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Objective The study aims to demonstrate the value of the 'tail sign' in the assessment of Dandy-Walker malformation. Methods A total of 31 fetal magnetic resonance imaging (MRI), performed before 24 weeks of gestation after second-line ultrasound examination between May 2013 and September 2014, were examined retrospectively. All MRI examinations were performed using a 1.5 Tesla magnet without maternal sedation. Results Magnetic resonance imaging diagnosed 15/31 cases of Dandy-Walker malformation, 6/31 of vermian partial caudal agenesis, 2/31 of vermian hypoplasia, 4/31 of vermian malrotation, 2/31 of Walker-Warburg syndrome, 1/31 of Blake pouch cyst and 1/31 of rhombencephalosynapsis. All data were compared with fetopsy results, fetal MRI after the 30th week or postnatal MRI; the follow-up depended on the maternal decision to terminate or continue pregnancy. In our review study, we found the presence of the 'tail sign'; this sign was visible only in Dandy-Walker malformation and Walker-Warburg syndrome. Conclusion The 'tail sign' could be helpful in the difficult differential diagnosis between Dandy-Walker, vermian malrotation, vermian hypoplasia and vermian partial agenesis.

Dandy-Walker syndrome (DWS), or Dandy-Walker complex, is a congenital brain malformation of the posterior fossa, typically resulting in developmental delay and cognitive disability. The co-occurrence of Down syndrome (DS) and DWS is relatively uncommon; thus, its impact on developmental outcomes has not been fully elucidated. Herein, we report a case of a 37-month-old child with DS and DWS, who is functioning at the following age-equivalent: gross motor at a 9-mo level, fine motor 6 mo, expressive language 14 mo, receptive language 9 mo. As such, it is important to determine how the DWS influences developmental outcomes, and appreciate the importance of early interventional therapy.

The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies.

Background In non-communicating hydrocephalus (HC), enlarged cerebral ventricles are often thought to reflect increased intracranial pressure (ICP) or increased pulsatile ICP. The present study was undertaken to explore the association between ventricular volume measures and pulsatile or static ICP scores in patients with non-communicating HC. Since linear measures of ventricular size have the most widespread use, we also examined how linear and volume measures of ventricular size compare. Methods The patient material includes all patients with non-communicating HC that underwent continuous over-night ICP monitoring during the period 2002–2011. The scores of pulsatile and static ICP were determined from the continuous ICP signals stored on the hospital server. Ventricular volume was determined both as linear measures of sectional CT or MR images and as 3D volume of all ventricles. We also determined the ventricular volume index as a relationship between ventricular volume and intracranial volume. Results Eighty-five patients were included in the study; they were dichotomized into those that previously had not received endoscopic third ventriculostomy (ETV; n = 52; Group 1), and those that had previously underwent ETV (n = 33; Group 2). None was previously shunted. We found no significant correlations between the ICP scores and the ventricular volume indices in neither of the patient groups. In Group 1, however, the mean ICP wave amplitude was significantly higher than in Group 2. There was a strong positive correlation between volume and linear measures of ventricular size. We found neither any association between age and ventricular volume; nor any association between ventricular volume and duration of symptoms. Conclusions In this cohort of patients with non-communicating HC, we found no evidence of a proportional correlation between ventricular volume and pulsatile or static ICP. However, the findings suggest that symptomatic and untreated non-communication HC is still associated with reduced intracranial compliance.

