New Syndrome Characterized by Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
Marjo S. van der Knaapa,
SakkuBai Naidud,
Petra J.W. Pouwelsb,
Simona Bonavitae,
Rudy van Costerg,
Lieven Lagaeh,
Jürgen Sperneri,
Robert Surteesf,
Raphael Schiffmannj and
Jakob Valkc
a the Department of Child Neurology, Free University Medical Center, Amsterdam, the Netherlands
b the Department of Clinical Physics and Informatics, Free University Medical Center, Amsterdam, the Netherlands
c the Department of Radiology, Free University Medical Center, Amsterdam, the Netherlands
d the Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD
e the Neuroimaging Branch, the National Institutes of Health, Bethesda, MD
f the Developmental and Metabolic Neurology Branch, the National Institutes of Health, Bethesda, MD
g the Department of Pediatric Neurology, Universitair Ziekenhuis C. Hooft, Gent, Belgium
h the Department of Pediatric Neurology, Universitair Ziekenhuis Gasthuisberg, Leuven, Belgium
i the Department of Pediatrics, Universitäts-klinikum, Lübeck, Germany
j the Department of Pediatric Neurology, Great Ormond Street Hospital, London, England
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FIG 1. MR images in a healthy 8-year-old boy.
A, Axial T2W image (3000/120). The myelinated white matter has low signal intensity. Note that the normal putamen is a large nucleus (arrowhead), whereas the normal globus pallidus is small (solidarrow). Also note the normal size of the head of the caudate nucleus (open arrow).
B, Sagittal T1W image (570/14). Note the normal size of cerebellar vermis and the corpus callosum.
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FIG 2. MR images in patient 1, who had disease with intermediate clinical severity.
A, Axial T2W image (3000/120), patient aged 18 months. The cerebral white matter contains little myelin. The putamen is mildly reduced in size (arrowhead). The thalamus, caudate nucleus, and globus pallidus (arrow) have a normal size.
B, Sagittal T1W image (570/14), patient aged 18 months. The cerebellar vermis is slightly atrophic.
C, Axial T2W image (3000/20, 60, 120), patient aged 6 years. At 6 years, the hypomyelination of the cerebral white matter is unchanged. The putamen is no longer visible. The head of the caudate nucleus is mildly reduced in size. The thalamus and globus pallidus (arrow) are normal.
D, Sagittal T1W image (570/14), patient aged 6 years. The cerebellar atrophy has increased.
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FIG 3. MR images in patient 5, who had severe clinical disease.
A, Axial T2W image (3000/120), patient aged 11 months. At 11 months, little evidence of myelin deposition is present. The thalamus has a normal size. The globus pallidus (arrow) is depicted at a slightly higher level than on the other images and is seemingly smaller, but it has a normal size on a lower section (not shown). No visible putamen is present, and the head of the caudate nucleus is small.
B, Sagittal T1W image (570/14), patient aged 11 months. The cerebellar vermis is slightly reduced in size.
C, Axial T2W image (3000/120), patient aged 11 years. At 11 years, the cerebral white matter still contains little myelin. The volume of the white matter has decreased considerably. The head of the caudate nucleus is no longer visible, whereas the globus pallidus (arrow) and thalamus appear to be of normal size.
D, Sagittal T1W image (570/14), patient aged 11 years. The cerebellar atrophy has progressed.
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FIG 4. Axial T2W images (3000/120) obtained through the brain stem in patient 7 at the age of 16 years.
A, Note the high signal intensity of the pyramidal tracts in the midbrain (arrow).
B, Note the high signal intensity of the pyramidal tracts in the pons (arrow).
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FIG 5. MR spectra in the parietal white matter (top row) and parietal cortex (bottom row) in patient 2 at age 7 years (left) compared with those in an age-matched control subject (right). All spectra are plotted on the same vertical scale to allow a qualitative comparison. Note the prominent increase in myo-inositol and Cr levels in the white matter, whereas the cortex spectrum is normal.
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