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Epididymoorchitis
Joseph Junewick, MD FACR
over 8 years ago
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ARSt Case Repository

Alexander Disease

Case Detail

Anatomy: Brain-Spine
Junewick
Joseph Junewick, MD FACR
Diagnostic Category: Genetic
Created: over 5 years ago
Updated: over 5 years ago
Tags: PEDS
Modality/Study Types: MR
Activities:
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History

2 year old male with macrocephaly and regressive development.


Case Images


Diagnosis

Alexander Disease

Findings

MR – Extensive symmetric T2 hyperintensity of the cerebral white matter mainly anteriorly but also involving the external capsules.

Discussion

Alexander disease, or fibrinoid leukodystrophy, is characterized by massive deposition of Rosenthal fibers (astrocytic cytoplasmic inclusion bodies) in the subependymal, subpial, and perivascular regions. Three clinical forms exist. The infantile form is characterized by early onset of macrocephaly, psychomotor retardation, and seizure with death occuring within 2–3 years. In the juvenile form, progressive bulbar symptoms and spasticity manifest between 7 and 14 years of age. In adults, symptoms may be indistinguishable from multiple sclerosis. Alexander disease has a predilection for the frontal subcortical white matter early which becomes more confluent and eventually progresses posteriorly to the parietal white matter and internal and external capsules. White matter involvement is hypodense on CT and T2 hyperintense on MR; enhancement is often seen near the tips of the frontal horns early in the disease course. In the late stages of the disease, cysts may develop.

Reference

Cheon JE, Kim IO, Hwang YS, et al. Leukodystrophy in Children: A Pictorial Review of MR Imaging Features. Radiographics (2002); 22:461-476.



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