Leukodystrophy with vanishing white matter disease
ICD-10 G11.6 is a billable code used to indicate a diagnosis of leukodystrophy with vanishing white matter disease.
Leukodystrophy with vanishing white matter disease (VWMD) is a rare genetic disorder characterized by the progressive degeneration of myelin, the protective sheath surrounding nerve fibers in the brain. This condition is primarily caused by mutations in the EIF2B genes, which play a crucial role in protein synthesis and cellular stress response. Clinically, VWMD typically presents in early childhood, with symptoms including ataxia, spasticity, cognitive decline, and seizures. As the disease progresses, patients may experience worsening motor function and developmental delays. The hallmark of VWMD is the loss of white matter on neuroimaging, which can be observed as a reduction in the volume of myelinated areas in the brain. Diagnosis is often confirmed through genetic testing and MRI findings. The condition is classified under leukodystrophies, which are a group of inherited disorders affecting the white matter of the brain, leading to various neurological deficits. Management is supportive, focusing on symptomatic treatment and rehabilitation to improve quality of life.
Comprehensive neurological assessments, including detailed history of symptoms, imaging results, and genetic testing outcomes.
Patients presenting with ataxia, spasticity, and cognitive decline requiring neurological evaluation.
Neurologists should ensure that all symptoms are documented clearly to support the diagnosis and coding.
Genetic test results, family history, and detailed patient history regarding symptom onset and progression.
Patients referred for genetic counseling and testing due to family history of leukodystrophies.
Geneticists must provide clear documentation of the genetic basis for the diagnosis to support coding.
Used when confirming diagnosis of VWMD through genetic testing.
Documentation of clinical symptoms and family history must accompany genetic test orders.
Geneticists should ensure that the rationale for testing is clearly documented.
Vanishing white matter disease is primarily caused by mutations in the EIF2B genes, which are essential for protein synthesis and cellular stress response.
Diagnosis is made through a combination of clinical evaluation, MRI findings showing loss of white matter, and genetic testing for EIF2B mutations.
