1/66. Midline cerebellar cystic schwannoma : a case report.An extremely unusual case of a cystic schwannoma in the region of the inferior vermis and posterior to the fourth ventricle in a fifteen year old boy is reported. The cystic tumour caused partial obstruction to the outflow of cerebrospinal fluid from fourth ventricle and resulted in development of supratentorial hydrocephalus. On investigations, the schwannoma simulated a Dandy-Walker cyst. The boy presented with symptoms of increased intracranial pressure. On surgery, the lesion was not arising from any cranial nerve, nor was it attached to brain parenchyma, blood vessel or to the dura. The possible histogenesis of the cystic schwannoma in a rare location is discussed.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
2/66. 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 = brain (Clic here for more details about this article) |
3/66. 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 = 7keywords = brain (Clic here for more details about this article) |
4/66. 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 = brain (Clic here for more details about this article) |
5/66. 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 = 3.1087159305382keywords = central nervous system, nervous system (Clic here for more details about this article) |
6/66. Neurocutaneous melanosis associated with Dandy-Walker malformation. case report and review of the literature.Neurocutaneous melanosis is a rare dysmorphogenesis associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the leptomeninges anywhere in the central nervous system (CNS). It is interesting that almost 8-10% of patients had associated Dandy-Walker malformation in the literature, suggesting a common origin of the developmental abnormalities. In this article, we present a 2-year-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. We reviewed the literature and discuss the pathogenesis based on the preferred hypotheses so far.- - - - - - - - - - ranking = 3.1087159305382keywords = central nervous system, nervous system (Clic here for more details about this article) |
7/66. Dandy-Walker variant in Coffin-Siris syndrome.We describe a five-month-old male infant with Coffin-Siris syndrome, the so-called Dandy-Walker variant (hypoplasia of the cerebellar vermis with cystic dilatation of the fourth ventricle, but without enlargement of the posterior fossa), and partial agenesis of the corpus callosum. Dandy-Walker malformation and mega cisterna magna, but not Dandy-Walker variant, have been reported in Coffin-Siris syndrome. The presence of Dandy-Walker variant in the infant we described confirms that the full continuum of the Dandy-Walker complex can occur in Coffin-Siris syndrome. The yet unidentified gene(s) for the syndrome may be related to the development of the hindbrain.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
8/66. De novo interstitial long arm deletion of chromosome 3 with facial dysmorphism, Dandy-Walker variant malformation and hydrocephalus.We report an 8-year-old girl with coarse facial features, macrocrania and developmental delay. Cranial anomalies in the form of hydrocephalus and Dandy-Walker (DW) variant malformation were detected on neuro-imaging. karyotyping revealed a de novo interstitial deletion of bands 3q25.1 to 3q25.33. Deletion of the 3q24-q26 region appears to be associated with a somewhat similar constellation of findings of craniofacial dysmorphism (broad and depressed nasal bridge and low set posteriorly rotated ears), mental retardation, congenital heart defects, and central nervous system malformations.- - - - - - - - - - ranking = 3.1087159305382keywords = central nervous system, nervous system (Clic here for more details about this article) |
9/66. Neuroendoscopic third ventriculostomy in dysmorphic brains.Neuroendoscopic third ventriculostomy (NTV) has superseded shunting as the treatment of choice in non-communicating hydrocephalus. Intracranial developmental anomalies have been considered to be relative contraindications for this procedure. We present one patient with a Dandy-Walker malformation and another with septo-optic dysplasia who presented with hydrocephalus. An NTV was performed successfully in both patients using a flexible neuroendoscope and utilising transendoscopic Doppler ultrasound to ensure a safe target area for ventriculostomy.- - - - - - - - - - ranking = 4keywords = brain (Clic here for more details about this article) |
10/66. Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: report of five infants.Five infants (two girls and three boys) from four families all had severe pre- and postnatal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and developed uncontrollable clonic seizures. Four infants developed Wilms tumors, and one showed cystic lesions in bilateral kidneys. All five infants showed variegated mosaic aneuploidy in cultured lymphocytes. In two infants whose chromosomes were prepared by us, 48.5%-83.2% lymphocytes showed total premature chromatid separation (PCS). Their parents had 3.5%-41.7% of their lymphocytes in total PCS. The remaining three infants and their parents, whose chromosomes were prepared at outside laboratories, tended to show lower frequencies of total PCS. Another five infants reported with the disorder were reviewed together with the five infants we described. Together, their clinical and cytogenetic manifestations were similar enough to suggest a syndrome. Seven of the 10 infants developed proven or probable Wilms tumors. The age at diagnosis of the tumors was younger than usual at 2-16 months. The tumors were bilateral in four infants and unilateral in three infants, and cystic changes were present in six infants. Two infants developed botryoid rhabdomyosarcoma. The carriers of the syndrome are thus liable to tumorigenesis. The possible role of mitotic checkpoint defects, proven in two infants with the syndrome (Matsuura et al. [2000: Am J Hum Genet 69:483-486]), was discussed in connection with tumor development and progression.- - - - - - - - - - ranking = 1keywords = brain (Clic here for more details about this article) |
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