Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome.

Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.

The Impact of Prenatal Diagnosis of Selected Central Nervous System Anomalies for Prenatal Counselling Based on Significant Pregnancy Morbidity and Neonatal Outcomes.

BACKGROUND & OBJECTIVES: Prenatal screening and diagnostic imaging advances have led to an increased detection of CNS anomalies, including ventriculomegaly/congenital hydrocephalus (HCP), Dandy-Walker malformation (DWM), and myelomeningocele (MMC). Data on pregnancy outcomes and the impact of prenatal diagnosis on neonatal outcomes is limited. Our study aimed to provide data on obstetric and neonatal outcomes following prenatal diagnosis of one of three CNS anomalies. METHODS: A retrospective search of two databases in Alberta, Canada and NICU chart review of cases between 2001 and 2011was completed. Primary outcomes for each group were pregnancy outcome (live birth, stillbirth, and termination) and detection rate. Secondary outcomes were live and total birth prevalence, mode of delivery, GA at delivery, and length of NICU stay for inborn versus outborn patients. RESULTS: Prenatal detection rates were 91.6% (HCP), 83.4% (DWM), and 92.9 % (MMC). Termination rates were 30.2% (DWM), 34.2% (HCP), and 48.5% (MMC). Median GA (weeks, range) at diagnosis were 22 (17-38), 20 (12-37), and 20.5 (18-34) for HCP, DWM, and MMC, respectively. Rate of Caesarean section for fetal indication was 50.0%, 44.4%, and 42.9% for HCP, DWM, and MMC, respectively. Median NICU length of stay was longer for outborn patients than inborn patients and were as follows: (range) 33.0 (21-38) versus 8.5 (1-49) d (HCP), and 29 (29-57) versus 14 (2-75) d (DWM). CONCLUSION: This study provides termination rates, obstetric interventions, and NICU length of stay for prenatally-identified CNS anomalies. Collectively, this study assists prenatal counselling women with a fetus affected by a described CNS anomaly.

Long-term operative failure of endoscopic third ventriculostomy in pediatric patients: the role of cine phase-contrast MR imaging.

OBJECT: Although a rarely reported occurrence, late failure of endoscopic third ventriculostomy (ETV) may occur in children as a result of a variety of factors. Delay in recognition of symptoms can lead to harmful deterioration in the patient's condition. The authors undertook this study to assess the capacity of cine phase-contrast MR imaging to identify late failure in asymptomatic pediatric patients treated with ETV for hydrocephalus. METHODS: This study was a retrospective evaluation of cases involving patients who underwent ETV between January 1, 1999, and December 31, 2008, at the pediatric neurological surgery service of the University of Padua. Before 2004, patients were routinely followed up with cine MR imaging at 3, 6, and 12 months after ETV. In 2004, a protocol of annual cine MR follow-up was instituted as a result of a case of fatal late failure. The authors evaluated all cases of late failure identified through cine MR imaging and performed a statistical analysis to investigate the relationship between ETV failure and several variables, including the cause of hydrocephalus for which ETV was originally indicated. RESULTS: In a series of 84 patients (age range 6 days-16 years), 17 patients had early ETV failure. Of the remaining 67 patients, 5 (7%) were found to have no CSF flow through the fenestration and recurrent ventriculomegaly when assessed with cine MR imaging at 1, 2, 3, 4, and 7 years after ETV. The patient in whom ETV failure was identified 1 year postoperatively had Dandy-Walker malformation. The patients in whom ETV failure was identified 2, 3, and 4 years postoperatively all had undergone ETV for treatment of postinfective hydrocephalus. The patient in whom ETV failure was identified 7 years postoperatively had a cystic arachnopathy in the fourth ventricle after cerebellar astrocytoma removal. CONCLUSIONS: Patients who undergo ETV for infective hydrocephalus and Dandy-Walker malformation should receive long-term follow-up, because late closure of the stoma may occur progressively and slowly. Intraoperative observation of thickened arachnoid membranes at the level of the interpeduncular cisterns at the first ETV and a progressive decreasing of CSF flow through the stoma on routine cine MR imaging should be considered unfavorable elements entailing a significant risk of deterioration.

