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Background: Prenatal diagnoses of cystic malformations of the posterior fossa mainly encompass arachnoid cysts, Blake's pouch cysts and Dandy-Walker syndrome. To date, vermian cysts have not been reported prenatally. Objectives: To report a series of fetuses with a vermian cyst. Materials and methods: This was a single-center retrospective study conducted from 2012 to 2021. We included all fetuses presenting with a vermian cyst and excluded all other types of posterior fossa cyst. The cyst was visible at prenatal ultrasound (US) and/or magnetic resonance imaging (MRI). Postnatal imaging and/or clinical outcome data were available. Results: Sixteen fetuses fulfilled the inclusion criteria with a strong female predominance (n=13). US and MRI were performed at a mean gestational age of 29+5 and 33+1 weeks, respectively. In all patients, the cyst was in the vermian horizontal fissure. The mean longest dimension was about 10 mm. The vermis and other posterior fossa structures were otherwise normal. At postnatal imaging, 13 children underwent brain imaging including 11 MRIs with complete regression (n=9), stability (n=1) and increase in size (n=3) of the cyst. Psychomotor development was normal in 14 children. One child (with an inner ear malformation) showed a slight delay in walking and language acquisition. Slight walking ataxia was present in another child. Conclusion: We report 16 fetuses with posterior fossa cysts located within the vermis at the level of the horizontal fissure, diagnosed at US and/or MRI and carrying an overall excellent neurological prognosis. [ABSTRACT FROM AUTHOR]

Background: Dandy-Walker syndrome (DWS) is a rare congenital malformation of the central nervous system (CNS), characterized by underdevelopment or dysplasia of the cerebellar vermis, expansion of the fourth ventricle and posterior fossa cistern. The incidence is aboutapproximately 1/25000–1/35000. At present, the etiology and pathogenesis of DWS are not completely clear. It is mostly considered to be a multifactorial genetic disease that is related to both genetic factors and environmental factors. There is no large sample size analysis of the chromosomal profile of DWS up to now. This study aims to provide clinical reference for prenatal diagnosis via summarizing the clinical features and pregnancy outcomes of Dandy-Walker syndrome. Methods: A total of 76 cases of foetal Dandy-Walker syndrome out of 19,506 pregnant women underwent cordocentesis or amniocentesis for genetic detection. Rapid prenatal karyotyping, single nucleotide polymorphism array (SNP-array) and BACs-on-Beads™ (BoBs) were performed for prenatal genetic diagnosis. The results of ultrasonography, genetic analysis and pregnancy outcome were recorded. Results: Of the 76 cases, 19 were isolated DWS, while 57 cases were accompanied by other ultrasound-visible abnormalities. Ultrasound abnormalities of the CNS were most frequently observed, accompanied by DWS. Twenty-five out of 76 cases had chromosomal abnormalities, and the rate of chromosomal abnormalities increased in pregnant women of advanced maternal age or in combination with other ultrasound abnormalities. Of the 19 cases in the isolated DWS group, nine pregnant women chose to terminate the pregnancy, while seven cases continued the pregnancy and all infants were normal. Among the 57 pregnant women with pathological ultrasound manifestations other than foetal DWS, 44 chose to terminate the pregnancy, while 12 cases continued the pregnancy. Further follow-up revealed one newborn with postnatal neurodevelopmental delay. A female term neonate presented with very severe sensorineural deafness, and an infant died 7 days after birth with abnormal development of multiple organs. Conclusions: Pregnant women with DWS in foetal ultrasonic examination should be offered a careful and comprehensive foetal ultrasound scan and further prenatal genetic testing including karyotype analysis and SNP-array. The prognosis of the foetus without chromosomal aberration is good in isolated DWS pregnancies but poor in nonisolated DWS pregnancies. [ABSTRACT FROM AUTHOR]

Keratitis‐ichthyosis‐deafness syndrome is a rare genetic disease presenting with cutaneous, ocular, and otic defects. This comprehensive review provides insight into the clinical presentations, highlighting the cutaneous manifestations including histopathology and treatment options. [ABSTRACT FROM AUTHOR]

