A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family.

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a genetically determined disease of the cerebral vessels, characterized by recurrent ischemic strokes, dementia, and degeneration of the cerebral white matter. The condition is caused by a mutation in the NOTCH3 gene, whose product plays a great role in the development and physiology of the cardiovascular system. Magnetic resonance imaging reveals multiple hyperintensive lesions of the white matter in the T2-weighted images also in asymptomatic carriers of CADASIL and can be detected even 10-15 years prior to clinical signs. Diagnosis is confirmed by genetic testing. We present 2 patients (mother and daughter) carrying the same mutation p.Cys212Gly in 1 allele of the NOTCH-3 gene, which has not yet been recorded in the Human Gene Mutation Database for that gene and therefore described as a new one. The clinical manifestation of the disease differs between patients -the 63-year-old mother has been suffering from severe migraine headaches since her early youth and the first vascular event occurred when she was about 50 years old, she is now presenting with impaired cognitive functions, left facial palsy, bilateral pyramidal syndrome more prominent on the left side, and four-wheel support assisted walking. The neurological deficits that her 42-year-old daughter is afflicted with are discreet. Observation to date indicates a definitely less severe clinical course of the disease. This indicates that members of the same family carrying the same mutation may produce different clinical course of the disease.

Congenital optic disc cyst concomitant with persistent hyaloid artery--a case report.

The aim is to present a rare case of solitary malformation in the form of a congenital optic disc cyst concomitant with the persistent hyaloid artery. The intrabulbar congenital cyst of the optic disc partially covering the medial part of the disc was found in a 3-month old infant. B-San ultrasound confirmed the presence of the intrabulbar heterogeneous mass (7.0 x 2.5 x 5.4 mm) within the vitreous cavity and the concomitant persistent hyaloid artery was shown in Colour Doppler Imaging. The axial length of the involved eye was shorter than of the healthy one (16.68 mm vs. 18.42 mm). The magnetic resonance imaging of the head and orbits performed in the fast spin echo, spin echo and gradient echo sequences in T1 and T2-weighted scans revealed the intrabulbar cyst (7.0 x 2.5 x 6.4 mm), with sharp margins, whose lower part showed intense contrast enhancement. The pericerebral fluid spaces within the frontal and temporal lobes were dilated. Intrauterine toxoplasmosis, cytomegaly, protozoan and helminth infections as well as metabolic diseases were excluded. Patient leukocyte DNA RB1 gene sequencing and negative results of mutation searching excluded retinoblastoma. In a 2-year follow-up period, regression of the mass with the absence of ophthalmic complications was noted. An important reason for the authors to present the discussed case is possible permanent impairment of visual function in patients with similar presentation of congenital peripapillary lesions. congenital optic disc cyst, developmental anomalies of the optic disc, congenital ocular malformations.