Racial disparities in mortality among infants with Dandy-Walker syndrome.

BACKGROUND: Congenital malformations are the major cause of infant mortality in the United States, but their contribution to overall racial disparity--a major public health concern--is poorly understood. We sought to estimate the contribution of a congenitally acquired central nervous system lesion, Dandy-Walker Syndrome (DWS), to black-white disparity in infant mortality. METHODS: Data were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system. We compared black to white infants with respect to infant, neonatal, and postneonatal mortality using Cox proportional hazards regression models. RESULTS: A total of 196 live-born neonates were diagnosed with DWS in the state from 1992 to 2005 inclusive. Of these, 53 were non-Hispanic black and 76 were non-Hispanic white. Neonatal mortality was similar for non-Hispanic blacks and non-Hispanic whites (adjusted hazards ratio [AHR], 1.42; 95% CI, 0.52-3.82), but non-Hispanic blacks had an 8-fold increased risk for postneonatal mortality (AHR, 8.26; 95% CI, 2.08-32.72). Adjustment for fetal growth and other maternal and infant characteristics resulted in a 10-fold increased risk of mortality for non-Hispanic black infants as compared to non-Hispanic whites. By contrast, adjustment for preterm birth attenuated the risk, but non-Hispanic black infants were still more than 6 times as likely to die during the postneonatal period than non-Hispanic whites (AHR, 6.36, 95% CI, 1.52-26.60). CONCLUSION: DWS has one of the largest black-white disparities in postneonatal survival. This underscores the importance of evaluating racial disparities in infant mortality by specific conditions in order to formulate targeted interventions to reduce disparities.

Dandy-Walker syndrome, associated anomalies and survival through infancy: a population-based study.

OBJECTIVES: To assess infant mortality patterns associated with Dandy-Walker syndrome (DWS) and the impact of concomitant anomalies. METHODS: Data for this study were obtained from the New York State Congenital Malformations Registry, an ongoing population-based validated surveillance system. RESULTS: The 196 cases of DWS had a high infant mortality rate (250/1,000), and the elevated risk correlated positively with additional anomalies in a dose-effect pattern (p for trend <0.01). Infants with DWS and two or more affected organ systems were about 6 times as likely to die postneonatally than their counterparts with isolated DWS [adjusted hazards ratio (AHR) = 6.01; 95% CI = 1.52-24.21]. CONCLUSION: This study confirms the widely held notion that DWS is a heterogeneous rather than a homogeneous entity as shown by the dissimilar infant survival patterns found.

Dandy-Walker malformation as sonographic marker for fetal triploidy.

Fetal triploidy is a frequent reason for early abortion, and only few fetuses survive into the second trimester of pregnancy. Common sonographic markers for triploidy in the second trimester are severe asymmetric growth restriction (triploidy of maternal origin) and partial molar changes of the placenta (triploidy of paternal origin), together with structural fetal malformations. We report prenatal sonographic findings of thirteen triploid fetuses between 18 and 34 weeks' gestational age (eleven fetuses with 69, XXX, and two fetuses with 69, XXY). Intrauterine growth restriction (11/13 fetuses), oligohydramnios (8/13), bilateral cerebral ventriculomegaly (6/13), structural heart defects (4/13), and Dandy-Walker malformation or Dandy-Walker variant (4/13) were the most frequent findings. We conclude that the Dandy-Walker malformation and Dandy-Walker variant should be considered as additional sonographic markers for fetal triploidy.

The Dandy-Walker syndrome--a 10-year experience of its management and outcome.

Hydroephalus of childhood may be associated with intracranial haemorrhage, infection, aqueductal stenosis, Arnold-Chiari malformation (spina bifida), tumours or more uncommonly with the Dandy-Walker syndrome (DWS). We present our experience with the management of this condition over a 10-year period. Twelve children with a definite diagnosis of DWS are reviewed with regard to the age at diagnosis, investigations, treatment, associated problems and overall outcome. Two patients died; there was a high incidence of mental retardation (65%) and associated problems. All but one child had ventriculo-peritoneal shunting and two had cysto-peritoneal shunts in addition to their V-P shunts. There were no familial cases; one child had a chromosomal abnormality. Although the long-term outcome is dismal in most cases, about 35% of the children have a reasonable outcome and hence the condition warrants energetic treatment.

