1/120. An unusual case of the complete Currarino triad: case report, discussion of the literature and the embryogenic implications.OBJECTIVE AND IMPORTANCE: We present and illustrate an unusual case of the complete familial Currarino triad (an association between a bony sacral defect, a presacral mass, and an anorectal malformation) in which the teratoma arose from the conus medullaris and contained mature neurons, glia, and branching ependymal canals that were in communication with a terminal syrinx. The embryogenic implications are discussed. CLINICAL PRESENTATION: The patient was a term neonate when discovered to have imperforate anus. Further workup revealed lumbosacral dysraphism with a presacral mass, a rectovaginal fistula, and a single pelvic kidney. The family pedigree revealed a familial transmission pattern; the patient had a second cousin with anal atresia and a first cousin with similar sacral anomalies. The motor level was L4 with trace L5, and there was absent sensation in the sacral dermatomes. INTERVENTION: A diverting colostomy was performed on Day 14, and the infant returned at 3 months of age to undergo near-total resection through the previous abdominal approach. Only a subtotal resection was possible because the mass arose from the low-lying conus and was firmly adherent to the sacral nerve roots and iliac vessel. Follow-up magnetic resonance imaging performed 18 months after surgery revealed that the residual tumor had not progressed. CONCLUSION: Complete Currarino triad is rare and is familial in half of the cases. The special features of the tumor in our case were the presence of mature neurons with ependymal canals and its origin from the conus. The possible embryogenesis may provide evidence that the caudal notochord is important for organized secondary neurulation.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/120. Pulmonary agenesis, microphthalmia, and diaphragmatic defect (PMD): new syndrome or association?We present the prenatal diagnosis of a 22-week-gestation fetus with unilateral pulmonary agenesis, diaphragmatic hernia, microphthalmia, pulmonary vessel agenesis, and intrauterine growth retardation. The "association" of pulmonary agenesis, diaphragmatic defect, and microphthalmia was described previously in two patients but the resemblance was not noted by the authors. While each case differs slightly in some of the associated anomalies, it is evident that the mainstay of diagnosis is similar to the case presented here and that this represents a new syndrome or association.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/120. Atrophy of the left lobe of the liver and anomalous hepatic vessel in a patient with Yunis-Varon syndrome.Yunis-Varon syndrome is inherited as an autosomal recessive trait. It is characterized by facial and digit anomalies. This report describes a young woman with clinical features of this syndrome, atrophy of the left lobe of the liver, and a vascular anomaly. liver abnormalities have not been described as features of this rare syndrome.- - - - - - - - - - ranking = 4keywords = vessel (Clic here for more details about this article) |
4/120. Acardiac acephalus: a case report and implications on expectant management.Acardiac acephalus is a rare occurrence resulting from extensive anastomoses between the vessels of the monochorionic twins which invariably leads to death of the "perfused" twin and an estimated 50% perinatal mortality rate in the "pump" twin, due mainly to premature delivery or congestive heart failure. Once diagnosis has been documented, blocking the vascular flows between the twins has been the principle goal of treatment with the assumption that a more favorable chance of survival in the pump twin can be achieved. However, hasty surgical intervention without a well-designed preoperative evaluation may result in unfavorable outcomes. A 21-year-old nullipara was found to carry an acardiac parabiotic twin in a monochorionic twin pregnancy at 28 weeks of gestation and was referred to us from a local clinic. Expectant management based on the close monitoring of the well-being of the healthy co-twin is presented in this article along with review of published works on the management of this rare condition.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/120. Acrogeria of the Gottron type in a mother and son.We report a familial case of acrogeria in a mother and son, with characteristic cutaneous involvement and no clinical signs of vascular ehlers-danlos syndrome (former EDS type IV) in spite of some tendency to bruising. The biochemical and molecular studies did not disclose any abnormality of collagen type iii, which favours the diagnosis of acrogeria. It appears that recognition of acrogeria as an entity is of clinical significance since these cases are not associated with systemic involvement, and specifically with rupture of vessels and internal organs, occasionnally occurring in EDS.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
6/120. prenatal diagnosis of a fetus with a cryptic translocation 4p;18p and wolf-hirschhorn syndrome (WHS).wolf-hirschhorn syndrome (WHS) is caused by distal deletion of the short arm of chromosome 4 and is characterized by growth deficiency, mental retardation, a distinctive, 'greek-helmet' facial appearance, microcephaly, ear lobe anomalies, and sacral dimples. We report a family with a balanced chromosomal translocation 4;18(p15.32;p11.21) in the father and an unbalanced translocation resulting in partial monosomy 4 and partial trisomy 18 in one living boy and a prenatally diagnosed male fetus. Both showed abnormalities consistent with WHS and had in addition aplasia of one umbilical artery. karyotyping of another stillborn fetus revealed a supernumerary derivative chromosome der(18)t(4;18)(p15.32;p11.21) of paternal origin and two normal chromosomes 4. The umbilical cord had three normal vessels. A third stillborn fetus with the same balanced translocation as the father had a single umbilical artery and hygroma colli.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
7/120. Spondylocarpotarsal synostosis with ocular findings.We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
8/120. Multiple coronary artery aneurysms in a child with neurofibromatosis type 1.A number of frequently unrecognised vascular manifestations have been described in patients with neurofibromatosis type 1 (NF1), including involvement of the great vessels, cerebral, visceral and renal arteries. Rarely, changes in the coronary arteries have been reported in adults with NF1. We report on a 16-year-old boy affected by NF1 with dysmorphic features and three aneurysms in the mid-portion of the left descending coronary artery disclosed by chance during investigation for a malignant peripheral nerve sheath tumour. Molecular analysis detected a gross de novo deletion in the NF1 gene. The boy had had no previous cardiac symptoms but died suddenly after developing signs and symptoms suggestive of myocardial infarction. CONCLUSION: To the best of our knowledge, this represents the first report of multiple lesions in the coronary arteries in a child affected by neurofibromatosis type 1 with a known deletion of the neurofibromatosis type 1 gene.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
9/120. Ivemark syndrome: asplenia with kidney collecting duct cysts and polysplenia with cerebellar cyst.Two newborns, one male and one female, from two different families, with Ivemark syndrome proven at autopsy are reported. One of them had asplenia and another had polysplenia. Both newborns had complex cardiac defects with isomerism of the lungs. The newborn with asplenia had dextrocardia, transposition of the great vessels, stenosis of the pulmonary artery, common atrioventricular canal and patent ductus arteriosus. The newborn with polysplenia had a common atrium, hypoplastic left ventricle and patent ductus arteriosus. The patient with asplenia had cystic dilated collecting ducts of the kidney and the patient with polysplenia had cerebellar cyst. These associate malformations have not been reported previously. Both cases were sporadic.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
10/120. optic disk pallor and retinal atrophy in sotos syndrome (cerebral gigantism).PURPOSE: To report a case of sotos syndrome (cerebral gigantism) with megalophthalmos, optic disk pallor, and retinal atrophy. methods: Case report. RESULTS: A 22-year-old man was diagnosed with sotos syndrome with optic atrophy. His corneal diameters were 13 mm horizontally, and his optic disks were pale. His retinal vessels were attenuate in diameter, and small white spots were found on the retina. The results of a Goldmann visual field test were normal. His visually evoked potential to flash stimuli showed extended latent times and normal amplitudes. Keratometry was 40.5 diopters (8.33 mm) in both eyes. The axial length was 25.9 mm in the right eye and 25.4 mm in the left eye. CONCLUSION: sotos syndrome may be associated with optic disk pallor and retinal atrophy.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
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