Dandy-Walker syndrome (DWS) has vermis agenesis or hypoplasia and cystic expansion of the fourth ventricle. Ophthalmic manifestations include nystagmus, cataracts, choroidal or iris coloboma, microphthalmia, palpebral ptosis, hypertelorism, strabismus, and hydrocephalus-related optic neuropathy. However, DWS with corneal perforation due to exposure keratopathy has not been reported. The author presents corneal perforation (CP) in the right eye of a child with DWS managed by cyanoacrylate glue and a multilayer amniotic membrane. The left eye had corneal thinning, and severe dry eyes were treated with tarsorrhaphy and punctual plugs. During a seizure, tarsorrhaphy opened and corneal perforation recurred, which was treated with bandage contact lenses and lubricating eye drops. [ABSTRACT FROM AUTHOR]

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This report describes a very rare Dandy-Walker malformation (DWM) associated with neurofibromatosis (NF) and bony defect over torcula emphasizing the role of meticulous follow-up for asymptomatic DWM. The clinical aspects of an adolescent patient with undiagnosed DWM who was asymptomatic until the age of 14 years are being discussed. Computed tomography and magnetic resonance imaging were revealed DWM. To our knowledge, this is the first report from India that describes a patient who has been diagnosed with DWM with associated NF with bony defect over torcula creating a management dilemma. [ABSTRACT FROM AUTHOR]

Introduction: The management of pediatric airway is of great challenge, especially when associated with congenital anomalies or acquired conditions like aspiration or tracheal stenosis. Cases: We present a case series of various conditions associated with anticipated difficult airway in pediatrics: An infant with Dandy-Walker syndrome and hydrocephalus, a toddler with history suggestive of foreign body aspiration 15 days back, and another infant presenting with post-intubation subglottic stenosis. Discussion: This case series describes the implications of various airway related challenges in pediatric patients whether congenital or acquired. Providing anesthetic care to infants adds to the risks as there are wide variations in anatomy, physiology and pharmacology when compared to older children. Therefore thorough pre-anesthetic evaluation of such patients is mandatory with special focus on airway examination. Conclusion: Considering the complexity of pediatric airway and associated anomalies, difficult airway should be anticipated in pediatric patients. Preparedness for the same along with optimal positioning increases the chances of successful intubation and reduces procedural complications. [ABSTRACT FROM AUTHOR]

Copyright of Logopaedica Lodziensia is the property of Wydawnictwo Uniwersytetu Lodzkiego and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Sanamed is the property of Sanamed and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Dandy-Walker syndrome is a rare inborn intracranial malformation consisting of partial or complete agenesis of the cerebellar vermis, an enlarged posterior fossa and cystic dilatation of the 4th ventricle. We herein report a case of Dandy-Walker syndrome detected incidentally during an urgent fetal ultrasound scan due to vaginal bleeding at 22 weeks of gestation. The couple decided termination of pregnancy, after adequate genetic counseling. Detailed postmortem examination revealed correlation between prenatal ultrasound findings and histopathology. Ultrasound can be used as the method for close monitoring antenatally, especially when pregnancy termination is preferred. Although, neuropathological examination is required in order to confirm this syndromic entity. [ABSTRACT FROM AUTHOR]

We report a case of hydrocephalus with Dandy-Walker malformation in a 2-month-old girl child recently recovered from COVID-19. The child was detected to have acyanotic heart disease with left-to-right shunt and severe pulmonary arterial hypertension during the preoperative evaluation process for ventriculoperitoneal (VP) shunt placement. We share our experience of the perioperative management for pulmonary artery banding (PAB) and patent ductus arteriosus ligation as a part of staged cardiac corrective surgery, followed by VP shunt to relieve hydrocephalus in the single setting. Our management was focused on the preservation of the normal cerebral and cardiac physiology to prevent rise in intracranial pressure and pulmonary artery pressure. A multidisciplinary team, consisting of cardiac- and neuroanesthesiologists and cardiac and neurosurgeons, was involved in management of the case. Diligent maintenance of airway, stable hemodynamics, meticulous ventilation, along with postoperative ICU management helped in the successful outcome of this unique case. [ABSTRACT FROM AUTHOR]