Background: Dandy-Walker syndrome (DWS) is a congenital disorder often diagnosed in early childhood. Typically manifesting with signs/symptoms of increased intracranial pressure, DWS is catastrophic unless timely neurosurgical care can be administered via cerebrospinal fluid (CSF) drainage. The rates of mortality, adverse discharge disposition (ADD), and CSF drainage in DWS may not be uniform regardless of race, gender or insurance status; such differences could reflect disparities in access to neurosurgical care. This study examines these issues on a nationwide level. Materials and Methods: The Kids’ Inpatient Database spanning 1997-2003 was used for analysis. Only patients admitted for DWS (ICD-9-CM = 742.3) were included. Multivariate analysis was adjusted for several variables, including patient age, race, sex, admission type, primary payer, income, and hospital volume. Results: More than 14,000 DWS patients were included. Increasing age predicted reduced mortality (OR = 0.87; P < 0.05), ADD (OR = 0.96; P < 0.05), and decreased likelihood of receiving CSF drainage (OR = 0.86; P < 0.0001). Elective admission type predicted reduced mortality (OR = 0.29; P = 0.0008), ADD (OR = 0.68; P < 0.05), and increased CSF drainage (OR = 2.02; P < 0.0001). African-American race (OR = 1.20; P < 0.05) and private insurance (OR = 1.18; P < 0.05) each predicted increased likelihood of receiving CSF drainage, but were not predictors of mortality or ADD. Gender, income, and hospital volume were not significant predictors of DWS outcome. Conclusion: Increasing age and elective admissions each decrease mortality and ADD associated with DWS. African-American race and private insurance status increase access to CSF drainage. These findings contradict previous literature citing African-American race as a risk factor for mortality in DWS, and emphasize the role of private insurance in obtaining access to potentially lifesaving operative care.

Background: Neural tube defects (NTDs) are a group of congenital malformations of the neural tube. The incidence of NTDs in Pakistan is 13.90 per 1000 deliveries. Such type of study in our setup is conducted for the first time which shows that different varieties of (NTDs) are seen commonly in our setup also. Methods: This descriptive study was conducted in department of Neurosurgery of Liaquat University Hospital Jamshoro, Sindh Pakistan with collaboration of department of Anatomy of Liaquat University of Medical and Health Sciences Jamshoro to determine the frequency and variations of neural tube defects seen in this institution. 45 patients with (NTDs) were included in the study. O ut of 45 patients 18 were males and 27 were females. All were admitted through the outpatient department. The type of anomaly was recorded with other bio data. Results: In this study Hydrocephalous accounts for 25 cases (55.5%), hydrocephalus with meningocele in 01 case (2.2%) and hydrocephalus with encephalocele in 02 cases (4.4%) in addition is seen. Myelomeningocele seen in 04 cases (8.8%), Meningocele in 06 cases (13.3%), congenital dermal sinus and dandy walker syndrome 01 (2.2%) cases of each, also seen in this study 01 cases of Lipomyelocele with mengiocele and 01 case of Encephalocele with microcephaly which accounts for 2.2% of all neural tube defects. Conclusions: The high occurrence of NTDs observed in this study calls for a special attention. A nationwide surveillance can recognize the disease burden in pre & post-natal period and related risk factors to plan future strategies for prevention, early diagnosis and timely management.

We are beginning to understand the molecular biology of hydrocephalus and its related diseases. X-linked hydrocephalus (XLH), holoprosencephaly (HPE), Dandy–Walker malformation (DWM), and neural tube defect (NTD) can all be discussed with respect to their available molecular genetics knowledge base and its clinical applications. XLH is single gene disorder caused by mutations in the neural cell adhesion molecule-encoding L1CAM (L1) gene. Our knowledge of the molecular basis of XLH is already being applied clinically in disease diagnosis, disease classification, and prenatal diagnosis. However, the molecular mechanism underlying XLH-related hydrocephalus still needs to be clarified. Sixteen causative genes for HPE have been identified, of which mutations are most often found in SHH, ZIC2, SIX3, and TGIF. Genetic interactions, gene complexity, and the wide variety of HPE phenotypes and genotypes are topics for future study. For DWM, two important loci, 3q24, which includes the FOXC1 gene, and 6q25.3, which includes the ZIC1 and ZIC4 genes, were recently identified as causative areas. The planar cell polarity (PCP) genes CELSR1, CELSR2, VANGL1, and VANGL2 have been implicated in NTD; these genes have roles in neural tube closure and ependymal ciliary movement.

