1/11. noonan syndrome and cavernous hemangioma of the brain.We present two patients with multiple characteristics that occur in Noonan phenotype and cavernous hemangioma of the brain. The first patient, who had been diagnosed radiographically as having a cavernous hemangioma in the left basal ganglia at age 15 years, developed massive intracerebral hemorrhage, resulting in sudden death at home at 19 years. The second patient, who was diagnosed radiographically as having a cavernous hemangioma in the left parietal lobe at age 17 years, is being followed carefully (the patient is currently 18 years old). A review disclosed four cases of structural cerebrovascular abnormalities with or without subsequent hemorrhage. Neither these four patients nor our two patients had any severe anomalies in the heart or large vessels, which are frequently seen in patients with noonan syndrome. Cerebrovascular abnormalities might have a significant influence on the prognosis of patients with noonan syndrome, especially those having no severe abnormalities in the heart or large vessels.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/11. Computed tomography after lymphangiography in the diagnosis of intestinal lymphangiectasia with protein-losing enteropathy in Noonan's syndrome.Noonan's syndrome is a rare congenital disorder that may be associated with abnormalities in the lymphatic drainage. In this case of a 21-year-old man CT after bipedal lymphangiography confirmed the diagnosis of intestinal lymphangiectasy causing protein-losing enteropathy in Noonan's syndrome by showing contrast-enhanced abnormal lymphatic vessels in the mesentery and the intestinal wall. Because of the benefit of diet in case of intestinal involvement, we recommend a thorough documentation of the lymphatic drainage with lymphangiography followed by CT, if clinical signs of lymphatic dysplasia, such as pleural effusions, lymphedema, or hypoproteinemia are present.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
3/11. prenatal diagnosis of Milroy's primary congenital lymphedema.Milroy's primary congenital lymphedema (PCL) (hereditary lymphedema type I, Milroy disease) is present at birth, and mostly affects the dorsal aspects of feet. It is mostly a life-long condition but does not affect longevity. Complications are rare except for chronic discomfort and warmness of affected areas. PCL is an autosomal dominant disease with incomplete penetrance due to a mutation in the gene locus encoding for VEGFR3 with resultant dysgenesis of microlymphatic vessels. We report on two fetuses where ultrasonographic examination at 15 weeks of gestation showed significant edema of the dorsal aspects of both feet with no evidence of other major malformations. Whereas in one fetus the edema resolved completely, it persisted in the second fetus and proved after birth to be of lymphedematous nature. To the best of our knowledge, this is the first report of early prenatal diagnosis of primary congenital lymphedema via fetal ultrasonographic examination and of spontaneous resolution of lymphedema during fetal life.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
4/11. Prenatal dna diagnosis of noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites.Prenatal molecular genetic diagnosis for noonan syndrome I is reported. noonan syndrome was suspected because of large cystic hygroma colli, massive pleural effusion and ascites at 23 weeks of gestation and normal karyotype (46,XX). dna was prepared from amnion cells and screened for mutations in the PTPN11 gene. In exon 8, a missense mutation (S285F) was found. Delivery was induced at 33 weeks of gestation because of silent cardiotocography (CTG).Despite immediate drainage of the hydrothorax, mechanical ventilation was insufficient and the child died 9 h after birth due to severe pulmonary hypoplasia. Pleural punctate was enriched for small lymphocytes and thus was characterized as chylus.Prenatal ultrasound findings in noonan syndrome usually are unspecific and rarely lead to a diagnosis. However, with the combination of cystic hygroma, pleural effusion, ascites and normal karyotype noonan syndrome should be considered and dna testing for PTPN11 mutations may be appropriate. Malformations of lymphatic vessels and/or chylothorax in noonan syndrome seem to be more frequent than usually anticipated.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
5/11. lymphedema in noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature.The noonan syndrome (NS) is a true multiple congenital anomalies (MCA) syndrome with numerous manifestations. An association with lymphedema has been noted, but its pathogenesis is not fully understood. Nine new cases and a review of the literature explore the role of lymphedema in NS, including its pathogenesis, presentations, and phenotypic effects. Consideration is given to developmental stage at time of onset, chronicity, resolution, and anatomic site. It appears likely that lymphedema is a much more frequent concomitant in NS than previously realized. The major source of lymphedema in NS appears to be a presently undefined dysplasia of lymphatic vessels of unknown cause. Further study of lymphedema may provide an understanding of its role in shaping the NS phenotype. Comparison with other MCA syndromes and animal models is made in this regard. Relevance to prenatal diagnosis and treatment is discussed.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
6/11. Nonimmune hydrops fetalis in Noonan's syndrome.Nonimmune hydrops fetalis has been reported to be associated with congenital malformations. We describe two newborns with Noonan's syndrome who presented with nonimmune hydrops fetalis that was most likely secondary to a generalized lymphatic vessel dysplasia. Other manifestations of lymphatic abnormalities in Noonan's syndrome, such as pedal edema and pulmonary and intestinal lymphangiectasis, have been observed in children. Nonimmune hydrops represents one end of the spectrum of abnormalities seen in this syndrome.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
7/11. trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts. In one patient, the trisomy resulted from a paternal first meiotic nondisjunction, and in the 46,XX cells, both chromosomes 22 were of paternal origin.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
8/11. Testicular lymphangiectasis in Noonan's syndrome.We describe a boy with testicular lymphangiectasis and Noonan's syndrome. Both testes showed seminiferous tubules with a reduced tubular diameter, containing few spermatogonia. The testicular interstitium exhibited a number of large, dilated lymphatic vessels forming irregular channels among the seminiferous tubules and surrounding them. Since there was no accompanying pathological condition to indicate an obstruction to the lymphatic flow at the level of the spermatic cord or in the regional lymph nodes, the abnormal development of testicular lymphatic vessels suggests a congenital malformation.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
9/11. Thromboembolic infarcts occurring after mild traumatic brain injury in a paediatric patient with Noonan's syndrome.Noonan's syndrome is a genetic concurrence of multiple morphological abnormalities typified by short stature, webbed neck, cardiovascular abnormalities, and characteristic facies. Numerous neurological conditions have also been associated with Noonan's syndrome, including cerebrovascular pathology. This paper describes the case of a 15-year-old female on our paediatric rehabilitation service who, in a motor vehicle accident, suffered a mild traumatic brain injury (TBI) which was followed by multiple thromboembolic infarcts of the posterior circulation. Full work-up resulted in the diagnosis of Noonan's syndrome and the demonstration of significant posterior circulation congenital anomalies. Traumatic vasculopathy, superimposed on the developmentally hypoplastic posterior vessels, was suggested as an aetiology of this patient's stroke. A review of the limited literature associating thromboembolic infarcts with antecedent TBI, and linking Noonan's syndrome to various neurological problems, is discussed. This paediatric rehabilitation case represents a fascinating new association between thromboembolic infarcts and TBI in the setting of a previously undiagnosed genetic syndrome.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
10/11. A variant of Noonan's syndrome: a case history.The authors describe a variant of Noonan's syndrome hitherto undescribed. The special findings in this case were anomalous origin of the aortic arch vessels and focal glomerulonephritis.- - - - - - - - - - ranking = 0.5keywords = vessel (Clic here for more details about this article) |
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