1/5. Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye.OBJECTIVE: To report a child with Knobloch syndrome (KS) with features of persistent fetal vasculature (PFV) and to discuss the possible role of endostatin in vascular remodeling of the fetal eye. DESIGN: Case report with enzyme-linked immunosorbent assay (ELISA) analysis of serum endostatin. MAIN OUTCOME MEASURES: Ocular examination, fluorescein angiography, echography, ELISA analysis of serum endostatin, and typing for pathogenic mutations in COL18A1. RESULTS: Slit-lamp examination in the left eye disclosed numerous findings of PFV, including an extensive persistent pupillary membrane, scarcity of iris crypts, and pigmented epicapsular stellate remnants on the anterior lens surface. Dilated fundus examination revealed a total posterior vitreous detachment, despite the young age of the patient, with numerous white intragel opacities that were compatible with remnants of the vasa hyaloidea propria. The fundus had a tesselated appearance with angiographically visible large choroidal vessels. There was a retinochoroidal staphyloma inferotemporal to the optic disc. There were no retinal vessels visible temporally, and there was no macular differentiation or foveal pit. Competitive ELISA analysis disclosed no detectable serum endostatin. None of the 8 reported pathogenic mutations in the COL18A1 gene was found in the patient. CONCLUSIONS: Persistent fetal vasculature may be a clinical and important manifestation in some patients with KS and can be explained by a deficiency in endostatin. Endostatin deficiency may result in reduced or delayed regression of fetal blood vessels in the eye (including the intravitreal compartment), thereby resulting in incomplete development of the normal vasculature in the retina. Our typing results for the reported COL18A1 mutations confirm the genetic heterogeneity of KS.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/5. Management of cerebral vascular structures during endoscopic treatment of encephaloceles: a clinical report.OBJECTIVES: Otolaryngologists are increasingly being called upon to treat patients with cerebrospinal fluid leak and encephaloceles. The endoscopic approach to the skull base through the nose and paranasal sinuses has proven effective and is well tolerated by patients. With its more widespread and frequent use, unusual cases and potential complications are becoming more apparent. methods: Treatment of two clinical cases in which a cerebral vascular structure was encountered during endoscopic treatment of an encephalocele is presented, and the condition is reviewed. RESULTS: Two patients presented after a skull base injury that occurred during endoscopic sinus surgery. In each case the initial treating surgeon attempted endoscopic repair of a cerebrospinal fluid leak, but the repair failed and the leak persisted. Upon referral to the author, in each case, a traumatic encephalocele with an active leak was apparent, and during repair a cerebral vessel was encountered. It appeared that the vessel had been "pulled down" into the skull base defect with the encephalocele's migration into the sinonasal cavity. CONCLUSIONS: This unusual clinical condition is discussed along with the potential complications that can result from it. Otolaryngologists who treat encephaloceles should be aware of the possibility of encountering a cerebral vessel and should understand the potential complications and management options.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/5. A case of single umbilical artery with various fetal anomalies: correlations between prenatal ultrasonographic diagnosis and autopsy.We report a case of a single umbilical artery with various fetal anomalies, and a comparative study between prenatal ultrasonographic diagnosis and autopsy was done. The prenatal ultrasonographic diagnosis included, atrial septal defect (ASD), ventricular septal defect (VSD), mitral atresia or stenosis and a single great vessel. At autopsy, ASD, VSD, mitral atresia, overriding aorta and pulmonary atresia were evident. In case of other anomalies, the findings in the prenatal diagnosis and at autopsy were encephalocele, adrenal hypoplasia and a single umbilical artery. The ultrasonic detection of these anomalies is discussed and the limitations of this diagnostic method are given attention.- - - - - - - - - - ranking = 0.33333333333333keywords = vessel (Clic here for more details about this article) |
4/5. Atretic encephalocele/myelocele--case reports with emphasis on pathogenesis.Atretic encephaloceles or myelomeningoceles are frequently solid due to hamartomatous proliferation of fibrous tissue and blood vessels. Because of the fibrous nature of the tumor with no cystic cavity and unusual location with no connection to CNS, they are frequently regarded as insignificant hamartomas. Apart from this terminology, they are also described as cutaneous meningiomas or hamartomas with ectopic meningothelial elements by the presence of meningothelial cells. We report a case of atretic encephalocele in the parietal scalp of an 8 year-old boy and a case of myelomeningocele in the posterior mediastinum of a 31 year-old woman. The terms atretic encephalocele and myelomeningocele are more appropriate for these cases because they include their pathogenesis and the non-neoplastic nature of the lesion.- - - - - - - - - - ranking = 0.33333333333333keywords = vessel (Clic here for more details about this article) |
5/5. Cervical bone spur presenting with spontaneous intracranial hypotension. Case report.Spontaneous intracranial hypotension due to a spinal cerebrospinal fluid (CSF) leak is a rare but increasingly recognized cause of postural headaches. The exact cause of these CSF leaks often remains unknown. The authors treated a 32-year-old man with a unique cause of spontaneous intracranial hypotension. He suffered an excruciating headache that was exacerbated by his being in an upright position. The results of four-vessel cerebral angiography were negative; however, magnetic resonance (MR) imaging of the brain revealed pachymeningeal enhancement and hindbrain herniation. A presumptive diagnosis of spontaneous intracranial hypotension was made. myelography revealed extrathecal contrast material ventral to the cervical spinal cord as well as an unusual midline bone spur at C5-6. The patient's symptoms did not resolve with the application of epidural blood patches, and he subsequently underwent an anterior approach to the C5-6 spur. After discectomy, a slender bone spur that had pierced the thecal sac was found. After its removal, the dural rent was closed using two interrupted prolene sutures. The patient was discharged home 2 days later. On follow up his symptoms had resolved, and on MR imaging the pachymeningeal enhancement had resolved and the cerebellar herniation had improved slightly.- - - - - - - - - - ranking = 0.33333333333333keywords = vessel (Clic here for more details about this article) |