Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids
Josefine Blume1, Robert Weissert1
1Department of Neurology, University of Regensburg, Regensburg, Germany.
Journal of Movement Disorders
|January 27, 2017
Summary
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) can mimic psychiatric disorders in young adults. Early diagnosis is crucial for patients presenting with parkinsonian symptoms, dementia, and white matter lesions.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Neurodegenerative diseases may present with combined psychiatric and motor symptoms.
- Misdiagnosis as psychogenic disorders is a risk, especially in younger patients.
- Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an under-recognized condition.
Purpose of the Study:
- To highlight the diagnostic challenges of HDLS.
- To present a case of HDLS with atypical onset during pregnancy.
- To emphasize the importance of considering HDLS in specific clinical presentations.
Main Methods:
- Case report of a 32-year-old woman.
- Clinical evaluation including psychiatric and neurological assessments.
- Genetic testing for mutations in the colony-stimulating factor 1 receptor gene.
Main Results:
- The patient exhibited rapid-onset depression, hypokinetic movement disorder, and cognitive decline during pregnancy.
- Genetic analysis identified a mutation in the colony-stimulating factor 1 receptor gene.
- Diagnosis of hereditary diffuse leukoencephalopathy with spheroids (HDLS) was confirmed.
Conclusions:
- HDLS should be considered in young patients with rapidly progressing parkinsonian symptoms and dementia.
- White matter lesions are a key radiological finding in HDLS.
- Prompt genetic testing can aid in the diagnosis of this under-recognized disease.
