Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia presenting with acute stroke-like symptoms: A rare clinical scenario
| Autor: | Adeline S.L. Ng, Yih Yian Sitoh, Faisal Johandi, Bela Purohit, Carol Tham |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
lcsh:Medical physics. Medical radiology. Nuclear medicine
Pathology medicine.medical_specialty Young stroke lcsh:R895-920 Corpus callosum 030218 nuclear medicine & medical imaging White matter 03 medical and health sciences 0302 clinical medicine Cognitive dysfunction medicine Dementia Radiology Nuclear Medicine and imaging Cognitive decline Stroke ALSP business.industry Parkinsonism medicine.disease Hyperintensity CSF1R gene T2 white matter hyperintensity Hemiparesis medicine.anatomical_structure Neuroradiology medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Radiology Case Reports, Vol 15, Iss 10, Pp 1915-1920 (2020) Radiology Case Reports |
| ISSN: | 1930-0433 |
| Popis: | Adult-onset diffuse leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare progressive degenerative white matter disease caused by mutations in the colony-stimulating factor-1 receptor gene. Patients commonly present in the 4th or 5th decade with variable clinical presentations including behavioral changes, dementia, parkinsonism, and motor dysfunctions, eventually leading to death within a few years. Although the disease is typically hereditary, sporadic cases are known to occur. The classic MRI features of ALSP include T2 hyperintensities in the frontal and parietal white matter, scattered foci of restricted diffusion in the white matter, age-advanced cerebral involutional changes, thinning and signal changes in the corpus callosum, absence of infratentorial involvement and lack of enhancement. CT commonly shows tiny calcifications in the corpus callosum and deep white matter. We report a unique case of sporadic ALSP that initially presented as young stroke with acute onset of left-sided hemiparesis and no preceding history of cognitive decline. However, subsequent cognitive and behavioral changes lead to the consideration of an alternative diagnosis. Stroke-like symptoms is a very rare primary presentation of this disease entity. We have highlighted the classic MRI and CT features that helped to guide its diagnosis in our patient and prompted early corroborative genetic testing. |
| Databáze: | OpenAIRE |
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