Megalencephalic Leukoencephalopathy with Subcortical Cysts
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Learn About Megalencephalic Leukoencephalopathy with Subcortical Cysts

What is the definition of Megalencephalic Leukoencephalopathy with Subcortical Cysts?
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a condition that affects brain development and function. Individuals with this condition have an enlarged brain (megalencephaly) and an abnormality of the white matter in the brain (leukoencephalopathy). White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. In MLC, the myelin is swollen and contains numerous fluid-filled pockets (vacuoles). Over time, the swelling decreases and the myelin begins to waste away (atrophy). Leukoencephalopathy can lead to abnormal muscle tensing (spasticity), difficulty coordinating movements (ataxia), cysts in the brain (subcortical cysts), abnormal muscle tone (dystonia), swallowing difficulties, mild to moderate intellectual disabilities, speech difficulties, seizures, and difficulties walking. There are three types of MLC, which are distinguished by their signs and symptoms and genetic cause. Type 1 is caused by genetic changes in the MLC1 gene. Types 2A and 2B are caused by genetic changes in the HEPACAM gene. MLC types 1 and 2A are inherited in an autosomal recessive manner, while type 2B is inherited in an autosomal dominant manner. In some cases of MLC, the cause is unknown.
What are the alternative names for Megalencephalic Leukoencephalopathy with Subcortical Cysts?
  • Megalencephalic leukoencephalopathy with subcortical cysts
  • LVM
  • Leukoencephalopathy with swelling and cysts
  • MLC
  • Megalencephaly-cystic leukodystrophy
  • Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Who are the top Megalencephalic Leukoencephalopathy with Subcortical Cysts Local Doctors?
Elite in Megalencephalic Leukoencephalopathy with Subcortical Cysts
Raul Estevez
Elite in Megalencephalic Leukoencephalopathy with Subcortical Cysts
Raul Estevez
Madrid, MD, ES 

Raul Estevez practices practicing medicine in Madrid, Spain. Mr. Estevez is rated as an Elite expert by MediFind in the treatment of Megalencephalic Leukoencephalopathy with Subcortical Cysts. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Megalencephalic Leukoencephalopathy with Subcortical Cysts, CACH Syndrome, Increased Head Circumference, and Myotonia Congenita.

Elite in Megalencephalic Leukoencephalopathy with Subcortical Cysts
Marjo S. Van Der Knaap
Elite in Megalencephalic Leukoencephalopathy with Subcortical Cysts
Marjo S. Van Der Knaap
Amsterdam, NH, NL 

Marjo Van Der Knaap practices practicing medicine in Amsterdam, Netherlands. Ms. Van Der Knaap is rated as an Elite expert by MediFind in the treatment of Megalencephalic Leukoencephalopathy with Subcortical Cysts. She is also highly rated in 19 other conditions, according to our data. Her clinical expertise encompasses CACH Syndrome, Leukodystrophy, Megalencephalic Leukoencephalopathy with Subcortical Cysts, Metachromatic Leukodystrophy, and Bone Marrow Transplant.

 
 
 
 
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Elite in Megalencephalic Leukoencephalopathy with Subcortical Cysts
Marianna Bugiani
Elite in Megalencephalic Leukoencephalopathy with Subcortical Cysts
Marianna Bugiani

Amsterdam UMC

Amsterdam, NH, NL 

Marianna Bugiani practices practicing medicine in Amsterdam, Netherlands. Ms. Bugiani is rated as an Elite expert by MediFind in the treatment of Megalencephalic Leukoencephalopathy with Subcortical Cysts. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Megalencephalic Leukoencephalopathy with Subcortical Cysts, CACH Syndrome, Leukodystrophy, and Metachromatic Leukodystrophy.

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What are the latest Megalencephalic Leukoencephalopathy with Subcortical Cysts Clinical Trials?
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
Enrollment Status: Recruiting
Publish Date: October 23, 2025

Summary: The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects. The MDBP is one of the world's largest leukodystrophy biorepositories, having enrolled nearly 2,000 affected individuals since it was launched over a decade ago. Researchers working in the biorepo...

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center