Infantile-onset Alexander disease in a child with long-term follow-up by serial magnetic resonance imaging: A case report

被引：3

作者：

Nishibayashi F. ^{[1
]}

Kawashima M. ^{[1
]}

Katada Y. ^{[1
]}

Murakami N. ^{[2
]}

Nozaki M. ^{[1
]}

机构：

[1] Department of Radiology, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama 343-8555, 2-1-50, Minamikoshigaya

[2] Department of Pediatrics, Dokkyo Medical University Koshigaya Hospital, Koshigaya-shi, Saitama 343-8555, 2-1-50, Minamikoshigaya

来源：

Journal of Medical Case Reports | / 7卷 / 1期

关键词：

White Matter; Apparent Diffusion Coefficient; Glial Fibrillary Acidic Protein; Medulla Oblongata; Deep Gray Matter;

D O I：

10.1186/1752-1947-7-194

中图分类号：

学科分类号：

摘要：

Introduction. Alexander disease is a rare disorder resulting from a glial fibrillary acidic protein gene mutation which causes progressive degeneration of white matter. With the usual poor prognosis, there are few case reports with long-term follow-up. We report the five-year clinical course of Alexander disease in one case using serial magnetic resonance imaging. Case presentation. A 12-month-old Japanese male was referred to the pediatrics department in our hospital because of developmental retardation. Alexander disease was diagnosed by gene examination of the mutation of a glial fibrillary acidic protein. Magnetic resonance imaging findings showed abnormalities in white matter, deep gray matter, and medulla oblongata. Serial magnetic resonance imaging examinations until the age of five were performed and changes in magnetic resonance imaging findings were compared to the progression in clinical symptoms. Conclusion: Alexander disease is a very rare disease with a variety of clinical phenotypes. Therefore serial magnetic resonance imaging studies for long-term survival infantile cases including our case may be important in the analysis of the pathophysiological mechanism. © 2013Nishibayashi et al.; licensee BioMed Central Ltd.

引用

共 7 条

[1] Murakami N., Tsuchiya T., Kanazawa N., Tsujino S., Nagai T., Novel deletion mutation in GFAP gene in an infantile form of Alexander Disease, Pediatr Neurol, 38, pp. 50-52, (2008)
[2] Van Der Knaap M.S., Naidu S., Breiter S.N., Blaser S., Stroink H., Springer S., Begeer J.C., Van Coster R., Barth P.G., Thomas N.H., Valk J., Powers J.M., Alexander Disease: Diagnosis with MR imaging, Am J Neuroradiol, 22, pp. 541-552, (2001)
[3] Sakakibara T., Takahashi Y., Fukuda K., Inoue T., Kurosawa T., Nishikubo T., Shima M., Taoka T., Aida N., Tsujino S., Kanazawa N., Yoshioka A., A case of infantile Alexander disease diagnosed by magnetic resonance imaging and genetic analysis, Brain Dev, 29, pp. 525-528, (2007)
[4] Yoshida T., Nakagawa M., Clinical aspects and pathology of Alexander disease, and morphological and functional alteration of astrocytes induced by GFAP mutation, Neuropathol, 32, pp. 440-446, (2012)
[5] Yoshida T., Sasaki M., Yoshida M., Namekawa M., Okamoto Y., Tsujino S., Sasayama H., Mizuta I., Nakagawa M., Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis, J Neurol, 258, pp. 1998-2008, (2011)
[6] Van Der Voorn J.P., Pouwels P.J.W., Salomoms G.S., Barkhof F., Van Der Knaap M.S., Unraveling pathology in juvenile Alexander disease: Serial quantitative MR imaging and spectroscopy of white matter, Neuroradiol, 51, pp. 669-675, (2009)
[7] Shiihara T., Yoneda T., Mizuta I., Yoshida T., Nakagawa M., Shimizu N., Serial MRI changes in a patient with infantile Alexander disease and prolonged survival, Brain Dev, 33, pp. 604-607, (2011)

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