Dandy-Walker Syndrome (D-WS) is a rare disorder with an incidence of 1%–2% of all central nervous system anomalies. The diagnosis can be challenging, especially in the prenatal period. Here, we present an extremely rare case of D-WS associated with bilateral congenital cataracts. A 36 weeks and 6 days old male baby presented with a Dandy-Walker variant associated with bilateral congenital cataract. Ophthalmological examination revealed microphthalmos and congenital cataracts present in both eyes with sclerocornea, iris coloboma, and zone 3 retinopathy of prematurity involving only the right eye. However, the right eye was salvageable. Skull transillumination was negative with no cranial bruit. He was admitted to the neonatal intensive care unit with breathing difficulties, maintained SpO2 with oxygen through prongs, and noninvasive continuous positive airway pressure for 7 days. He had two episodes of hypoglycemia with hypothermia. There was no significant finding in sepsis evaluation. The abdominal ultrasonography was normal. Echocardiogram was suggestive of patent foramen ovale. Mother's torch panel tested positive for cytomegalovirus immunoglobulin G antibodies. Magnetic resonance imaging brain suggested variant D-WS with dilation of cerebellar fossa and occipital lateral ventricle horn and lack of usual corpus callus structure. Intravenous antibiotics cefotaxime and amikacin were administered along with fluid supplementation. He was shifted to mother feed. The neonate was referred to the pediatric surgery department for further management. [ABSTRACT FROM AUTHOR]

Background: Posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) is a rare congenital anomaly with a broad spectrum of clinical manifestations. Case Description: We describe a 75-year-old male with PHACE anomaly, aortic anomaly, malformation of brain, aplastic right carotid artery, and cervical vasculopathy. He presented with a transient ischemic attack with the left hemiparesis, a rare clinical presentation of the PHACE syndrome. He had an uneventful recovery and recently completed a 2-year follow-up after the superficial temporal artery to middle cerebral artery anastomosis. Conclusion: PHACE syndrome should be kept in mind, even in individuals of advanced age, in the instance of a TIA, especially in situations which may involve induced hypoperfusion. [ABSTRACT FROM AUTHOR]

Congenital nasal pyriform aperture stenosis (CNPAS) is a recognized but rare and unusual cause of nasal airway obstruction in neonates. We describe an infant who has CNPAS with megaincisor, holoprosencephaly, agenesis of the corpus callosum with Dandy–Walker malformation, and central diabetes insipidus to highlight the importance of recognizing the variable abnormalities associated with this condition. [ABSTRACT FROM AUTHOR]

Introduction: Dandy-Walker syndrome (DWS) is a congenital neurological disorder that is characterized by a triad that includes complete or partial agenesis of the cerebellar vermis, torcular herophili, and so on. Choanal atresia is the obstruction or narrowing of the posterior nasal cavity. This disease may be congenital or acquired. Methods: Considering the referral of the patient to Al-Hadi hospital in Shoushtar, the required data were collected through examination, tests, and documents in the medical records. Results: The patient was a boy born at the 39th week of gestation via cesarean section because the ultrasound findings showed dilatation and enlargement of the fourth ventricle along with hydrocephalus. The patient was admitted with a diagnosis of DWS with bilateral choanal atresia, the absence of testis descent and the possibility of cardiac anomalies of hydrocephalus and macrocephaly with respiratory distress. The patient received Ampicillin, Dopamine, Fentanyl, and Midazolam based on the physician's order. After three days, the patient had a cardiac arrest, resuscitation was not successful, and the patient died eventually. Conclusion: This syndrome can be diagnosed with advanced imaging techniques, so it is better to perfume routine pregnancy care, especially imaging measures, with more sensitivity to prevent the birth of babies with this abnormality. [ABSTRACT FROM AUTHOR]

Dandy-Walker syndrome (DWS) is a rare congenital cystic malformation of the posterior cranial fossa. Patients show signs and symptoms of complex clinical manifestations, ranging from cranial nerve and cerebellar dysfunctions to extracranial abnormalities, which may pose challenges in dental management. This article represents a rare case of a 12-year-old girl with DWS along with the involvement of the oral cavity. [ABSTRACT FROM AUTHOR]

