Alexander Disease: Diagnosis with MR Imaging
Marjo S. van der Knaapa,
Sakkubai Naidua,
Steven N. Breitera,
Susan Blasera,
Hans Stroinka,
Stephan Springera,
Jacobus C. Begeera,
Rudy van Costera,
Peter G. Bartha,
Neil H. Thomasa,
Jacob Valka and
James M. Powersa
a From the Departments of Child Neurology (M.S.v.d.K.) and Radiology (J.V.), Free University Hospital, Amsterdam, the Netherlands; the Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD (S.N.); the Department of Radiology, Johns Hopkins Medical Institute, Baltimore, MD (S.N.B.); the Department of Neuroradiology, Hospital for Sick Children, Toronto, Canada (S.B.); the Department of Child Neurology, St. Elisabeth Hospital, Tilburg, the Netherlands (H.S.); the Department of Pediatrics, Technical University, Munich, Germany (S.S.); the Department of Child Neurology, University Hospital, Groningen, the Netherlands (J.C.B.); the Department of Child Neurology, University Hospital, Gent, Belgium (R.v.C.); the Department of Child Neurology, Academic Medical Center, Amsterdam, the Netherlands (P.G.B.); the Department of Pediatric Neurology, Southampton General Hospital, Southampton, UK (N.H.T.); and the Departments of Pathology and Neurology, University of Rochester Medical School, Rochester NY (J.M.P.).
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FIG 1. Early MR imaging study at the age of 4 months in a patient with autopsy-proved infantile Alexander disease.
A–D, T2-weighted images show abnormally high signal in the medulla (A), the hilus of the dentate nucleus (arrows, A), the entire midbrain except for the red nuclei (B), the basal ganglia, and the thalamus (C). The frontal white matter has a slightly higher signal intensity than the occipital white matter (C). The head of the caudate nucleus is swollen (arrowheads, C). Around the ventricles, there is a rim of low signal intensity (arrows, B–D).
E–G, T1-weighted images show high signal intensity of the periventricular rim (arrows, E). After contrast administration, the T1-weighted images show enhancement of areas in the midbrain (F), ventricular lining (arrows, F), and periventricular rim (arrows, G).
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FIG 2. A–D, Early (A) and late (B–D) MR studies of a patient with autopsy-confirmed juvenile Alexander disease, obtained at ages 20 months (A) and 9 years (B–D). The early T2-weighted image (A) shows extensive cerebral white matter abnormalities with partial sparing of the occipital region. There is a thin periventricular rim of low signal intensity (arrows, A). The basal ganglia and thalamus have an increased signal intensity. The putamen and caudate nucleus are mildly swollen (A). On follow-up, the extent of the cerebral white matter abnormalities is more or less the same; the occipital white matter is still partially spared (D). The basal nuclei are dark and atrophic on the T2-weighted images (D). A thin periventricular rim of low signal intensity is visible (arrows, D). The proton density–weighted image (C) shows enormous cysts in the frontoparietal white matter, a large cavum vergae, and enlarged lateral ventricles. A lesion is seen in the posterior part of the medulla (B)
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FIG 3. MR imaging of a patient with biopsy-confirmed infantile Alexander disease.
A and B, At the age of 1 months, the frontal white matter has a slightly higher signal intensity on T2-weighted images and slightly lower signal intensity on unenhanced T1-weighted images than does the remainder of the cerebral white matter, which has normal signal intensity for unmyelinated white matter. There is a periventricular rim of low signal intensity on T2-weighted images (arrows, A) and high signal intensity on T1-weighted images (arrows, B), with some extensions into the frontal white matter (arrowheads, A and B). The caudate nucleus and putamen have high signal intensity on T2-weighted images and are mildly swollen.
C and D, At the age of 3 months, a major increase in ventricular size is seen with extreme thinning of the posterior cerebral mantle. The frontal white matter has a more abnormal signal intensity than the occipital white matter, appears markedly swollen, and shows early cystic degeneration (arrows, D). There is a thin periventricular rim of low signal intensity on T2-weighted images (arrows, C). The basal ganglia are now markedly atrophic. After contrast administration, enhancement occurs in the ventricular lining, caudate nucleus, putamen, frontal white matter, and parts of the frontal cortex (D).
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FIG 4. Early MR imaging studies in a patient with presumed juvenile Alexander disease, obtained at the age of 4 years.
A and B, Extensive cerebral white matter abnormalities are seen on these T2-weighted images (B), with sparing of the occipital U fibers (arrows, B). The signal abnormality is more pronounced in the frontal than in the occipital white matter. There is an irregular periventricular rim of low signal intensity (arrowheads, B). The basal ganglia and thalamus have a mildly increased signal intensity. Within the posterior fossa, signal abnormalities are seen in the central part of the medulla, the hilus of the dentate nucleus, and the cerebellar hemispheric white matter, characteristically with the normal dentate nucleus prominently visible in between (A).
FIG 5. Contrast-enhanced MR image in a patient with presumed juvenile Alexander disease, obtained at the age of 12 years. Note enhancement of the intraparenchymal trajectory of the fifth cranial nerve on both sides
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FIG 6. Late MR imaging study of a patient with presumed juvenile Alexander disease, obtained at the age of 10 years.
A and B, There is extensive white matter involvement with frontal preponderance (A). The basal ganglia are dark and atrophic on T2-weighted images (A). A thin periventricular rim of low signal intensity is just visible (arrows, A). After contrast administration, enhancement of the entire cerebellar surface and dentate nucleus is seen (B).
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