BACKGROUND: Hereditary @entity8431 with spheroids is a rare type of @entity62 . Mutations in the @entity6823 have recently been identified to be the cause of this microgliopathy. Clinical and radiological presentation can often misguide physicians during the diagnosis of @entity1 with this underdiagnosed disease. CASE PRESENTATION: We present a 29  year-old @entity1 with a rapid course of @entity8431 with spheroids. She mainly showed @entity73 and severe @entity66 . Her MRI showed spotted and confluent hyperintensities of the white matter on T2-weighted images involving the corticospinal tract as well as the corpus callosum. Further, those lesions showed striking restricted diffusion. As this restricted diffusion in all areas showing signs of @entity62 was so impressive we searched Medline for these terms and got @entity8431 with spheroids as one of the first results. After a comprehensive diagnostic workup and exclusion of other @entity62 , stereotactic biopsy and genetic testing confirmed the diagnosis. CONCLUSION: This case points out at two important features of @entity8431 with spheroids being spotted and/or confluent @entity62 with areas of restricted diffusion. This might help to identify more @entity1 with this underdiagnosed disease. Moreover, the rapid clinical course in our @entity1 raises the question whether the relatively pronounced areas of restricted diffusion are indicative of a more acute progression of the disease.

Comprehensive diagnostics in a case of XXXX with spheroids.

@entity1 :: ('9606', 'Species') :: ['woman', 'patients', 'patient'] @entity66 :: ('MESH:D004194', 'Disease') :: ['motor dysfunctions'] @entity6823 :: ('1436', 'Gene') :: ['colony stimulating factor 1 receptor'] @entity73 :: ('MESH:D003072', 'Disease') :: ['cognitive impairment'] @entity8431 :: ('MESH:D007966', 'Disease') :: ['diffuse leukodystrophy', 'hereditary diffuse leukodystrophy'] @entity62 :: ('MESH:D056784', 'Disease') :: ['leukoencephalopathies', 'leukoencephalopathy']
@entity8431 :: (MESH:D007966,Disease) :: ['hereditary diffuse leukodystrophy']