Introduction: One of the most important unanswered questions in pediatric hydrocephalus is determining whether treatment with endoscopic third ventriculostomy (ETV) versus shunt results in improved health status and quality of life (QOL). To answer this, the International Infant Hydrocephalus Study (IIHS) was started in 2005 as a prospective, multicenter study to compare ETV and shunt in infants (< 24 months old) with symptomatic triventricular hydrocephalus from aqueductal stenosis. Herein, we present the 5-year primary outcome results.Methods: IIHS utilized a prospective comprehensive cohort design, in which patients received ETV or shunt, based on either randomization or parental preference. For this analysis, we pooled the randomized arm and the parental preference arm, analyzing them together. At 5 years of age, children were assessed with the Health Utilities Index Mark 2 (HUI-2) (primary outcome) and the Hydrocephalus Outcome Questionnaire (HOQ), a measure of QOL. Results were compared in an analysis of covariance, adjusting for baseline variables including age at surgery and baseline development status.Results: From a total of 158 patients who met eligibility criteria, complete 5-year outcomes were available on 78 (19 treated initially with shunt, 61 treated initially with ETV), assessed at a mean age of 62.1 months (SD 6.3). The mean 5-year HUI-2 utility score was 0.90 (SD 0.19) for ETV and 0.94 (SD 0.10) for shunt (p = 0.21). The mean 5-year HOQ overall score was 0.81 (SD 0.15) for ETV and 0.85 (SD 0.12) for shunt (p = 0.42). Similarly, there were no significant differences noted between 5-year HOQ subscores (cognitive, social-emotional, physical) or developmental measures at 1, 2, and 3 years.Conclusions: This is the first prospective direct comparison of long-term outcomes of ETV and shunt for infant hydrocephalus. These results suggest that overall health status and quality of life in this cohort of infants treated for aqueductal stenosis are high, with no significant difference between those treated initially with ETV or shunt.Trial registration: NCT00652470 [ABSTRACT FROM AUTHOR]

We explore the outcome of a fetus with a posterior fossa abnormality thought to be a Dandy-Walker malformation based on prenatal ultrasound imaging. The infant was later diagnosed by magnetic resonance imaging (MRI) as having an isolated cisterna magna. When assessing brain abnormalities, there is increased accuracy of prenatal MRI versus prenatal ultrasound. Accurate diagnosis of an infant is paramount so that an inheritance pattern, risk of recurrence, involvement of other systems, and a prognosis can be determined. Communicating with the family and supporting them with the correct information is then enhanced. It should be standard protocol to obtain a fetal MRI if an abnormal prenatal ultrasound of the brain is detected. Further research is needed to assess the accuracy of using MRI versus ultrasonography prenatally to diagnose posterior brain abnormalities. [ABSTRACT FROM AUTHOR]

Purpose: Dandy-Walker malformation is a rare condition due to imperforation of the Blake’s pouch during intrauterine brain development, usually leading to early severe hydrocephalus. The association with holocord syringomyelia is rare, and from the Gardner’s first report in 1957, only 23 cases have been described, mostly from autopsy series and pre-MRI period. Besides a worsening of clinical picture, its occurrence generates some concern about the best surgical treatment that varies widely among the literature reports.Methods: An 11-year-old girl with Dandy-Walker malformation presented with a holocord syrinx due to the herniation of the lower pole of the posterior fossa cyst through the foramen magnum.Results: After an unsuccessful shunt revision, she underwent a cystoperitoneal shunt with regression of the syrinx and of neurological symptoms at the 12-month follow-up.Conclusions: Previous literature about pathogenesis, treatment, and follow-up is discussed and summarized. [ABSTRACT FROM AUTHOR]

Background: This paper aims to contribute to the discussion about patient‐centred care in surgery. It is contended here that the paradigm shift towards patient‐centred decision‐making in health care does not mean that patient values alone (or those of their proxies) should, uncritically, be the lead decision makers in determining surgical care. Methods: In support of that contention, three clarifications to our conception of autonomy will be offered. Results: First, autonomy may not be best positioned as the lead principle guiding healthcare decision‐making. Second, arguably, our traditional understanding of autonomy, as it might be applied to health care, is incomplete. Third, where autonomy is vested is contentious, and proxy decision makers can further complicate the decision‐making process. Conclusion: It will be argued that an approach of inclusive, non‐coercive and reflective dialogue seeking a consensual decision amongst all those affected is more appropriate for moral decision‐making in surgery. This dialogue is set in the actual reality of the patient's illness. During the discourse, each participant has equal rights to contribute and to be heard, equal duties not to coerce and equal co‐responsibilities to share the perspectives of others in the discourse, with an aim to reach consensus. [ABSTRACT FROM AUTHOR]

