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. 2002 Oct;23(9):1466-74.

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum

Marjo S van der Knaap  1 , SakkuBai Naidu, Petra J W Pouwels, Simona Bonavita, Rudy van Coster, Lieven Lagae, Jürgen Sperner, Robert Surtees, Raphael Schiffmann, Jakob Valk
Affiliations

New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum

Marjo S van der Knaap et al. AJNR Am J Neuroradiol. 2002 Oct.

Abstract

Background and purpose: Leukoencephalopathies of unknown origin constitute a considerable problem in child neurology. The purpose of our ongoing study of the subject was to define new disease entities among them by using primarily MR imaging pattern recognition.

Methods: We identified seven unrelated patients with a distinct MR imaging pattern consisting of hypomyelination and atrophy of the basal ganglia (neostriatum) and cerebellum (H-ABC). We reviewed the clinical, MR imaging, MR spectroscopic, and laboratory data.

Results: Clinically, the patients' diseases were characterized by variably disturbed early development followed by increasing extrapyramidal movement abnormalities, ataxia, and spasticity. Mental capacity was variably affected, but it appeared to be relatively preserved. Parents were not related, and none of their siblings were affected. No metabolic defect was found. Follow-up MR imaging demonstrated atrophy of the cerebral white matter, neostriatum, and cerebellum, which was most pronounced in the most clinically severe cases. Single-voxel proton MR spectroscopic results were normal in the parietal cortex. In the cerebral white matter, myo-inositol and creatine levels were elevated; this finding was compatible with gliosis. N-acetylaspartate and choline levels were normal, suggesting that neither axonal loss nor active demyelination occurred. Proton MR spectroscopic imaging revealed relatively decreased N-acetylaspartate levels in the frontal region.

Conclusion: The uniform and highly characteristic MR imaging findings, in combination with the similarities in the clinical findings, provide evidence of a distinct nosologic entity. The acronym H-ABC is offered to indicate patients sharing these clinical and MR imaging features.

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Figures

F<sc>ig</sc> 1.
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.
F<sc>ig</sc> 2.
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.
F<sc>ig</sc> 3.
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.
F<sc>ig</sc> 4.
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).
F<sc>ig</sc> 5.
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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