Biopsy histopathology in the diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).
Chenhui MaoLiangrui ZhouLixin ZhouYingmai YangJingwen NiuJie LiXinying HuangHaitao RenYanhuan ZhaoBin PengJing GaoPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)
Clinical manifestations include cognitive decline with/without psycho-behavior problems and movement disorders including paralysis, hemiplegia, parkinsonism, and pyramidal tract injury, as well as dysarthria, dysphagia, and sensory disturbances. MRI showed multiple periventricular and subcortical white matter lesions, involving the corpus callosum, with no enhancement, but with persistent hyperintensity on diffuse-weighted imaging. Histology showed widespread white matter damage and pale stain, especially destroyed axons with spheroids and funicular axons which were stained with neurofilament and ubiquitin. Foamy and pigmented macrophages were another typical change. CSF1R mutation was found in 4 of them. All of the patients were misdiagnosed and treated for a long time for multiple sclerosis, cerebral infarction, normal pressure hydrocephalus, etc. CONCLUSION: ALSP will cause rapidly progressing dementia with/without movement disorders in young adults. The definite diagnosis should be based on a comprehensive analysis of clinical manifestations, and neuroimaging, histology, and genetic results. Early biopsy will add to the accuracy of the diagnosis.
Keyphrases
- white matter
- multiple sclerosis
- cognitive decline
- mild cognitive impairment
- young adults
- end stage renal disease
- newly diagnosed
- cerebrospinal fluid
- contrast enhanced
- ultrasound guided
- spinal cord injury
- chronic kidney disease
- magnetic resonance imaging
- high resolution
- mental health
- magnetic resonance
- fine needle aspiration
- computed tomography
- genome wide
- dna methylation
- mass spectrometry
- drug induced
- photodynamic therapy
- patient reported outcomes
- patient reported
- fluorescence imaging