Background: Dandy-Walker syndrome (DWS) is a congenital disorder typically manifesting with hydrocephalus. The classic anatomic hallmarks of DWS are hypoplasia of the cerebellar vermis, anterior-posterior enlargement of the posterior fossa, upward displacement of the torcula and transverse sinuses, and cystic dilatation of the fourth ventricle. Aims: Although optimal treatment of DWS typically requires neurosurgical intervention to prevent intracranial pressure increases incompatible with life, the natural history of this disorder has yet to be evaluated on a nationwide level. Settings and Design/Materials and Methods: The Kids’ Inpatient Database covering 1997-2003 was used for analysis. Children younger than age 18 admitted for DWS (ICD-9-CM = 742.3) were analyzed with a matched control group. The primary procedure codes for operative CSF drainage were coded into the analysis. The incidence of DWS was 0.136%; 14,599 DWS patients were included. Statistical Analysis Used: Multiple logistic regression models were used. Odds ratios (OR) were reported with 95% confidence intervals. Results and Conclusions: Mortality (OR = 10.02; P < 0.0001) and adverse discharge disposition (OR = 4.59; P < 0.0001) were significantly greater in DWS patients compared with controls. 20.4% of DWS patients received operative cerebrospinal fluid (CSF) drainage, 81-times more than controls (P < 0.0001). CSF drainage reduced mortality by 44% among DWS patients (P < 0.0001). Although DWS is associated with a 10-fold increase in mortality, operative CSF drainage nearly halves the mortality rate. Based on these findings (Class IIB evidence), it is likely that the increased mortality associated with DWS is directly attributable to the nearly 80% of DWS patients who did not receive operative CSF drainage for hydrocephalus. Consequently, increased access to neurosurgical intervention could reduce the mortality rate of DWS towards that of the general population.

To describe a case of bilateral cystoid macular edema in a patient with Dandy-Walker syndrome. An 18-year-old male was referred to our tertiary referral center for evaluation of his decreased visual acuity. Detailed ophthalmic examination and imaging revealed the presence of bilateral cystoid macular edema, which was successfully treated with intravitreal triamcinolone injections (2 mg in 0.05 ml). Recurrence of macular edema developed after a period of approximately four months. This is an unusual ophthalmic manifestation of Dandy-Walker syndrome. Cystoid macular edema should be included in the differential diagnosis of subjects with Dandy-Walker syndrome presenting with decreased vision. The pathogenetic mechanism for the development macular edema in this case is not clear. Intravitreal triamcinolone is an effective treatment, but edema was recurrent in our case. Other approaches (such as oral Acetazolamide or intravitreal Anti-VEGF) have to be considered as well.

Sir, The coexistence of rare congenital neurodevelopmental and craniofacial abnormalities make proper positioning for endotracheal intubation difficult and alternative methods of positioning and intubation must be sought for. Although difficult airway cart should be in hand, one must give emphasis on proper positioning of patient. A sound knowledge and proper laryngoscopy by experienced anaesthesiologist results in successful intubation even in cases of anticipated difficult airway and thus, prevents the need of surgical airway. We report a rare case of an 8-month-old child weighing 5 kg with Dandy–Walker syndrome (DWS) associated with a giant occipito-cervical meningocele and craniovertebral anomalies, and posted for shunt surgery. Pre-anaesthetic check-up suggested no history of seizure, vomiting, difficulty in feeding, cyanosis or respiratory distress. There were no cardiac or respiratory signs. Power in all limbs was equal. The child had a large head and a giant occipital cervical meningocele measuring 10 cm × 10 cm, extending from occipital protuberance to mid scapula, causing fixed flexion of the neck [Figure 1]. Magnetic resonance imaging (MRI) of the brain showed enlarged posterior fossa with multiple craniovertebral anomalies with meningocele in occipital and upper cervical region communicating with fourth ventricle, hypoplasia of inferior vermis coupled with hypoplasia of cerebellar hemisphere, suggestive of DWS with occipital meningocele. MRI spine [Figure 2] showed multiple craniovertebral anomalies such as cranial bifida and spina bifida in upper cervical vertebrae coupled with occipito-cervical meningocoele. Figure 1 Extension of occipita cervical swelling along with large head Figure 2 Magnetic resonance imaging spine showing huge occipita cervical meningocele On arrival of the child in the operation theatre, monitoring was established with an electrocardiogram pulse oximeter non-invasive blood pressure (BP) and temperature probe. Baseline parameters included BP of 94/70 mmHg pulse rate of 118/min and oxygen saturation of 100%. Injection glycopyrrolate 0.02 mg intravenous (IV) and injection fentanyl 5 μg was given in the cannula in situ. As there was a large and firm swelling at occipito-cervical region along with flexed neck with no neck movement, supine positioning could not be done in our case. The patient was positioned in the left lateral position with head beyond the edge of the table with an assistant stabilising the head of the baby from below and other supporting the body. After pre-oxygenation with 100% oxygen, injection thiopentone IV was administered in titrated manner, and a total of 20 mg was injected. Check laryngoscopy in lateral position was done with Miller's straight blade one by the senior anaesthesiologist. Laryngoscopy revealed Cormack–Lehane laryngeal view Grade 2. Injection succinylcholine, 10 mg IV was administered and eventually trachea was intubated with no. 3.5 mm uncuffed endotracheal tube. After confirmation of bilateral equal air entry, the endotracheal tube was fixed. Injection atracurium 2.5 mg was given, and anaesthesia was maintained with nitrous oxide-oxygen and sevoflurane (1%). Paracetamol 80 mg suppository was placed for post-operative analgesia. Once the tube was properly fixed, the patient was positioned supine by placing large ring under the head and large cotton roll under shoulder for proper surgical field view. All the pressure points were adequately padded. Intraoperative course was uneventful. After completion of surgery, neuromuscular blockade was reversed with injection neostigmine 0.4 mg and injection glycopyrrolate 0.008 mg. Extubation was performed once the patient became awake. After satisfactory recovery, the patient was shifted to paediatric Intensive Care Unit. DWS although a rare clinical entity with incidence being about 1 in 25000-30000 live births with a slight female predominance.[1,2] It is often associated with other congenital anomalies such as cleft lip, cleft palate, hypertelorism and micrognathia making airway management challenging.[3] Ewart and Oh reported a case of 2 weeks old DWS patient with micrognathia and anterior larynx in whom they found difficulty in awake intubation.[4] Our child was positioned laterally during induction and intubation. An alternative technique such was suggested by Mowafi et al.[5] in which child was placed supine in silicon platform so that height of silicon platform equals the size of the sac. We did not go for this technique as the occipital swelling was extending until mid-scapula, making positioning more difficult. Other major concern in patients of DWS is avoidance of further rise in intracranial pressure (ICP). Endotracheal intubation should be as gentle as possible. Inhalational agent causes a dose-dependent rise in intracranial pressure and so better avoided. However, it has been shown that isoflurane and sevoflurane in

Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. In all four cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging [X-ray, computed tomography (CT), magnetic resonance imaging (MRI)] data. Two patients were diagnosed with Dandy-Walker complex, one patient was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis and one patient was diagnosed with a posterior fossa arachnoid cyst associated with left-sided Claude Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal reflux. In all forms of DWC, the clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures.

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.

Dandy Walker Syndrome is hydrocephalus associated with a posterior fossa cyst and dysgenesis of the cerebellum.1 It is a rare abnormality of CNS with reported incidence of 1 in 25000 live births.2 This is a case of 5 year old male case with truncal attaxia, dysarthric, scanning speech, hypotonia, occular dysmetria, poor pursuit, poor fine motor control and poor balance and coordination. An early diagnosis resulted in early intervention in motor, speech, psychological and pre academics skills at child development centre. This case is successfully managed with conservative rehabilitation plan preparing him for normal school.

This submission presents a case of scoliosis in a patient with established Dandy-Walker anomaly of the brain. A retrospective review of the patient's case notes was undertaken and the limited literature on this subject reviewed. The 13-year-old girl presented with a stiff right thoracic scoliosis typical of adolescent idiopathic scoliosis. The scoliotic segment also presented with significant lordosis. She had facial and truncal dysmorphism characteristic of Dandy-Walker complex and her brain images confirmed the diagnosis. She underwent scoliosis surgery by the posterior approach uneventfully. In conclusion scoliosis is hitherto unreported in the Dandy-Walker complex. The results of intervention appear satisfactory.

The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features. Posterior fossa abnormalities (ranging from Dandy-Walker malformation to isolated hypoplasia of the cerebellar vermis) were consistently observed in addition to other variable neuroradiological abnormalities such as hydrocephalus and abnormal brain myelination. One patient also had a multicystic kidney. Whole exome sequencing revealed 2 probably pathogenic homozygous variants in KCTD3 gene that fully segregated with the disease. KCTD3 gene belongs to a family of accessory subunits that regulate the biophysical properties of ion channels, and is highly expressed in the kidney and brain. In this largest series to date on KCTD3-mutated patients, we show that biallelic loss of function mutations in KCTD3 lead to a consistent phenotype of developmental epileptic encephalopathy and abnormal cerebellum on brain imaging.

Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome. Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. CPG137 . Registered 03 March 2017.

To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.Alteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.

Background Trisomy 10 is very rarely diagnosed, especially in living persons. Most reports of trisomy 10 pertain to prenatal diagnosis of trisomy 10 in the fetus. In addition, trisomy 10 has been reported as part of partial chromosomal abnormalities in some leukemic cells and tumor specimens. Only 6 cases of mosaicism trisomy 10 have been reported so far. None of these reports pertain to living children with neurological abnormalities. Case presentation We report the case of a 14-month-old girl who was brought for treatment of unusual facies, growth retardation, and patent ductus arteriosus. Karyotype analysis revealed a 47, XX, + 10/46, XX pattern. MRI showed characteristics of Dandy–Walker syndrome and ventricular enlargement in the brain. Conclusions This case is distinguished by its extreme rarity and its potential for use as a reference case of this condition in clinical settings.

Heterozygous hepatocyte nuclear factor-1-α gene (italicHNF1A/italic) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused byitalicHNF1B/italicmutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported.italicHNF1A/italicmutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, theitalicHNF1B/italicgene had no mutations. Array comparative genomic hybridization analysis identified a de-novo interstitial 12q24.22-q24.31 deletion of 5.6 Mb encompassing theitalicHNF1A/italicgene, which is compatible with a diagnosis of MODY3. The variety of phenotypes suggests a novel microdeletion syndrome spanning theitalicHNF1A/italicgene. BecauseitalicHNF1B/italicfunctions as anitalicHNF1A/HNF1B/italicheterodimer, haploinsufficientitalicHNF1A/italicinteracts with a certainitalicHNF1B/italichaplotype. The resulting truncated heterodimer might engender renal cysts. More patients with well-defined deletion within 12q.24.31 must be evaluated to produce a detailed genotype-phenotype correlation and to elucidate this emerging microdeletion syndrome. .

Objective: Dandy-Walker syndrome (DWS) is a rare neurologic multi-entity malformation. This review aimed at reporting its main nonneurologic comorbidities. Methods: Following PRISMA guidelines, search in Medline was conducted (2000-2014, keyword: dandy-walker). Age, sex, country, DWS type, consanguinity or siblings with DWS, and recorded coexistent conditions (by ICD10 category) were extracted for 187 patients (46.5% male, 43% from Asia) from 168 case reports. Results: Diagnosis was most often set in 12 years old (27.8%). One-third of cases had a chromosomal abnormality or syndrome (n = 8 PHACE), 27% had a cardiovascular condition (n = 7 Patent Ductus Arteriosus), 24% had a disease of eye and ear (n = 9 cataract); most common malignancy was nephroblastoma (n = 8, all Asian). Almost one-fifth had a mental illness diagnosis; only 6.4% had mild or severe intellectual disability. Conclusion: The spread of comorbidities calls for early diagnosis and multidisciplinary research and practice, especially as many cases remain clinically asymptomatic for years.

Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa.We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellin, in the Department of Antioquia, Colombia.Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases.Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome.Descripcion fenotipica de 26 pacientes con sindrome de Ritscher-Schinzel (displasia craneo-cerebelo-cardiaca o sindrome 3C).Introduccion. El sindrome de Ritscher-Schinzel (tambien conocido como displasia craneo-cerebelo-cardiaca o sindrome 3C) es un sindrome genetico raro que se caracteriza principalmente por la asociacion de anomalias cardiacas, craneofaciales y de la fosa posterior. Pacientes y metodos. Se describen 26 pacientes con sindrome de Ritscher-Schinzel pertenecientes a un hospital de Medellin en el departamento de Antioquia, Colombia. Resultados. La presente cohorte esta compuesta en un 69% por hombres. La mediana de edad de la cohorte fue de 30 meses y el 42% tenia menos de 1 año de edad en el momento del diagnostico. Todos presentaban afectacion ocular, y la megalocornea fue la manifestacion ocular mas frecuente (69%), mientras que las orejas de implantacion baja (80,7%) y los defectos cardiacos septales (68,7%) fueron las malformaciones faciales y cardiacas mas comunes, respectivamente. Las malformaciones de la fosa posterior mas frecuentes fueron megacisterna magna (31,8%) y malformacion de Dandy-Walker (27%). El 84% tenia retraso del neurodesarrollo o discapacidad intelectual. Las manifestaciones esqueleticas fueron frecuentes: el conjunto de camptodactilia, pliegue palmar unico, dedos sobrelapados, astragalo vertical e hipoplasia ungueal en las manos y los pies se hallo en el 96% de los casos. Conclusiones. El sindrome de Ritscher-Schinzel es heterogeneo desde el punto de vista genetico y clinico. Estos resultados sugieren que las anormalidades esqueleticas y oculares observadas pueden facilitar el diagnostico fenotipico. No obstante, es necesario realizar estudios adicionales que permitan conocer mejor su prevalencia y facilitar la identificacion de otros genes implicados en este sindrome.

Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies.We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014. Chiari II and Dandy-Walker malformations were excluded from our study population. Karyotype and/or array comparative genomic hybridization were performed in all cases. Targeted Sanger sequencing or next generation sequencing were carried out in 34 and 5 cases, respectively.We distinguished four groups of pathological entities: (1) midbrain/hindbrain patterning defects (54 cases, 42%), mainly related to aqueduct of Sylvius anomalies (atresia or stenosis); (2) cerebral cytoarchitectonic disorders (16 cases, 12%), essentially resulting from arachnoidal neuroglial ectopia; (3) hemorrhagic and perfusion failure (42 cases, 32%); and (4) nonspecific CVD (18 cases, 14%), without apparent obstruction, cortical malformation, or clastic injury. Although the pathogenic mechanisms of CVD were identified in 86% of cases, the causes, both acquired and genetic, were recognized in 21% of cases only.The neuropathological analysis is a powerful tool in the diagnosis of the fetal CVD pathogenic mechanisms and to identify homogeneous groups. The paucity of molecular diagnosis, notably in the major groups of midbrain/hindbrain patterning defects and hemorrhagic and perfusion failure, highlights the needs of future research to improve our current knowledge on CVD causes. Birth Defects Research 109:1586-1595, 2017. © 2017 Wiley Periodicals, Inc.

Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies. Prenatal echocardiography at 30 weeks of gestation revealed a defect between the main and right pulmonary arteries and the ascending aorta (type III). The patient was born at 38 weeks of gestation via caesarean delivery, and was admitted to the neonatal intensive care unit because of respiratory failure and multiple congenital anomalies. Postnatal echocardiogram and cardiac MRI confirmed the prenatal findings. In addition, this patient had severe Dandy–Walker malformation and renal anomalies with poor prognosis. The family decided to withdraw respiratory care support on day of life 4, and the neonate passed away shortly after.

Dandy Walker Syndrome (DWS) is a congenital malformation with brain abnormalities, intellectual disabilities, epilepsy and visible structural changes in particular brain structures. We present here a case of psychosis in an 18-year-old male with DWS, epilepsy and intellectual disability. The purpose of this paper is to discuss the clinically relevant issues, psychopharmacological issues, neuropsychiatric manifestations and consultation liaison issues involved.

RESUMEN: Introducción. El síndrome de Ritscher-Schinzel (también conocido como displasia cráneo-cerebelo-cardíaca o síndrome 3C) es un síndrome genético raro que se caracteriza principalmente por la asociación de anomalías cardíacas, craneofaciales y de la fosa posterior. Pacientes y métodos. Se describen 26 pacientes con síndrome de Ritscher-Schinzel pertenecientes a un hospital de Medellín en el departamento de Antioquia, Colombia. Resultados. La presente cohorte está compuesta en un 69% por hombres. La mediana de edad de la cohorte fue de 30 meses y el 42% tenía menos de 1 año de edad en el momento del diagnóstico. Todos presentaban afectación ocular, y la megalocórnea fue la manifestación ocular más frecuente (69%), mientras que las orejas de implantación baja (80,7%) y los defectos cardíacos septales (68,7%) fueron las malformaciones faciales y cardíacas más comunes, respectivamente. Las malformaciones de la fosa posterior más frecuentes fueron megacisterna magna (31,8%) y malformación de Dandy- Walker (27%). El 84% tenía retraso del neurodesarrollo o discapacidad intelectual. Las manifestaciones esqueléticas fueron frecuentes: el conjunto de camptodactilia, pliegue palmar único, dedos sobrelapados, astrágalo vertical e hipoplasia ungueal en las manos y los pies se halló en el 96% de los casos. Conclusiones. El síndrome de Ritscher-Schinzel es heterogéneo desde el punto de vista genético y clínico. Estos resultados sugieren que las anormalidades esqueléticas y oculares observadas pueden facilitar el diagnóstico fenotípico. No obstante, es necesario realizar estudios adicionales que permitan conocer mejor su prevalencia y facilitar la identificación de otros genes implicados en este síndrome. ABSTRACT: Introduction. Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. Patients and methods. We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellín, in the Department of Antioquia, Colombia. Results. Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. Conclusions. Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome. COL0012426

