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NEUROLOGY 2007;69:166-171
© 2007 American Academy of Neurology

Hypomyelination with atrophy of the basal ganglia and cerebellum

Follow-up and pathology

M. S. van der Knaap, MD, PhD, T. Linnankivi, MD, A. Paetau, MD, A. Feigenbaum, MD, K. Wakusawa, MD, K. Haginoya, MD, W. Köhler, MD, M. Henneke, MD, A. Dinopoulos, MD, PhD, P. Grattan-Smith, MD, K. Brockmann, MD, R. Schiffmann, MD and S. Blaser, MD

From the Department of Child Neurology (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; Department of Pediatric Neurology (T.L.), Hospital for Children and Adolescents, Helsinki University, and Department of Pathology (A.P.), Helsinki University Central Hospital, Finland; Clinical and Metabolic Genetics (A.F.) and Department of Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics (K.W., K.H.), Tohoku University School of Medicine, Sendai, Japan; Department of Neurology (W.K.), Sächsisches Krankenhaus Hubertusburg, Wermsdorf, and Department of Pediatrics and Pediatric Neurology (M.H., K.B.), Georg August University, Göttingen, Germany; Department of Pediatric Neurology (A.D.), Cincinnati Children's Hospital Medical Center, OH; Department of Neurology (P.G.-S.), Sydney Children's Hospital, Randwick, Australia; and Developmental and Metabolic Neurology Branch (R.S.), National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD.

Address correspondence and reprint requests to Dr van der Knaap, Department of Child Neurology, VU University Medical Center, P.O. Box 7057, 1007 MB Amsterdam, the Netherlands ms.vanderknaap{at}vumc.nl

Background and objective: Hypomyelination with atrophy of the basal ganglia and cerebellum is a recently defined disorder. Only a few patients have been described. We report on 11 additional patients and new MRI findings and provide histopathologic confirmation of the MRI interpretation.

Methods: We reviewed the patients' clinical history and present findings. We scored the MRI abnormalities. The histopathology of one patient was re-examined.

Results: The patients' early psychomotor development was normal or delayed, followed by increasing extrapyramidal movement abnormalities, ataxia, and spasticity. Mental capacities were variably affected. MRI showed hypomyelination with, on follow-up, evidence of further myelin loss and variable white matter atrophy. The putamen was small or, more often, absent; the head of the caudate nucleus was decreased in size. In contrast, the thalamus and globus pallidus remained normal. Cerebellar atrophy was invariably present. Histopathology confirmed the myelin deficiency, probably related to both lack of deposition and low-grade further loss. The degeneration of putamen was subtotal. The cerebellar cortex was affected, particularly the granular layer.

Conclusion: Hypomyelination with atrophy of the basal ganglia and cerebellum is a syndrome diagnosed by distinctive MRI findings. Histopathology confirms hypomyelination, low-grade further myelin loss, subtotal degeneration of the putamen, and cerebellar cortical atrophy. All known patients are sporadic, and the mode of inheritance is unclear.

Supplemental data at www.neurology.org

Disclosure: The authors report no conflicts of interest.

Received July 17, 2006. Accepted in final form February 20, 2007.






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