Dynamic analysis of CSF1R-related leukoencephalopathy on magnetic resonance imaging: a case report

Autor: Huasheng Huang, Hong Chen, Liming Cao
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
Externí odkaz:
Nepřihlášeným uživatelům se plný text nezobrazuje