Dementia is relatively frequent after a clinical first stroke in persons younger than 80 years, and aphasia is very often associated with poststroke dementia. If aphasic patients are not considered, it may be necessary to screen a very large number of subjects to collect an adequate sample of demented cases.

We report a 9‐year‐old girl with hypotonia, severe motor delay, absent speech, and facial dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio‐based whole exome sequencing (WES) analysis detected a de novo heterozygous mutation in the BRAF gene leading to the diagnosis of an atypical presentation of cardiofaciocutaneous (CFC) syndrome. This is the second case of CFC syndrome complicated with acute encephalopathy reported in the literature and supports the hypothesis that acute encephalopathy might be one of the complications of the syndrome due to an intrinsic susceptibility to this acute event. The report furthermore highlights the role of WES in providing a fast diagnosis in patients in critical conditions with atypical presentation of rare genetic syndromes.

Cerebral venous and dural sinus thrombosis (CVDST) is a rare cause of stroke in young and middle-aged adults. When the clinical course is complicated by uncontrollable intracranial hypertension and brainstem compression due to edema or cerebral hemorrhage, the prognosis is poor. The authors evaluated the therapeutic role of surgical decompression in patients with clinical signs of impending herniation. Cerebral venous and dural sinus thrombosis complicated by impending brain herniation a very rare, life-threatening but potentially treatable clinical condition. Three patients with pupillary signs of transtentorial herniation due to brain edema and hemorrhage caused by CVDST (superior sagittal sinus in 1 patient and transverse and sigmoid sinus in 2 patients) were treated surgically. The intervention consisted of clot removal, infarcted tissue resection, and frontotemporoparietooccipital craniectomy with duraplasty. According to the Glasgow Outcome Scale, 2 patients were classified as having good recovery and 1, moderate disability. The results of neuropsychological assessment were normal in 2 patients and demonstrated a partial neuropsychological deficit (neglect) in the other. Surgery may be indicated in selected patients with CVDST whose condition is deteriorating because of intractable intracranial hypertension and impending brain herniation.

Our data suggest that recurrence of stroke is a major clinical problem also for the patients aged less than 45 years and that it might be more frequent with specific clinical syndromes and etiologic subtypes of first stroke.