Alexander Disease: A Case Report and Review of the Literature

Reichard, Elizabeth; Ball, William S.; Bove, Kevin E.

doi:10.1080/15513819609169294

Cited by 11 publications

(1 citation statement)

References 54 publications

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“…Alexander disease is a rare, usually sporadic, fatal disorder of the CNS [7,8]. The MRI findings demonstrate macrocephaly with hyperintensities on T2-weighted images involving the white matter areas, commonly seen in the frontal areas with progression posteriorly to involve other parts of the cerebral hemispheres [9,10].…”

Section: Discussionmentioning

confidence: 99%

Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Third Confirmed Case with Literature Review

et al. 2009

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) causes early-onset, slowly progressive central nervous system white matter disease, macrocephaly, and later cognitive and motor decline. We describe brain structure in a patient with MLC and proven MLC1 mutations. A male, normal at birth, had macrocephaly at 6 months followed by developmental delay. Magnetic resonance imaging showed extensive signal abnormality in cerebral white matter and subcortical progressive cystic changes in the bilateral temporal and right frontal areas. Biopsy of frontal gyrus at age 15 months showed normal gray matter. The subcortical white matter was pale due to prominent fine uniform 2- to 4-mu-thick vacuoles with a few interspersed myelinated axons and rare microglia. The vacuoles had a single-, double-, or, rarely, triple-unit membrane (resembling myelin) and contained occasional organelles but no intermediate filaments. Both normal myelinated and thinly myelinated axons were observed. The outer and occasionally the inner layers of myelin surrounding intact axons formed blebs that may represent a source for vacuoles. Genetic analysis identified 2 heterozygous mutations of intron 3 (c.322-1 G>A) and intron 7 (c.597+1G>A), the 1st leading to deletion of amino acids 60 to 89 and the 2nd to deletion of amino acids 194 to 199. Fine uniform vacuolation of white matter with wide separation of myelinated axons is the hallmark of MLC in early childhood.

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Section: Discussionmentioning

confidence: 99%

Megalencephalic Leukoencephalopathy with Subcortical Cysts: A Third Confirmed Case with Literature Review

et al. 2009

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Neuro-ophthalmic, Radiographic, and Pathologic Manifestations of Adult-Onset Alexander Disease

Martidis

Yee²,

Azzarelli³

et al. 1999

Arch Ophthalmol

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61-year-old woman had a 3-year history of imbalance. Eye movement studies revealed square-wave jerks, gaze paretic nystagmus, rebound nystagmus, impaired smooth pursuit, impaired optokinetic nystagmus, and abnormal fixation suppression of vestibular nystagmus. A brain magnetic resonance imaging study showed extensive areas of increased signal from the middle cerebellar peduncles and dentate nuclei, which enhanced with gadolinium. Histopathological analysis of a needle biopsy specimen of the left cerebellar peduncle revealed diffuse gliosis in the presence of symmetrically distributed areas of demyelination. There were associated Rosenthal fibers. Clinicopathologic correlation supported a diagnosis of Alexander disease. An adult patient with a history of progressive imbalance, ocular motility abnormalities consistent with cerebellar and/or brainstem dysfunction, and diffuse, symmetric hyperintense magnetic resonance imaging signals in brainstem and cerebellar white matter should suggest a diagnosis of adult-onset Alexander disease.

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