1/152. Syndrome of microcephaly, Dandy-Walker malformation, and wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.We report a male infant with multiple congenital anomalies and mosaic variegated aneuploidy; a rare cytogenetic abnormality characterized by mosaicism for several different aneuploidies involving many different chromosomes. He had prenatal-onset growth retardation, microcephaly, dysmorphic face, seizures, hypotonia, feeding difficulty, and developmental delay. In addition, he developed bilateral Wilms tumors. Neuroradiological examination revealed Dandy-Walker malformation and hypoplasia of the cerebral hemisphere and pons. cytogenetic analysis revealed various multiple numerical aneuploidies in blood lymphocytes, fibroblasts, and bone marrow cells, together with premature centromere division (PCD). Peripheral blood chromosome analysis from his parents also showed PCD, but no aneuploid cells. The clinical phenotype and multiple aneuploidies of the patient may be a consequence of the homozygous PCD trait inherited from his parents. Comparison with previously reported cases of multiple aneuploidy suggests that mosaic variegated aneuploidy with PCD may be a clinically recognizable syndrome with major phenotypes being mental retardation, microcephaly, structural brain anomalies (including Dandy-Walker malformation), and possible cancer predisposition.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
2/152. dandy-walker syndrome associated with occipital meningocele and spinal lipoma--case report.A neonate presented with dandy-walker syndrome associated with occipital meningocele and spinal lipoma, manifesting as soft masses on the skull and lumbosacral regions. magnetic resonance imaging demonstrated a large posterior fossa cyst between the fourth ventricle and occipital meningocele, but the aqueduct was patent and there was no sign of hydrocephalus. A cyst-peritoneal shunt was emplaced at the age of 8 days followed by partial removal of the spinal lipoma and untethering of the cord at the 3 months. Follow-up examination of age 3 years found almost normal development, although the cyst still persisted.- - - - - - - - - - ranking = 5keywords = syndrome (Clic here for more details about this article) |
3/152. Ultrasound-guided puncture of a Dandy-Walker cyst via the lateral and III ventricles.Since the dandy-walker syndrome was first described by Dandy and Blackfan, Taggart and Walker, the many variants of posterior fossa anomalies, the appropriate management of these malformations and the clinical outcome have been the subjects of controversy. Surgery of the posterior fossa with membrane excision was initially the preferred method of treatment. Unfortunately, there was a high rate of complications, and many of the patients treated in this way still needed a shunting system. Ventricular-peritoneal and/or cysto-peritoneal shunting is commonly used to treat symptomatic posterior fossa cysts of Dandy-Walker malformations and hydrocephalus. Cysto-peritoneal shunt implantation only was associated with a high rate of complications, and most patients so treated needed a ventriculo-peritoneal shunt in addition. According to the literature, combined ventriculo-peritoneal and cysto-peritoneal shunting is needed for satisfactory decompression of Dandy-Walker cyst and hydrocephalus in between 16% and 92% of cases. We report on a young patient with a Dandy-Walker malformation who needed drainage of the posterior fossa and a ventricular shunt. We decided to drain the cyst and the supratentorial ventricles via a single, especially prepared, catheter with many perforations. The catheter was inserted under ultrasound guidance. The tube was inserted from the left lateral ventricle through the foramen of Monro into the III ventricle and downwards into the cyst. Intraoperatively, an immediate decrease in the size of the cyst and the supratentorial ventricles was observed. Postoperative MRI confirmed the exact position of the catheter and sufficient drainage of the posterior fossa cyst and the ventricles. Six months later the girl was seen in our outpatient department. Clinical examination showed no neurological deficit, and MRI demonstrated sufficient drainage of the ventricles and the Dandy-Walker malformation, and in addition hypoplasia of the corpus callosum.- - - - - - - - - - ranking = 1keywords = syndrome (Clic here for more details about this article) |
4/152. The 3C syndrome: evolution of the phenotype and growth hormone deficiency.The 3C syndrome (cranio-cerebello-cardiac dysplasia or the Ritscher-Schinzel syndrome) is a recently delineated condition involving abnormalities of the cranium (large head with prominent forehead), cerebellum (Dandy-Walker cyst and vermis hypoplasia), and cardiac (primarily septal) defects. At least 20 individuals with this condition have been reported in the past 11 years. We report on a girl with the 3C syndrome who at 13 years of age is the oldest patient reported to date. She has been followed since birth, allowing us to show the evolution of her phenotype over time. In addition, she has documented growth hormone deficiency. We suggest that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition.- - - - - - - - - - ranking = 7keywords = syndrome (Clic here for more details about this article) |
