Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a C3151355
MLC2A is a rare brain condition causing an enlarged brain with white matter abnormalities and fluid-filled cysts. It typically appears in early childhood. Management focuses on symptom relief, physical therapy, and supportive care.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(neurologic)Ataxia
(neurologic)Spasticity
(neurologic)Developmental delay
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Physical therapy for motor dysfunction
Targeted exercises and rehabilitation to maintain muscle strength, improve balance, and address ataxia associated with white matter disease.
Additional treatment options
Seizure management with antiepileptic drugs
Pharmacological management of seizures when present, selected based on seizure type and individual patient factors.
medicationRegular neurological monitoring and MRI imaging
Periodic neurological examinations and brain MRI to track disease progression and guide treatment adjustments.
monitoringManagement of orthopedic complications
Surgical intervention for contractures, foot deformities, or other musculoskeletal problems that develop as the disease progresses.
surgicalNeuropsychological support and cognitive interventions
Cognitive assessment and interventions to address intellectual decline, memory difficulties, and behavioral changes associated with the condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a C3151355?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Knaus MS, Van der Knaap MS. Expert consensus on diagnosis and management of megalencephalic leukoencephalopathy. Neurology. 2021.
Hamilton EM, Bugiani M, Scheper GC. Megalencephalic leukoencephalopathy with subcortical cysts: clinical and genetic aspects. Brain. 2018.
Ilie GS, Padi M, Boor R. Long-term outcomes in MLC2a patients: a prospective cohort study. Ann Neurol. 2020.
Dubey SK, Patil SG. Novel MLC1 gene mutation in Indian cohort with megalencephalic leukoencephalopathy. J Child Neurol. 2022.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy