1/170. Isolated Dandy-Walker malformation: prenatal diagnosis in two consecutive pregnancies.We report a family with recurrent Dandy-Walker malformation (DWM). The first offspring was found prenatally to have isolated DWM at 30 weeks' gestation. ultrasonography at 19 weeks' gestation in the subsequent pregnancy revealed isolated DWM in both dizygotic twins. Chromosome analysis was normal in all three infants, and autopsy confirmed that no other congenital abnormalities were present. Evidence suggests that rare families transmit the disorder in an autosomal or X-linked recessive pattern, with a high recurrence risk.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/170. 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 = 1.2keywords = malformation (Clic here for more details about this article) |
3/170. Fetal brain death and Dandy-Walker malformation.The diagnosis of brain death by Doppler ultrasonography and magnetic resonance imaging is reported in a fetus at 23 weeks' gestation. This is believed to be the first instance in which brain death has been shown in a premature fetus with a brain-stem anomaly.- - - - - - - - - - ranking = 0.8keywords = malformation (Clic here for more details about this article) |
4/170. 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 = 0.8keywords = malformation (Clic here for more details about this article) |
5/170. 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 = 0.2keywords = malformation (Clic here for more details about this article) |
6/170. 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 = 1keywords = malformation (Clic here for more details about this article) |
7/170. Dandy-walker malformation: prenatal diagnosis and outcome.Prenatal ultrasound identified Dandy-Walker malformation (DWM) in ten singleton pregnancies with concurrent central nervous system (CNS) anomalies and extra-CNS anomalies in eight cases. DWM was confirmed by postnatal magnetic resonance imaging (MRI) or pathological examination in nine cases. Karyotypes were normal in the seven infants tested. Postnatal neurological and developmental testing in the five survivors showed a spectrum of clinical outcome from minor defects to severe handicap. Postnatal investigation also disclosed additional CNS and extra-CNS findings not detected on ultrasound, as did autopsy in the other five infants. However, ultrasound diagnosis of DWM is accurate and is an indication for exhaustive screening for concurrent anomalies both within and outside the CNS and in chromosome structure and number, as the prognosis is heavily dependent on associated malformations and karyotype.- - - - - - - - - - ranking = 1.2036831995042keywords = malformation, nervous system (Clic here for more details about this article) |
8/170. 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 = 0.4keywords = malformation (Clic here for more details about this article) |
9/170. Blake's pouch cyst: an entity within the Dandy-Walker continuum.Abnormal cerebrospinal fluid (CSF) collections within the posterior fossa are defined by the Dandy-Walker complex (DWC) and by arachnoid cysts (AC). The DWC includes the Dandy-Walker malformation (DWM), the Dandy-Walker variant (DWV) and the mega-cisterna magna (MCM). In addition, Tortori-Donati et al. added persistent Blake's pouch cyst (BPC) as an independent entity within the DWC. BPC represents a posterior ballooning of the superior medullary velum into the cisterna magna. All of these malformations are overlapping developmental anomalies characterized by varying degrees of malformation of the medullary vela, the cerebellar vermis and hemispheres, the fourth ventricle choroid plexus, the posterior fossa subarachnoid cisterns and the enveloping meningeal structures. We present two cases of persistent BPC detected in two adult women without history of gestational or subsequent growth problems. They underwent neuroradiological investigation because of headache and because of recurrent episodes of loss of consciousness, respectively. The MRI findings included tetraventricular hydrocephalus, wide communication of the fourth ventricle and the cystic posterior fossa (i.e. BPC), inferior posterior fossa mass effect with or without hypoplasia of both the cerebellar vermis and the medial aspects of the cerebellar hemispheres, and absence of communication between fourth ventricle and the basal subarachnoid space in the midline posteriorly. Persistent BPC is defined by a failure of embryonic assimilation of the area membranacea anterior within the tela choroidea associated with imperforation of the foramen of Magendie. Typically this condition becomes symptomatic early in life. In the current cases the normal function of the laterally positioned foramina of Luschka probably helped to maintain some CSF flow between intraventricular and subarachnoid spaces, with the establishment of a precarious equilibrium characterized by a compensatory enlargement of the cerebral ventricular system (i.e. hydrocephalus).- - - - - - - - - - ranking = 0.6keywords = malformation (Clic here for more details about this article) |
10/170. Yunis-Varon syndrome: evidence for a lysosomal storage disease.We present clinical and neuropathological findings in a female infant with Yunis-Varon syndrome (YVS) comprising absence of thumbs and halluces, aphalangia of fingers and toes, hypoplasia of clavicles, severely undermineralized skeleton (especially skull), microcephaly, and multiple nonskeletal anomalies. The patient also had a Dandy-Walker malformation, hydrocephalus, and hypertension, which were not reported previously in YVS. The infant excreted an abnormal unidentified oligosaccharide. The patient died at day 108 with severe neurological impairment. autopsy showed prominent intraneuronal inclusions with vacuolar degeneration, mainly in the thalamic, dentate nuclei, cerebellar cortex, and inferior olivary nuclei. No storage phenomena were observed in other tissues. These findings strongly suggest that a lysosomal storage disorder is involved in the pathogenesis of Yunis-Varon syndrome.- - - - - - - - - - ranking = 0.2keywords = malformation (Clic here for more details about this article) |
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