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Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids
Marie Meyer-Ohlendorf1, Anne Braczynski2, Omar Al-Qaisi3
1Department of Neurology, Goethe University Hospital, Frankfurt, Germany. Marie.Meyer-Ohlendorf@kgu.de.
BMC Neurology
|July 5, 2015
Summary
Hereditary diffuse leukodystrophy with spheroids, a rare microgliopathy, presents with white matter lesions and restricted diffusion on MRI. Recognizing these features aids in diagnosing this underdiagnosed condition.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Hereditary diffuse leukodystrophy with spheroids (HDLS) is a rare leukoencephalopathy.
- Mutations in the colony stimulating factor 1 receptor gene (CSF1R) cause this microgliopathy.
- Clinical and radiological features can be misleading, leading to underdiagnosis.
Observation:
- A 29-year-old woman presented with rapid cognitive decline and motor dysfunction.
- MRI revealed white matter lesions with restricted diffusion, particularly in the corticospinal tract and corpus callosum.
- The striking restricted diffusion prompted a literature search that identified HDLS.
Findings:
- HDLS can manifest as spotted or confluent leukoencephalopathy.
- Areas of restricted diffusion are a key radiological finding in HDLS.
- Genetic testing and stereotactic biopsy confirmed the diagnosis in this case.
Implications:
- Identifying characteristic MRI findings, such as restricted diffusion, can improve HDLS diagnosis.
- The rapid clinical course and pronounced restricted diffusion may indicate acute disease progression.
- Increased awareness and diagnostic accuracy for HDLS are crucial for patient management.
