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Case Reports
. 2022 May 10;14(5):e24870.
doi: 10.7759/cureus.24870. eCollection 2022 May.

Juvenile Alexander Disease: A Rare Leukodystrophy

Rizwan Ullah  1 , Muhammad Hayyan Wazir  1 , Aiysha Gul  2 , Faiza Gul  1 , Amna Arshad  1
Affiliations
Case Reports

Juvenile Alexander Disease: A Rare Leukodystrophy

Rizwan Ullah et al. Cureus. .

Abstract

Alexander disease is an uncommon autosomal dominant leukodystrophy that influences the white matter of the central nervous system (CNS), predominantly affecting the frontal lobe bilaterally. The most obvious pathogenic hallmark is the extensive deposition of cytoplasmic inclusions known as "Rosenthal fibers" in perivascular, subpial, and subependymal astrocytes throughout the CNS. The hereditary cause is mutations in the glial fibrillary acidic protein (GFAP) gene. Infantile, adult, and juvenile onsets are the three subtypes. Psychomotor retardation, mile-stone regression, spastic paresis, brain stem symptoms (swallowing, speech, etc.), and seizures define the juvenile variety, which emerges between the ages of three and 10 years. Macrocephaly has a lower likelihood of being a juvenile type. It is generally diagnosed based on clinical and magnetic resonance imaging findings. A five-year-old girl is presented as a case of juvenile Alexander disease, with typical clinical and MRI features.

Keywords: alexander; disease; juvenile; leukodystrophy; rare.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Abnormal EEG shows neurodegenerative changes.
Figure 2
Figure 2. T2W image shows diffuse symmetrical, bilateral hyperintensities with a preponderance of frontal lobes (red arrows).
T2W image: T2-weighted image
Figure 3
Figure 3. FLAIR image shows diffuse symmetrical, bilateral hyperintensities with preponderance of frontal lobes (blue arrows).
FLAIR: fluid-attenuated inversion recovery
Figure 4
Figure 4. T1W image shows diffuse symmetrical, bilateral hypointensities with preponderance of frontal lobes (green arrows).
T1W image: T1-weighted image
See this image and copyright information in PMC

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