Dandy-Walker malformation: analysis of 38 cases.

Thirty-eight cases of Dandy-Walker malformation (DWM) are presented. A female predominance of 3:1 was found. Thirty-two cases (84%) were diagnosed within the 1st year of life. Of these, 17 cases (44.7%) were diagnosed at birth. Ten (26%) were delivered by cesarean section. Thirteen infants (34%) had a birth weight below 3000 g. Several associated malformations were observed, the most frequent being capillary angioma (6 cases); cardiac malformations, ophthalmic anomalies, agenesis of the corpus callosum, malformed limbs, and occipital meningocele were also seen. These observations indicate that DWM represents a disorder of the midline central nervous system indicative of marked genetic and etiologic heterogeneity with the possibility of showing clinical and pathological alterations intra- and extracranially. Macrocephaly was the most frequent physical finding, appearing in 31 cases (82%). Seventeen (44.7%) patients died, 11 before 6 months of age, 3 between 6 and 12 months, and 3 after 1 year. Postmortem studies were performed in 13 patients. Three cases have been lost to follow-up. Mental retardation (IQ below 70) was found in 11 cases (58% of survivors), low intellect (IQ between 70 and 85) in 4, and only 2 patients showed normal intellectual development (IQ more than 85). The high incidence of malformations having several genetic and environmental origins, as well as the high early mortality of patients with DWM, indicate the complexity of this syndrome, which involves the midline developmental field structures. It is not an isolated malformation of the posterior fossa in most cases.

Management of the Dandy-Walker syndrome.

The charts of 50 patients with the Dandy-Walker Syndrome were reviewed. Initial therapy was cystoperitoneal (CP) shunt in 21 (42%), ventriculoperitoneal (VP) shunt in 13 (26%), and both (CPVP) in 7 (14%), with the remaining 9 (18%) requiring no shunting procedure. Conversion from single to double shunt secondary to expansion of the unshunted compartment occurred in 9 (42%) of CP only and 4 (30%) of VP only patients. Final therapy was CP in 12 (24%), VP in 9 (18%), CPVP in 20 (40%) and none in 9 (18%). Patients who were unshunted remained shunt-free. When CPVP shunts were present, there was a statistically significant probability that shunt malfunction was due to the CP component only or both components, but not the VP component only. However, there was no statistical difference in malfunction or complication rates between patients with CP only or VP only shunts. Associated anomalies, intellectual outcome, and mortality were also analyzed. Seizures, hearing or visual problems, various CNS abnormalities, and systemic abnormalities were associated with poor intellectual development and could be used to predict intellectual outcome.

Dandy-Walker syndrome: analysis of 21 cases.

During the years 1950 to 1978, a total of 21 cases of Dandy-Walker syndrome were seen at the Vancouver General Hospital. Apart from hydrocephalus, the associated brain anomalies included agenesis of the corpus callosum in four cases, occipital meningocele in two and aqueductal stenosis in one patient. Systemic malformations were present in four patients and included two cases of cleft palate, one of polycystic kidneys and one of congenital rubella syndrome. The over-all mortality was 48 per cent, but has declined since 1965. Of the 12 cases treated surgically, only four have died. The number of shunt revisions was high (about two per patient). Of the 11 survivors, three have normal intelligence, four show mild mental retardation, and four are moderately to severely retarded. The differential diagnosis, clinical course and surgical therapy are discussed. It is recommended that double shunting of a lateral ventricle and of the enlarged fourth ventricle should be the primary procedure in cases associated with aqueductal stenosis or occlusion, and should be the secondary procedure in patients who exhibit recurrence of increased pressure in the posterior fossa after simple shunting of a lateral ventricle.