Leukoencephalopathies Associated with Macrocephaly

Deborah L. Renaud

doi:10.1055/s-0032-1306384

Seminars in Neurology, Table of Contents

Semin Neurol 2012; 32(01): 034-041
DOI: 10.1055/s-0032-1306384

Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Leukoencephalopathies Associated with Macrocephaly

Authors

Deborah L. Renaud

¹Departments of Neurology and Pediatrics, Mayo Clinic, Rochester, Minnesota

Abstract

Macrocephaly, enlarged head size, can be seen in a wide range of conditions including hydrocephalus and genetic syndromes. Benign familial macrocephaly may be seen in multiple generations and is not associated with neurologic concerns. When macrocephaly is seen in conjunction with abnormal white matter on neuroimaging, specific genetic leukoencephalopathies should be considered, including Alexander's disease, Canavan's disease, childhood ataxia with central hypomyelination/ vanishing white matter disease (CACH/VWMD), glutaric aciduria type I, L2-hydroxyglutaric aciduria, and megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Keywords

leukoencephalopathy - leukodystrophy - macrocephaly - megalencephaly

Full Text

References

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