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[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling].

Abstract

A 41-year-old woman presented with short-stepped gait from 20 years old and with repeated loss of consciousness from 21 years old. She had a deep cerebral white matter lesion on brain MRI at 34 years of age, but she did not reach a definitive diagnosis. At the age of 41, the gait disorder rapidly worsened after fall and fall-related head trauma. She had fixation nystagmus, dysphonia, speech disorder and exaggerated tendon reflexes. Her bilateral plantar reflex was positive, and she was not able to walk by herself. The brain and cervical MRI showed atrophy of the medulla and upper spinal cord and a deep cerebral white matter lesion. As these imaging features were suggestive of Alexander disease (AxD), we sequenced the GFAP gene. As a result, we identified a heterozygous p.R79H (c.250 G>A) missense mutation of the GFAP gene in the patient. This case suggests that loss of consciousness may be caused by autonomic disorder due to orthostatic hypotension and reflex syncope (vasovagal syncope), psychogenic non-epileptic seizures (PNES) by mental and physical stress. It is important to consider the pathophysiology and management of Alexander disease, in which the progression of gait disorder caused by pyramidal tract disorder is rapidly exacerbated by fall and head injury.

Authors+Show Affiliations

Department of Neurology, Hamanomachi Hospital.Department of Neurology, Hamanomachi Hospital.Department of Radiology, Hamanomachi Hospital.Department of Neurology, Kyoto Prefectural University of Medicine.

Pub Type(s)

English Abstract
Journal Article

Language

jpn

PubMed ID

31956193

Citation

Matsuyama, Yumi, et al. "[A Case of Alexander Disease With Repeated Loss of Consciousness and With Rapid Aggravation of Dysbasia By Falling]." Rinsho Shinkeigaku = Clinical Neurology, 2020.
Matsuyama Y, Satake M, Kamei R, et al. [A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling]. Rinsho Shinkeigaku. 2020.
Matsuyama, Y., Satake, M., Kamei, R., & Yoshida, T. (2020). [A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling]. Rinsho Shinkeigaku = Clinical Neurology, doi:10.5692/clinicalneurol.cn-001341.
Matsuyama Y, et al. [A Case of Alexander Disease With Repeated Loss of Consciousness and With Rapid Aggravation of Dysbasia By Falling]. Rinsho Shinkeigaku. 2020 Jan 19; PubMed PMID: 31956193.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling]. AU - Matsuyama,Yumi, AU - Satake,Marie, AU - Kamei,Ryotaro, AU - Yoshida,Tomokatsu, Y1 - 2020/01/19/ PY - 2020/1/21/entrez KW - Alexander disease (AxD) KW - convulsion KW - fall KW - loss of consciousness KW - psychogenic non-epileptic seizures (PNES) JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku N2 - A 41-year-old woman presented with short-stepped gait from 20 years old and with repeated loss of consciousness from 21 years old. She had a deep cerebral white matter lesion on brain MRI at 34 years of age, but she did not reach a definitive diagnosis. At the age of 41, the gait disorder rapidly worsened after fall and fall-related head trauma. She had fixation nystagmus, dysphonia, speech disorder and exaggerated tendon reflexes. Her bilateral plantar reflex was positive, and she was not able to walk by herself. The brain and cervical MRI showed atrophy of the medulla and upper spinal cord and a deep cerebral white matter lesion. As these imaging features were suggestive of Alexander disease (AxD), we sequenced the GFAP gene. As a result, we identified a heterozygous p.R79H (c.250 G>A) missense mutation of the GFAP gene in the patient. This case suggests that loss of consciousness may be caused by autonomic disorder due to orthostatic hypotension and reflex syncope (vasovagal syncope), psychogenic non-epileptic seizures (PNES) by mental and physical stress. It is important to consider the pathophysiology and management of Alexander disease, in which the progression of gait disorder caused by pyramidal tract disorder is rapidly exacerbated by fall and head injury. SN - 1882-0654 UR - https://www.unboundmedicine.com/medline/citation/31956193/[A_case_of_Alexander_disease_with_repeated_loss_of_consciousness_and_with_rapid_aggravation_of_dysbasia_by_falling] L2 - https://dx.doi.org/10.5692/clinicalneurol.cn-001341 DB - PRIME DP - Unbound Medicine ER -