Megalencephalic leukoencephalopathy with subcortical cysts
Other Names for this Disease
- Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
- Megalencephaly-cystic leukodystrophy
- Leukoencephalopathy with swelling and cysts
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Megalencephalic leukoencephalopathy with subcortical cysts is a condition that affects brain development and function. Children with this condition have an enlarged brain (megalencephaly) that is evident at birth or within the first year of life. They also have an abnormality of the brain's white matter (leukoencephalopathy). The leukoencephalopathy may ultimately result in abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, speech difficulties, and seizures. Despite the brain abnormalities people with this condition tend to have only mild to moderate learning impairment. This condition may affect a child’s ability to walk, however some children are able to walk well into adulthood. It is important to protect people with MLC from even mild head trauma, because head trauma can cause further impairments and may lead to coma. This condition is genetic and is passed through families in an autosomal recessive pattern. It is most often caused by changes in the MLC1 gene.
Last updated: 6/4/2009
- Megalencephalic leukoencephalopathy with subcortical cysts. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition=megalencephalicleukoencephalopathywithsubcorticalcysts. Accessed 6/3/2009.
- The Children’s National Medical Center has developed an information page on white matter disease. Click on the link above to view this information page.
- The Cleveland Clinic has developed an information page on megalencephaly. Click on the link above to view this information page
- Genetics Home Reference (GHR) contains information on Megalencephalic leukoencephalopathy with subcortical cysts. This website is maintained by the National Library of Medicine.
- Medline provides a list of resources on leukodystrophies. MedlinePlus is a Web site designed by the National Library of Medicine to help you research your health questions.
- The National Institute of Neurological Disorders and Stroke (NINDS) provides more information on megalencephaly. NINDS collects and disseminates research information related to neurological disorders.
- The United Leukodystrophy foundation has developed an information page on van der Knapp syndrome. Click on the link above to view this information page.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Megalencephalic leukoencephalopathy with subcortical cysts. Click on the link to view a sample search on this topic.