Megalencephalic leukoencephalopathy with subcortical cysts
ICD-10 G93.42 is a billable code used to indicate a diagnosis of megalencephalic leukoencephalopathy with subcortical cysts.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder characterized by abnormal brain development, particularly an enlarged brain (megalencephaly) and the presence of cysts in the subcortical white matter. This condition typically manifests in infancy or early childhood and is associated with a range of neurological symptoms, including developmental delays, cognitive impairment, and motor dysfunction. Patients may experience seizures, spasticity, and varying degrees of intellectual disability. The presence of subcortical cysts can lead to complications such as hydrocephalus, which is an accumulation of cerebrospinal fluid in the brain, potentially increasing intracranial pressure. Autonomic dysfunction may also occur, affecting bodily functions such as heart rate and blood pressure regulation. The diagnosis is often confirmed through neuroimaging techniques like MRI, which reveal characteristic findings of megalencephaly and cystic changes. Genetic testing may also be utilized to identify mutations associated with the disorder. Management is symptomatic and supportive, focusing on rehabilitation therapies and addressing specific symptoms as they arise.
Detailed neurological examination findings, imaging results, and genetic testing reports.
Patients presenting with developmental delays, seizures, or abnormal neuroimaging findings.
Ensure comprehensive documentation of neurological deficits and any interventions provided.
Genetic testing results, family history, and detailed patient history.
Patients with a family history of neurological disorders or unexplained developmental delays.
Document the specific genetic mutations identified and their implications for treatment.
Used to confirm diagnosis of MLC and assess for complications.
Document indication for MRI, findings, and relevance to diagnosis.
Neurology specialists should ensure imaging correlates with clinical findings.
Common symptoms include developmental delays, seizures, cognitive impairment, and motor dysfunction. Patients may also exhibit spasticity and signs of hydrocephalus.
