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. 2018 Jul 20;4(4):e248.
doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug.

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Keren Machol  1 , Joseph Jankovic  1 , Dhanya Vijayakumar  1 , Lindsay C Burrage  1 , Mahim Jain  1 , Richard A Lewis  1 , Gregory N Fuller  1 , Mingchu Xu  1 , Marta Penas-Prado  1 , Maria K Gule-Monroe  1 , Jill A Rosenfeld  1 , Rui Chen  1 , Christine M Eng  1 , Yaping Yang  1 , Brendan H Lee  1 , Paolo M Moretti  1 ; Undiagnosed Diseases Network; Shweta U Dhar  1
Affiliations

Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

Keren Machol et al. Neurol Genet. .
No abstract available

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Figures

Figure
Figure. Clinical, histologic, and imaging findings
A 35-year-old woman with juvenile-onset Alexander disease (AD) (A and B). Note relative macrocephaly (FOC 56 cm, 94th centile) and esotropia. The photomontage of the right (C) and left (D) eyes shows the atrophic gliosis from prior optic disc edema and the marked retinal atrophy and secondary pigmentary degeneration. The retinal vasculature appears to show glial sheathing and peripheral vaso-obliteration in each eye. Brain MRI with contrast at 29 years (E and F). (E) Axial T2 image demonstrates a T2 hyperintense lesion centered in the left middle cerebellar peduncle (yellow arrow). (F) Axial T1 image with contrast shows an area of central enhancement within the lesion (yellow arrow). Partially imaged is cystic encephalomalacia within the frontal lobes bilaterally (yellow asterisk) with surgical changes in the right frontal lobe not included. Slides from patient's brain lesion (G and H) demonstrating AD histologic features. The prototypical histologic feature of AD is prominent Rosenthal fiber formation (G, solid arrows). An additional feature unique to AD is the presence of Rosenthal fiber-like eosinophilic cytoplasmic inclusions in astrocyte cell bodies (G, open arrows). The cell body inclusions are generally not seen in other Rosenthal fiber–rich conditions such as low-grade primary brain tumors. Astrocytes with markedly atypical nuclei (H, solid arrow) are also a characteristic morphologic feature of AD and can mimic the neoplastic cells of astrocytoma or ganglioglioma. FOC = fronto-occipital circumference.
See this image and copyright information in PMC

References

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