Dandy-Walker syndrome is a challenging medical syndrome. The outcome of this syndrome is frequently disappointing, causing patient’s family distress and treating neurosurgeons unsatisfaction. There is no general consensus on the best method to manage this syndrome as it is very difficult to predict its outcome. One of the main causes of confusion is the enormous varieties of Dandy-Walker syndrome (DWS). Therefore, it is very important to tailor the management for each case according to the specific findings and conditions of that case. DWS is usually treated surgically by ventriculoperitoneal (VP) shunt or cystoperitoneal shunt, or both. There are some successful trials of endoscopic third ventriculostomy (ETV) as well. In most of the cases, the decision was made according to the surgeon’s experience.

Inherited cerebellar malformations cause lifelong disability and are not well studied in the newborns because there is a lack of appropriate clinical examination tools. Recently, inherited cerebellar malformations have been investigated using emerging advanced neuroimaging technology such as MRI, which revealed many cerebellar developmental disorders. These malformations cause impairments that involve motor and non-motor functions. Cerebellar hypoplasia, Dandy–Walker syndrome, Joubert syndrome, pontocerebellar hypoplasia, and rhombencephalosynapsis are examples of cerebellar malformations. In this chapter we will focus on cerebellar malformations that have been reported using characteristic symptoms and signs. The current approach for evaluation of the affected patients, differential diagnosis, and management will be discussed.

A naturalistic observational single case study was carried out to investigate the form and function of private speech (PS) in a young man with Dandy–Walker variant syndrome and trisomy 22. Video recordings were observed, transcribed and coded to identify all combinations of type and form of PS. Through comparison between theories of PS and the results, five putative functions were identified in this case. In contrast to the predominant theoretical models of inner and PS, it is proposed that PS cannot necessarily be reduced to a single functional definition.

Objectives To apply fetal midbrain (MB) and hindbrain (HB) nomograms, developed using three-dimensional multiplanar sonographic reconstruction (3D-MPR) in the mid-sagittal cranial plane, to fetuses with known posterior fossa malformations. Methods In this retrospective study we examined sonographic volumes obtained by sagittal acquisition in 43 fetuses diagnosed with posterior fossa abnormalities and evaluated in the mid-sagittal cranial plane, using 3D-MPR, the following: MB parameters tectal length (TL) and anteroposterior midbrain diameter (APMD), and HB parameters anteroposterior pons diameter (APPD), superoinferior vermian diameter (SIVD) and anteroposterior vermian diameter (APVD). Fetuses were grouped, according to malformation, into eight categories: cobblestone malformation complex (CMC, n = 3), Chiari-II malformation (C-II, n = 7), pontocerebellar hypoplasia (PCH, n = 2), rhombencephalosynapsis (RES, n = 4), Dandy–Walker malformation (n = 8), vermian dysgenesis (VD, n = 7), persistent Blake's pouch cyst (n = 6) and megacisterna magna (n = 6). In each case and for each subgroup, the MB-HB biometric parameters and their z-scores were evaluated with reference to our new nomograms. Results The new MB-HB nomograms were able to identify the brainstem and vermian anomalies and differentiate fetuses with MB-HB malformations from those with isolated enlarged posterior fossa cerebrospinal fluid spaces. Use of the nomograms enabled detection of an elongated tectum in fetuses with CMC, C-II and RES, and a flattened pontine belly in cases of CMC, PCH and VD. In the fetuses with VD, the nomograms enabled division into three distinctive groups: (1) those with small SIVD and APVD, (2) those with normal SIVD but small APVD, and (3) those with small SIVD but normal APVD. Conclusions Application of our new reference data, that for the first time include the MB, enables accurate diagnosis of brain malformations affecting the MB and HB and makes possible novel characterization of previously described features of posterior fossa anomalies. Copyright © 2014 ISUOG. Published by John Wiley & Sons Ltd.

