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

Authors

  • Nondumiso Nokwanda Dlamini
  • Vicci du Plessis

DOI:

https://doi.org/10.3941/jrcr.v10i10.2943

Keywords:

Alexander disease, Fibrinoid leukodystrophy, Infantile, Van der Knaap MRI diagnostic criteria, Frontal lobe predominance

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.

Author Biographies

Nondumiso Nokwanda Dlamini

Department of Radiology

Vicci du Plessis

Department of Radiology
Journal of Radiology Case Reports October 2016 issue - Cover page: Percutaneous Cholecystostomy and Hydrodissection in Radiofrequency Ablation of Liver Subcapsular Leiomyosarcoma Metastasis Adjacent to the Gallbladder: Protective Effect. by André Azevedo.

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Published

2016-10-23

Issue

Vol. 10 No. 10 (2016)

Section

Pediatric Radiology

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