J Mov Disord.  2017 Jan;10(1):59-61. 10.14802/jmd.16050.

Suspected Perinatal Depression Revealed to be Hereditary Diffuse Leukoencephalopathy with Spheroids

• Blume J
• Weissert R

• KMID: 2367610
• DOI: http://doi.org/10.14802/jmd.16050

Abstract

Early motor symptoms of neurodegenerative diseases often appear in combination with psychiatric symptoms, such as depression or personality changes, and are in danger of being misdiagnosed as psychogenic in young patients. We present the case of a 32-year-old woman who presented with rapid-onset depression, followed by a hypokinetic movement disorder and cognitive decline during pregnancy. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor gene, which led to the diagnosis of hereditary diffuse leukoencephalopathy with spheroids. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is probably an under-recognized disease. HDLS should be considered in patients with rapidly progressing parkinsonian symptoms and dementia accompanied by white matter lesions.

Keyword

Hereditary diffuse leukoencephalopathy with spheroids; parkinsonism; leukoencephalopathy; colony-stimulating factor 1 receptor

MeSH Terms

Adult
Dementia
Depression*
Diagnosis
Female
Genetic Testing
Humans
Leukoencephalopathies*
Macrophage Colony-Stimulating Factor
Movement Disorders
Neurodegenerative Diseases
Parkinsonian Disorders
Pregnancy
White Matter
Macrophage Colony-Stimulating Factor