Rinsho Shinkeigaku (Clinical Neurology)

Case Report

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

Yumi Matsuyama, M.D.1), Marie Satake, M.D.1), Ryotaro Kamei, M.D.2) and Tomokatsu Yoshida, M.D., Ph.D.3)

1)Department of Neurology, Hamanomachi Hospital
2)Department of Radiology, Hamanomachi Hospital
3)Department of Neurology, Kyoto Prefectural University of Medicine

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.
Full Text of this Article in PDF (886K)

(CLINICA NEUROL, 60: 137|141, 2020)
key words: Alexander disease (AxD), loss of consciousness, convulsion, psychogenic non-epileptic seizures (PNES), fall

(Received: 4-Jul-19)