092 Early-onset dementia with white matter changes
| Autor: | Jono Baskin, Benjamin P. Trewin, Stanley Levy, Laveniya Satgunaseelan |
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| Rok vydání: | 2018 |
| Předmět: | |
| Zdroj: | ResearcherID |
| ISSN: | 1468-330X 0022-3050 |
| Popis: | IntroductionWe report a rare case of early-onset dementia with leukoencephalopathy in which the diagnosis was unclear until autopsy. As previously seen in case reports of this condition, there were a number of working diagnoses made, prefixed with ‘atypical’, including cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and Huntington disease.1CaseA sixty-one-year old Caucasian female initially presented with 2 years of progressive chorea of her right upper limb, anxiety and memory difficulties. These symptoms steadily progressed over the next 5 years as she developed dementia and a progressive gait disturbance with pyramidal weakness. In the terminal stages of her illness, at sixty-six years of age, she had recurrent hospital admissions for pyrexia of unknown origin and finally refractory seizures and death. Her serum investigations were non-diagnostic; she was negative for both CADASIL and Huntington disease mutations. Her MRI demonstrated diffuse confluent white matter changes involving the corpus callosum and the vermis. She also had an abnormal electroencephalogram late in the course of her disease, with lateralised periodic discharges recorded during episodes of non-convulsive status epilepticus. Her autopsy revealed a leukoencephalopathy with pathognomonic histologic features of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Post-mortem genetic testing is currently underway.ConclusionOur case demonstrates the possibility of establishing an accurate diagnosis with pathology and genetic testing in cases of early-onset dementia with white matter changes. Recently elucidated entities offer diagnostic closure to patients, families and clinicians and can inform prognosis and genetic counselling. Furthermore, potential therapeutic options for leukodystrophies appear to be on the horizon.2 Our case report is the first to our knowledge to present with chorea and to exhibit vermian hyperintensity on T2-weighted MRI.References. Meyer-Ohlendorf M, Braczynski A, Al-Qaisi O, et al. Comprehensive diagnostics in a case of hereditary diffuse leukodystrophy with spheroids. BMC Neurology2015;15:103.. van der Knaap MS, Wolf NI, Heine VM. Leukodystrophies: Five new things. Neurol Clin Pract2016;6:506–514. |
| Databáze: | OpenAIRE |
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