Recommendations for distal femoral fracture treatment in children with neuromuscular disease are various, including conservative, plating, nailing, and ESIN. All methods have disadvantages. Retrograde femoral intramedullary nailing using a statically interlocked Targon PH nail was performed in three cases. A right nail was used for a right femur (and vice versa). A short nail was used for supracondylar fractures, a long nail for distal femoral shaft fractures. Closed reduction was performed in all cases. Despite osteopenia, small bone dimensions and muscle dystrophy, no intraoperative or postoperative complications occurred. All cases achieved primary stability, allowing immediate rehabilitation. Bone healing occurred uneventfully within four months. No deterioration of functional status or range of motion was seen. There were no peri-implant fractures or hardware removal need over a two-year-period. Retrograde femoral nailing with the Targon PH nail seems to be a reasonable treatment concept for these rare and demanding cases. Level of evidence IV.

A neonate presented with Dandy walker syndrome associated with occipital meningocele manifesting as soft tissue mass on the skull. Computed tomography demonstrated a large posterior fossa cyst communicating between fourth ventricle and occipital meningocele and dilated ventricular system (hydrocephalus).

Objectives Dandy–Walker syndrome is a rare disorder characterised by complete or partial agenesis of the vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa. The precise aetiology is unknown, although there have been reports of associations with risk factors like maternal virus infections (rubella, toxoplasma, and cytomegalovirus) and alcohol consumption. The reported incidence varies between one per 2500 births to one per 100,000 births. This huge difference may be due to the limited published case series, as most of the available data are sporadic case reports or series. Methods A retrospective review was conducted of medical records of neonates with Dandy–Walker syndrome admitted to the neonatal intensive care unit of a university hospital between January 2001 and December 2010. Results Eight infants with Dandy–Walker syndrome were admitted during the study period, giving an overall incidence of 1/400 live births. The female-to-male ratio was 1.7:1 (one infant had ambiguous gender but was later found to be male). The mean gestational age was 39.0 weeks (range, 36–40 weeks), and the mean birth weight was 2716 g (range, 1965–3335 g). The syndrome was diagnosed in half the infants prenatally. All infants had associated hydrocephalus, and five had other neurological anomalies; extra-cranial anomalies were seen in 50% of infants. All infants survived to discharge. Conclusion Although many of our results were consistent with published data, the incidence of Dandy–Walker syndrome in our study was much higher than any reported previously. Further research is required to elucidate this unexpected finding.

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

Objectives To construct nomograms of the dimensions of the fetal posterior fossa (PF), assessed in the mid-sagittal plane in the second and third trimesters, and to assess how measurements from fetuses with PF abnormalities deviate from our normal ranges. Methods This was a prospective cross-sectional study of 378 healthy fetuses in low-risk singleton pregnancies between 15 and 35 weeks. PF size was evaluated in the mid-sagittal plane of the fetal head using three-dimensional multiplanar reconstruction (3D-MPR). The borders of the PF were defined from the clivus to the tentorium (clivotentorial distance, CTD) and from the occipital bone to the level of the upper mesencephalic edge (tecto-occipital distance, TOD), and the posterior fossa area (PFA) and perimeter (PFP) were assessed. Growth charts were produced. Thirty-nine fetuses diagnosed with PF malformations were analyzed by calculating the z-scores of PFA, PFP, TOD and CTD, relative to the developed nomograms. Results Of the 378 healthy fetuses initially included, there were 281 with adequate visualization of the PF borders; i.e. PF mid-sagittal plane morphometry was feasible in 74.3% of cases. There was a linear relationship between each of PFA, PFP, TOD and CTD, and gestational age, with Pearson correlation coefficients of 0.97, 0.97, 0.96 and 0.95, respectively (P

Intradiploic cerebrospinal fluid cysts are rare entities that have been reported to occur following trauma and surgery. We present a case of a 53-year-old female patient with an incidental intradipoloic cerebrospinal fluid cyst in communication with a Dandy-Walker malformation, likely related to a remote history of childhood surgery for occipital encephalocele.