Adult-Onset Leukoencephalopathy with Spheroids in a 30-Year-Old Female Presenting with 10 Years of Mood Disturbances and Memory Impairment
Brian Sacks1, Harry Zobel1, Dmitry Khaitov2
1Lehigh Valley Health Network, 2LVHN
Objective:
Discussion of Leukoencephalopathy-with-spheroids and relevant imaging on MRI
Background:

Leukoencephalopathy with spheroids is a rare disorder that typically presents with cognitive impairment with a median age between 40-50. It has MRI brain findings showing lesions in the bilateral white matter and corpus callosum with persistent positive diffusion. The CSF1R gene is one of many linked to hereditary leukoencephalopathies, however, symptoms can vary between cases. This case is a unique presentation of a young female who presented with concerns for memory changes for 10 years.

Design/Methods:
N/A
Results:

The patient was a 30-year-old female with a history of bipolar disorder who presented with worsening cognitive slowing and memory difficulties. A bedside cognitive test was done using the Montreal Cognitive Assessment, with a score of 20/30 indicating a mild cognitive impairment. Because of her memory concerns an MRI brain with and without contrast was ordered which revealed multiple lesions, including the corpus callosum, several of which were diffusion positive. No pathological enhancement was seen. Based on these findings, she was worked up for autoimmune demyelinating process, autoimmune encephalitis, and autoimmune vasculitis. However, serum and spinal fluid results were negative for an inflammatory process. She was treated for an underlying autoimmune vasculitis with high dose steroids and IVIG with plans to monitor for changes on MRI. Her repeat MRI brain  was done two months later, which continued to show areas of similar diffusion with no pathologic enhancement despite medications. A comprehensive genetic panel was done for concern for adult onset Leukodystrophy given the persistent diffusion positive lesions, which revealed a variant for CF14 Leukoencephalopathy.

Conclusions:

This case demonstrates rare imaging findings to help differentiate leukoencephalopathy with spheroids given its broad range of symptoms. It is important to note the continued diffusion restriction on MRI despite medical treatment, which can help rule out other etiologies.

10.1212/WNL.0000000000211147
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