Literature DB >> 28580052

MRI diagnosis of infantile Alexander disease in a 14 month old African boy.

Nondumiso Dlamini1, Vicci du Plessis1.   

Abstract

Alexander disease, also known as fibrinoid leukodystrophy, is a rare leukoencephalopathy which occurs due to a mutation in the glial fibrillary acid protein (GFAP) gene. Magnetic resonance imaging (MRI) has proven to be highly sensitive in making the diagnosis. Typical MRI findings, in combination with positive genetic blood analysis, confirm the diagnosis.

Entities:  

Keywords:  Alexander disease; Fibrinoid leukodystrophy; Frontal lobe predominance; Infantile; Van der Knaap MRI diagnostic criteria

Mesh：

Year:  2016        PMID： 28580052      PMCID： PMC5443584          DOI： 10.3941/jrcr.v10i10.2943

Source DB:  PubMed          Journal:  J Radiol Case Rep        ISSN： 1943-0922


  11 in total

1.  A 2-month-old infant with vomiting, seizures, and progressive apathy.

Authors:  Alexander Larsen; Christine Martin; Sascha Meyer; Tilman Rohrer; Panagiotis Papanagiotou; Marjo van der Knaap; Ludwig Gortner
Journal:  Eur J Pediatr       Date:  2012-06       Impact factor: 3.183

2.  Alexander disease: diagnosis with MR imaging.

Authors:  M S van der Knaap; S Naidu; S N Breiter; S Blaser; H Stroink; S Springer; J C Begeer; R van Coster; P G Barth; N H Thomas; J Valk; J M Powers
Journal:  AJNR Am J Neuroradiol       Date:  2001-03       Impact factor: 3.825

Review 3.  Inborn errors of metabolism: combining clinical and radiologic clues to solve the mystery.

Authors:  Mohannad Ibrahim; Hemant A Parmar; Nickoleta Hoefling; Ashok Srinivasan
Journal:  AJR Am J Roentgenol       Date:  2014-09       Impact factor: 3.959

Review 4.  Leukodystrophy in children: a pictorial review of MR imaging features.

Authors:  Jung-Eun Cheon; In-One Kim; Yong Seung Hwang; Ki Joong Kim; Kyu-Chang Wang; Byung-Kyu Cho; Je Geun Chi; Chong Jai Kim; Woo Sun Kim; Kyung Mo Yeon
Journal:  Radiographics       Date:  2002 May-Jun       Impact factor: 5.333

5.  Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.

Authors:  Tulen Pekny; Maryam Faiz; Ulrika Wilhelmsson; Maurice A Curtis; Radoslav Matej; Omar Skalli; Milos Pekny
Journal:  APMIS       Date:  2013-04-18       Impact factor: 3.205

Review 6.  Magnetic resonance findings in leucodystrophies and MS.

Authors:  P Labauge
Journal:  Int MS J       Date:  2009-06

7.  Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Authors:  Lili Zang; Jingmin Wang; Yuwu Jiang; Qiang Gu; Zhijie Gao; Yanling Yang; Jiangxi Xiao; Ye Wu
Journal:  J Hum Genet       Date:  2013-01-31       Impact factor: 3.172

8.  Alexander's disease: case report including histopathological and electron microscopic features.

Authors:  G Cole; F De Villiers; N S Proctor; I Freiman; P Bill
Journal:  J Neurol Neurosurg Psychiatry       Date:  1979-07       Impact factor: 10.154

9.  GFAP mutations, age at onset, and clinical subtypes in Alexander disease.

Authors:  M Prust; J Wang; H Morizono; A Messing; M Brenner; E Gordon; T Hartka; A Sokohl; R Schiffmann; H Gordish-Dressman; R Albin; H Amartino; K Brockman; A Dinopoulos; M T Dotti; D Fain; R Fernandez; J Ferreira; J Fleming; D Gill; M Griebel; H Heilstedt; P Kaplan; D Lewis; M Nakagawa; R Pedersen; A Reddy; Y Sawaishi; M Schneider; E Sherr; Y Takiyama; K Wakabayashi; J R Gorospe; A Vanderver
Journal:  Neurology       Date:  2011-09-14       Impact factor: 11.800

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

Authors:  Fumiko Nishibayashi; Miho Kawashima; Yoshiaki Katada; Nobuyuki Murakami; Miwako Nozaki
Journal:  J Med Case Rep       Date:  2013-07-26
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