An early diagnosed cerebral small vessel disease in a 12-year-old girl.

ABSTRACT

Cerebral small vessel disease (CSVD) is a leading cause of ischaemic and haemorrhagic stroke and a major contributor to dementia. It occurs mostly in adult patients, rarely in children. COL4A1 is a candidate gene in monogenic CSVD with a wide clinical and neuroimaing spectrum. Here we presented a 12-year-old girl with recurrent dizziness, mild learning difficulties and inability to concentrate, the brain MRI showed diffuse periventricular leukoencephalopathy, lacunes in bilateral centrum semiovale, periventricles and basal ganglia, dilated perivascular spaces in bilateral basal ganglia with brain MRA and MRV were normal, highly mimicked the neuroimaging of CSVD regardless of the young age and no episodes of cerebrovascular events for now. We found no vascular risk factors and excluded other diseases such as primary angitis of central nervous system (PACNS). Then a trio-whole exome sequencing was performed. We found a de novo variant of COL4A1 gene c.2662G>A (p.Gly888Arg). She was finally diagnosed as a MRI-defined covert CSVD case. Though there are no specific treatments, with the very early diagnosis in our patient, excessive physical activity, trauma, anticoagulant therapy should be avoided for possible strokes in her future life. Therefore, genetic screening should be considered in familial cases and also in sporadic cases even in pediatric patients when the brain MRI showed diffuse periventricular leukoencephalopathy, dilated perivascular spaces, as well as microhemorrhage, and deep intracerebral hemorrhages, associated with early onset ischemic strokes or not.