 - http://www.diseaseinfosearch.org/result/2125 DB - PRIME DP - Unbound Medicine ER -