1/8. Aicardi-Goutieres syndrome: a genetic microangiopathy?Aicardi-Goutieres syndrome (AGS) (McKusick 225750) is an autosomal recessive disease with onset in the 1st year of life, resulting in progressive microcephaly, calcification of cerebral white matter, thalamus and basal ganglia, generalized cerebral demyelination and a chronic low-grade CSF lymphocytosis, without evidence of infection. We report the autopsy of a patient who died with this disorder at the age of 17 years. Findings were severe microencephaly, diffuse but inhomogeneous cerebral white matter loss with associated astrocytosis, calcific deposits in the white matter, thalami and basal ganglia. neocortex and cerebellar cortex were affected by wedge-shaped microinfarctions. Small vessels showed calcification in the media, adventitia and perivascular spaces. These findings are similar to some previous publications that in retrospect may have been AGS, but this is the first reported cerebral microangiopathy in which the diagnosis AGS was made during lifetime. This report provides evidence that microangiopathy plays a significant role in the pathogenesis of AGS.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/8. A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation.Chorioretinal and retinal anomalies, among others, have been described in association with true autosomal recessive microcephaly. Accompanying hypertrophy of retinal pigment epithelium has been described in association with Gardner's syndrome. We present the cases of three siblings (two boys and one girl) with true autosomal recessive microcephaly without mental retardation and without associated systemic anomalies who showed hypertrophy of the retinal pigment epithelium similar to that described in Gardner's syndrome. In the boys, these spots were located on a background of fine variations in pigment, with scattered depigmented atrophic areas revealing the sclera in the peripheral and midperipheral fundus. Superadded white spots were located in front of the retinal vessels. The younger boy also had discrete patches of chorioretinal atrophy of 0.5 to 1 disc diameter. The girl, in addition to the hyperpigmented spots, had a diffuse area of chorioretinal atrophy. The anomalies described above suggest that congenital hypertrophy of the retinal pigment epithelium is not unique to Gardner's syndrome.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/8. Congenital microcephaly due to vascular disruption: in utero documentation.death in utero of one member of a monozygotic twin pair has been associated with vascular disruptive phenomena in the surviving twin. It has been hypothesized that this event initiates clot formation in the surviving twin with consequent necrosis of tissues distal to the occluded vessels. This case report describes onset in utero of multicystic encephalomalacia and microcephaly in a surviving twin whose brain appeared normal on ultrasound scanning before death of the cotwin at 21 weeks' gestation. The case provides further support for the hypothesized pathogenetic sequence and illustrates the importance of reviewing all prenatal ultrasound scans in infants with congenital microcephaly.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/8. Neuroradiologic evaluation of the subdural pathogenesis in infants with small heads.A marginal low density area is often revealed by CT scan in infants with microcephalia. However, it is difficult to assess precisely the main pathologic state of the marginal low density area and also whether such a lesion exists in the subdural-epiarachnoid space or in the subarachnoid space. A carotid angiographic evaluation of cortical vessels in the marginal avascular area was made and suggestive results were obtained. When there is acute subdural effusion or subdural hematoma, cortical arteries in the marginal avascular area will have a straightened and attenuated figure. But when such a pathologic state persists for a long period, it induces secondary cortical atrophy and the subarachnoid space becomes enlarged. The cortical artery appears as if it is flying in the enlarged subarachnoid space because it is detached from the gyrus and the sulcus following the cortical atrophy. This is why we named it the 'flying artery.' Angiographic findings allow more precise interpretation of the marginal low density area in the CT scan.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/8. On the association of poland anomaly and primary microcephaly.In this report we describe a moderately mentally retarded female child with the association of poland's anomaly and primary microcephaly with marked neuronal migration disturbances, cortical atrophy and white substance hypoplasia. This observation further supports the suggestion that the subclavian artery supply disruption sequence may be part of a broader event of interruption of the early embryonic blood supply also involving the cerebral arterial vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/8. Nonimmune hydrops fetalis, hydramnios, microcephaly, and intracranial meningeal hemangioendothelioma.Necropsy findings in a male stillborn at 31 weeks gestational age included nonimmune hydrops, hydramnios, and microcephaly secondary to a hemangioendotheliomatous malformation at the tentorium. The vascular lesion was composed by large and small tortuous endothelium-lined vessels and leiomuscular septa. The lesion is thought to be related to the more frequent arteriovenous malformation of the vein of Galen.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/8. On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association.We describe a male child with prenatal growth retardation, true microcephaly, pedal lymphoedema and characteristic ocular anomalies. Ophthalmological examination revealed remnants of the posterior hyaloidea, more pronounced in the right eye where a retinal fold extended from the papilla into the vitreum, chorioretinal dysplasia with narrow retinal vessels, multiple large round areas of chorioretinal atrophy and atrophic papillae. The associations "microcephaly-chorioretinal dysplasia", "microcephaly-retinal folds" and "microcephaly-lymphoedema" have been reported as separate autosomal dominant conditions. The findings in the present child suggest that these associations could be variable expressions of the same autosomal dominant condition.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
8/8. prenatal diagnosis of microcephaly assisted by vaginal sonography and power Doppler.In two mid-trimester fetuses with microcephaly, transvaginal sonography revealed aberrant findings, including large subarachnoid spaces and a rudimentary shape of the lateral ventricles. In one of these fetuses, power Doppler ultrasound demonstrated a discrepancy in the size of the signals generated by the intracranial arteries branching from the internal carotids and those branching from the vertebral arteries, and this was interpreted as the consequence of a reduced blood supply to the undersized cerebral hemispheres. We suggest that evaluation of intracranial anatomy by transvaginal sonography and power Doppler examination of the cerebral vessels may be of value in the diagnosis of fetal microcephaly.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |