| Hematologic side effects are rare side effects of treatment with phenytoin. We report a 2-year-old girl who developed reversible thrombocytopenia following treatment with phenytoin. thrombocytopenia as a side effect of phenytoin treatment has usually been reported in adults and generally occurs 2 to 4 weeks after initiation of therapy. In our case, the thrombocytopenia developed on the 11th day of therapy and resolved 5 days after discontinuation of the phenytoin. ( info) |
2/256. 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. ( info) |
| Multi-stage reduction cranioplasty was performed on two children with severe macrocephaly secondary to hydrocephalus. One patient underwent a four-stage operation, and the other underwent a two-stage operation. The postoperative course of both patients was uneventful. Reduction cranioplasty improved quality of life for both patients, and good cosmetic results were achieved. Reduction cranioplasty is effective for the treatment of macrocephaly, and multi-stage surgery can reduce the associated risks. ( info) |
4/256. 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. ( info) |
5/256. 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. ( info) |
| 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. ( info) |
7/256. 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. ( info) |
8/256. 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. ( info) |
9/256. 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. ( info) |
10/256. 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. ( info) |