5/152. dandy-walker syndrome successfully treated with cystoperitoneal shunting--case report.A neonate presented with dandy-walker syndrome manifesting as a large posterior cranial fossa cyst, aplasia of the lower cerebellar vermis, and elevation of the confluence of the sinuses but without hydrocephalus. A cystoperitoneal shunt was placed at one month after birth. The cyst diminished in size, and marked development of the cerebellar hemispheres and descent of the confluence of sinuses were observed, but not vermis development. The primary pathology of dandy-walker syndrome is posterior cranial fossa cyst formation due to passage obstruction in the fourth ventricle exit area and aplasia of the lower cerebellar vermis. The first choice of treatment in patients with dandy-walker syndrome in whom the cerebral aqueduct is open is cystoperitoneal shunt surgery, regardless of the presence or absence of hydrocephalus.- - - - - - - - - - ranking = 7keywords = syndrome (Clic here for more details about this article) |
6/152. dandy-walker syndrome associated with congenital heart defects: report of three cases.Three cases of dandy-walker syndrome associated with congenital heart defects are reported, and their management is described. The various theories concerning the aetiology of the dandy-walker syndrome are discussed and it is suggested that the theory of primary developmental atresia of the foramina of Magendie and Luschka is still acceptable. If the child with dandy-walker syndrome requires treatment by extracranial CSF drainage it is proposed that a ventriculo-peritoneal shunt is preferable when there is any suspicion of cardiac anomaly. The proximal catheter should be placed in the posterior fossa cyst (dilated fourth ventricle) rather than in the lateral ventricle.- - - - - - - - - - ranking = 7keywords = syndrome (Clic here for more details about this article) |
7/152. Dandy-Walker anomaly in Meckel-Gruber syndrome.We report a fetus affected by Meckel-Gruber syndrome whose phenotype was characterized by macrocephaly, frontal bossing, a saddle nose, marked micrognathia, a distended abdomen, omphalocele, post-axial polydactyly and talipes equinovarus. The main neuropathological finding at autopsy was in a very large cyst located in an abnormally wide posterior cranial fossa consistent with a Dandy-Walker anomaly. Intestinal malrotation, enlarged cystic dysplastic kidneys and hepatic portal fibrosis coexisted. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms a disturbance in rhombencephalon development. Although uncommon, it should be included among the central nervous anomalies representative of the syndrome.- - - - - - - - - - ranking = 7keywords = syndrome (Clic here for more details about this article) |
8/152. dandy-walker syndrome: presentation of the congenital malformation in an older patient.dandy-walker syndrome, a congenital malformation of the hindbrain involving the cerebellum and the fourth ventricle, is a rare cranial abnormality that commonly occurs before the sixth or seventh week of development. It is usually diagnosed at birth or in early childhood; however, an occasional patient may first become symptomatic in adult life. A case of dandy-walker syndrome in a 58-year-old woman is reported because of the older age at presentation and relatively long asymptomatic period after birth.- - - - - - - - - - ranking = 6keywords = syndrome (Clic here for more details about this article) |
9/152. OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs.We present 2 sibs with manifestations of oral-facial-digital syndromes (OFD) and Joubert syndrome. The index patient was the 5th child of healthy nonconsanguineous Turkish parents. At birth this female patient had large hydrocephalus, hypertelorism, deep-set eyes, nystagmus, broad mouth, thick oral frenula, cleft palate, hamartomas of the tongue, postaxial polydactyly of fingers, normal toes, and hypotonia. Cranial MRI showed hydrocephalus and Dandy-Walker malformation. The child had no psychomotor development, was unable to swallow and had severe seizures. She died at 2 months of recurrent apneic episodes. At birth the brother of the index patient showed prominent forehead, broad, deep nasal bridge, cleft palate, multiple hamartomas of the tongue, irregular alveolar ridges, retrognathia, bilateral postaxial polydactyly of the hands and feet, and broad halluces. He had an abnormal breathing pattern with phases of tachypnea and apnea. Cranial MRI showed hydrocephalus, hypoplasia of the cerebellar vermis, Dandy-Walker malformation, and hypomyelination of the corpus callosum. Renal ultrasonography demonstrated multiple small cysts. Ocular fixation was absent and he had a mild nystagmus.- - - - - - - - - - ranking = 6keywords = syndrome (Clic here for more details about this article) |
10/152. association of large facial hemangiomas with dandy-walker syndrome. Case study concerning three infants.Hemangiomas are the most common benign tumors of infancy and are observed in 2-3% of newborns. The dandy-walker syndrome is characterized by a cystic expansion of the fourth ventricle, a dysgenesis of the vermis of the cerebellum and atresia of the foramina of Luschka and Magendie. We report on three infants with large bilateral facial hemangiomas in association with a dandy-walker syndrome. We conclude that although the three diseases are not based on one common genetic disorder, as far as we know, one should bear this association in mind in cases with large facial hemangiomas.- - - - - - - - - - ranking = 6keywords = syndrome (Clic here for more details about this article) |
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