Subependymal Nodules
نویسندگان
چکیده
منابع مشابه
Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study.
Tuberous sclerosis complex (TSC) is caused by a mutation in the TSC1 or TSC2 genes. However, 15% of patients have no mutation identified. Tubers and subependymal nodules (SENs) are the typical brain lesions in TSC and are present in 90-95% of patients. The objective of this study is to characterize the specific genotype-phenotype of patients without these lesions. We analyzed the features of 11...
متن کاملAntenatal diagnosis of subependymal heterotopia.
Subependymal heterotopia consist of gray matter nodules along the lateral ventricular walls and are associated with epilepsy and other cerebral malformations. Some cases have an X-linked inheritance, and early antenatal diagnosis of affected fetuses is important for appropriate management. We present a case of heterotopia diagnosed by sonography and MR imaging at 23 weeks' gestation and discuss...
متن کاملSubependymal cysts in normal neonates.
We undertook a prospective ultrasound study of subependymal cyst formation in normal neonates. Twenty five of 500 normal Chinese neonates (5%) were found to have subependymal cysts. Most of these (18 of 25) showed no obvious perinatal insult. This study suggests a rather high incidence of concealed intrauterine subependymal haemorrhage in normal term neonates.
متن کاملErk activation as a possible mechanism of transformation of subependymal nodule into subependymal giant cell astrocytoma.
INTRODUCTION Subependymal nodule (SEN) and subependymal giant cell astrocytoma (SEGA) are brain lesions frequently found in tuberous sclerosis (TS). As about 10-15% of SENs enlarge and transform into SEGAs, we examined here the possible mechanism of the phenomenon. MATERIAL AND METHODS Using Western blot we studied 1 SEN and 3 SEGA samples; SEN and 1 SEGA came from the same TS patient. We eva...
متن کامل[Subependymal giant cell astrocytoma (tuberous sclerosis)].
Two cases of tuberous sclerosis with subependymal giant cell astrocytoma are presented. This rare autosomal dominant disorder was also detected in family members of the patients who had never had any symptoms of cerebral involvement. Both patients underwent surgery because of signs of increased intracranial pressure.
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurology and Medicine
سال: 2016
ISSN: 2472-100X
DOI: 10.4172/2472-100x.1000i101