Adult-onset leukodystrophy with axonal spheroids
ICD-10 G93.44 is a billable code used to indicate a diagnosis of adult-onset leukodystrophy with axonal spheroids.
Adult-onset leukodystrophy with axonal spheroids is a rare neurodegenerative disorder characterized by the progressive degeneration of white matter in the brain, leading to a variety of neurological symptoms. This condition typically manifests in adulthood, often after the age of 30, and is associated with the presence of axonal spheroids, which are abnormal accumulations of axonal material. Patients may experience a range of symptoms including cognitive decline, motor dysfunction, and sensory disturbances. Pain syndromes can arise due to neuropathic changes, while autonomic disorders may lead to dysregulation of bodily functions such as heart rate and blood pressure. Hydrocephalus, or the accumulation of cerebrospinal fluid in the brain, can also occur as a secondary complication due to the disruption of normal brain architecture. The clinical presentation can vary widely among individuals, making diagnosis challenging. MRI findings typically reveal white matter changes, and genetic testing may be necessary to confirm the diagnosis. Management is symptomatic and supportive, focusing on improving quality of life and addressing specific symptoms.
Detailed neurological examination findings, imaging results, and symptom progression notes.
Patients presenting with cognitive decline, motor weakness, or sensory disturbances.
Ensure comprehensive documentation of neurological assessments and any genetic testing performed.
Genetic testing results, family history, and any relevant genetic counseling notes.
Patients with a family history of leukodystrophies or unexplained neurological symptoms.
Document the rationale for genetic testing and any findings that support the diagnosis.
Used to assess cognitive function in patients with suspected leukodystrophy.
Document the rationale for testing and results.
Neurologists should ensure comprehensive cognitive assessments are included.
Common symptoms include cognitive decline, motor dysfunction, sensory disturbances, and autonomic dysregulation. Patients may also experience pain syndromes due to neuropathic changes.
