Etiology of stroke and dementia in young adults are challenging clinical problems, and these diseases often have devastating consequences. We present a case where a final etiologic diagnosis is not possible, in spite of an exhaustive study.
A 34-year-old man presented with a 5-year history of transient neurological deficits. Examination disclosed a cortico-subcortical dementia, but no other deficits. Laboratory evaluation was unremarkable, including the basic vascular study, homocystein, immunologic study, ACE, serology for
Lyme, syphilis and HIV, tests for mitochondrial cytopathy, CADASIL and Fabry’s
disease, and CSF study. Prothrombotic study was normal except for a heterozygous mutation for factor V Leiden and for methylene tetrahydrofolate reductase. Cardiac exams (electrocardiogram, transesophagic echocardiography and 24 h-ECG) were normal. Cervical and transcranial duplex ultrasound and magnetic resonance angiography (MRA)-were normal, except for a hypoplasic right vertebral artery. Brain magnetic resonance imaging revealed corticosubcortical atrophy and multiple infarcts. The patient was prescribed antiplatelet and statin therapy, and is presently clinically stabilized after 3 years of follow-up, scoring 2 in modified Rankin scale.
Differential diagnosis of young onset vascular dementia is wide, including a number of rare sporadic and hereditary diseases. Although our case has a heterozygotic mutation for factor V Leiden, this might not explain the whole clinical picture; furthermore, there is no history of other vascular events, as venous thrombosis. An extensive investigation did not lead to a final etiological diagnosis. Nevertheless, even in these cases prevention with antiplatelet and statin might lead to clinical stabilization.