Suspected Postpartum Depression Revealed to be CSF1R-Related Leukoencephalopathy: A Case Report

Area of Science:

• Neuroscience
• Genetics
• Psychiatry

Background:

• Postpartum depression (PPD) affects many women, often treated solely as a psychiatric condition.
• Atypical presentations of PPD, including cognitive decline, may indicate underlying organic causes.
• Colony-stimulating factor 1 receptor (CSF1R) mutations are linked to leukoencephalopathy, a rare neurological disorder.

Purpose of the Study:

• To report a case of PPD with cognitive decline associated with a CSF1R mutation.
• To highlight the importance of considering organic causes for PPD.
• To emphasize the potential under-recognition of CSF1R-related leukoencephalopathy in psychiatric practice.

Main Methods:

• Case presentation of a 32-year-old woman with PPD and cognitive decline.
• Cerebral MRI and CT scans to evaluate brain abnormalities.
• Genetic testing to identify mutations in the CSF1R gene.

Main Results:

• The patient exhibited symptoms of PPD, major melancholic depression, and mild cognitive decline.
• Brain imaging revealed white matter hyperintensities and calcifications.
• Genetic analysis confirmed a mutation in the CSF1R gene.

Conclusions:

• This case suggests a potential link between CSF1R mutations and PPD with cognitive symptoms.
• Brain imaging and genetic testing may be crucial in diagnosing atypical PPD cases.
• Further research is needed to elucidate the relationship between CSF1R signaling and mood disorders.