Megalencephalic leukoencephalopathy with subcortical cysts
Overview
Megalencephalic leukoencephalopathy with subcortical cysts: A very rare syndrome characterized mainly by a progressive brain destruction that causes mental retardation and incoordination that starts early in life.
Symptoms
The list of signs and symptoms mentioned in various sources for Megalencephalic leukoencephalopathy with subcortical cysts includes the 6 symptoms listed below: * Mental retardation * Enlarged brain * Cognitive impairment * Learning disability * Spasticity * Seizures
Diagnosis
Diagnosis/testing. The diagnosis of MLC is established in individuals with typical clinical findings and characteristic abnormalities observed on cranial MRI, including abnormal and swollen cerebral hemispheric white matter and presence of subcortical cysts in the anterior temporal region and often in the frontoparietal region. MLC1 is the only gene known to be associated with MLC. Sequence analysis detects mutations in approximately 60% to 70% of affected individuals. Such testing is clinically available.
Treatment
* Neurology (Brain/CNS Specialists): o Neurology (Brain/CNS Specialists) o Pediatric Neurology (Child Brain Specialist) o Pediatric Neurosurgery (Child Neurosurgeon) o Clinical Neurophysiology o Neurodevelopment Disabilities o Neurosurgery o Neuromusculoskeletal Medicine o Neuroradiology o Vascular Neurology o Neuropathology o Otology / Neurotology (Ear/Hearing Specialists)