De novo mutation in the NOTCH3 gene causing CADASIL.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is one of the most common hereditary forms of stroke, and migraine with aura, mood disorders and dementia. CADASIL is caused by mutations of the NOTCH3 gene. This mutation is inherited as an autosomal dominant trait. Most individuals with CADASIL have a parent with the disorder. In extremely rare cases, CADASIL may occur due to a spontaneous genetic mutation that occurs for unknown reasons (de novo mutation). We report a new case of patient with de novo mutation of the NOTCH3 gene and a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms.

Collet Sicard syndrome as atypical presentation of neck fibrosarcoma: a case report.

We report a 57 years old female patient with neck fibrosarcoma. Her main complaints consisted of hoarseness, difficulty swallowing, pain in the left side of her neck and left shoulder region, which all indicated the Collet Sicard syndrome, so the working diagnosis was glomus tumor. Diagnostic MSCT was used, and the characteristics of the radiologic finding did not indicate any of the paraganglioma types, although the tumor was localized in the area of the carotid bifurcation, demonstrating the signs of extension into the jugular foramen. The patient has been treated surgically in general anesthesia and pathologic diagnosis was fibrosarcoma.