Dynamic analysis of CSF1R-related leukoencephalopathy on magnetic resonance imaging: a case report
Autor: | Huasheng Huang, Hong Chen, Liming Cao |
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Jazyk: | angličtina |
Rok vydání: | 2021 |
Předmět: |
Adult
Male Pathology medicine.medical_specialty Heterozygote Ataxia Magnetic Resonance Spectroscopy Mutation Missense Pyramidal Tracts Corpus callosum Colony-stimulating factor 1 receptor lcsh:RC346-429 030218 nuclear medicine & medical imaging Corpus Callosum White matter Leukoencephalopathy 03 medical and health sciences 0302 clinical medicine Magnetic resonance imaging Leukoencephalopathies Case report Medicine Humans Cognitive decline lcsh:Neurology. Diseases of the nervous system medicine.diagnostic_test business.industry Progressive leukoencephalopathy Parkinsonism Siblings Brain General Medicine medicine.disease White Matter medicine.anatomical_structure Receptors Granulocyte-Macrophage Colony-Stimulating Factor Mutation Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
Zdroj: | BMC Neurology, Vol 21, Iss 1, Pp 1-6 (2021) BMC Neurology |
ISSN: | 1471-2377 |
Popis: | Background Colony-stimulating factor 1 receptor (CSF1R)-related leukoencephalopathy is a rare and rapidly progressive leukoencephalopathy characterized by cognitive, motor, and neuropsychiatric symptoms, which is often misdiagnosed. Magnetic resonance imaging (MRI) signs and follow-up MRI of CSF1R-related leukoencephalopathy could help in establishing a diagnosis, but these features are not widely known by general neurologists. Case presentation A 34-year-old man was admitted for progressive weakness of the right limbs over 8 months. His father and sister had a similar clinical evolution. The primary neurological signs were hemiplegia, cognitive decline, dysarthria, pyramidal signs, ataxia and parkinsonism, and rapid disease progression. Cerebrospinal fluid analysis results were normal. Despite receiving treatment for improving cerebral metabolism and relieving the muscle spasm, his symptoms did not improve significantly. Brain MRI showed lesions concentrated in the corpus callosum and the deep white matter of the bilateral parieto-occipital lobes, periventricular areas, and corticospinal tracts. There was an enhanced lesion after a gadolinium-enhanced MRI scan. Over the 8-month progression, the lesions always exhibited restricted diffusion. The diffuse lesions gradually increased as the disease progressed. Genetic sequencing results showed a novel heterozygous missense mutation (c.2267 T > C p.L756P) in the CSF1R gene. The patient was treated with citicoline and idebenone for 4 days to improve cerebral metabolism, but his symptoms did not improve significantly. Conclusion The multiple lesions involving the pyramidal tract and white matter showed continuously restricted diffusion on brain imaging and gradually increased with disease progression. |
Databáze: | OpenAIRE |
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