Dandy-Walker malformation (DWM) is a group of congenital human brain malformation with specific characteristics. It may be associated with a number of other organ malformation including heart, eye, and thyroid glands. In our case, DWM was associated with heart malformation in the form of patent ductus arteriosus (PDA) and was complicated by atrial fibrillation. The case was established by computed tomography of brain, echocardiography and electrocardiography. The patient was asymptomatic until 7 years of age. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes.Method: Study design: case–control study.Setting: A cochlear implantation tertiary referral center.Patients: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy–Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use.Intervention: Cochlear implantation.Main outcome measures: Subjects’ auditory abilities, speech intelligibility, and pure tone thresholds were compared between the syndromic and non-syndromic group.Results: A total of 25 subjects (13 syndromic and 12 non-syndromic) participated in the study. Neither auditory ability nor speech intelligibility scores differed significantly by group. The final PTA of both the groups showed normal-to-mild hearing loss: 26 dB HL in the syndromic group and 23 dB HL for the control group.Conclusions: Cochlear implant recipients with genetic syndromes achieved similar levels auditory perception and speech intelligibility as their peers with a genetic syndrome. The presence of any of the genetic syndromes described herein should not be a contraindication to cochlear implant provision, as it would have a positive impact on the patients’ sensory perception and lifestyle. [ABSTRACT FROM AUTHOR]

Background: In 2015, new disability weights (DWs) for infectious diseases were constructed based on data from four European countries. In this paper, we evaluated if country, age, sex, disease experience status, income and educational levels have an impact on these DWs. Methods: We analyzed paired comparison responses of the European DW study by participants' characteristics with separate probit regression models. To evaluate the effect of participants' characteristics, we performed correlation analyses between countries and within country by respondent characteristics and constructed seven probit regression models, including a null model and six models containing participants' characteristics. We compared these seven models using Akaike Information Criterion (AIC). Results: According to AIC, the probit model including country as covariate was the best model. We found a lower correlation of the probit coefficients between countries and income levels (range rs: 0.97-0.99, P < 0.01) than between age groups (range rs: 0.98-0.99, P < 0.01), educational level (range rs: 0.98-0.99, P < 0.01), sex (rs = 0.99, P < 0.01) and disease status (rs = 0.99, P < 0.01). Within country the lowest correlations of the probit coefficients were between low and high income level (range rs = 0.89-0.94, P < 0.01). Conclusions: We observed variations in health valuation across countries and within country between income levels. These observations should be further explored in a systematic way, also in non-European countries. We recommend future researches studying the effect of other characteristics of respondents on health assessment. [ABSTRACT FROM AUTHOR]

It has been very aptly quoted, “Variety is the spice of life”; and so variations exist in all forms and kinds good or bad, and for the worst or the best! Mother nature in all her glory and beauty has been very generous, but what when she fails to provide? It is this very character of nature that gives us variations which sometimes manifest in a cruel way on the human body and gives us the eponym of syndromes. Dandy–Walker malformation is an abnormality of the central nervous system, which leads to hydrocephalus and is associated with other abnormalities. Neurologic symptoms are the norm in afflicted patients due to the inherent nature of the disease in that it affects the very center of human function-the brain. This article brings to you a very unique, challenging and rare case of a young patient with this debilitating disorder who was also affected with giant cell lesions of the maxilla and mandible along with cherubism. It highlights the unpredictable course and progression of the disease in a child and our unique protocol employed for the management of the same. It adds providence and a new perspective to the still ambiguous nature of this disorder and the unprecedented maxillofacial anomalies, i.e., giant cell lesions and Cherubism associated with the same. [ABSTRACT FROM AUTHOR]

Background: Idiopathic normal pressure hydrocephalus (INPH) has no reliable biomarker to assist in the selection of patients who could benefit from ventriculo-peritoneal (VP) shunt insertion. The neurodegenerative markers T-tau and Aβ1-42 have been found to successfully differentiate between Alzheimer's disease (AD) and INPH and therefore are candidate biomarkers for prognosis and shunt response in INPH. The aim of this study was to test the predictive value of cerebrospinal fluid (CSF) T-tau and Aβ1-42 for shunt responsiveness. In particular, we pay attention to the subset of INPH patients with raised T-tau, who are often expected to be poor surgical candidates. Methods: Single-centre retrospective analysis of probable INPH patients with CSF samples collected from 2006 to 2016. Index test: CSF levels of T-tau and Aβ1-42. Reference standard: postoperative outcome. ROC analysis assessed the predictive value. Results: A total of 144 CSF samples from INPH patients were analysed. Lumbar T-tau was a good predictor of post-operative mobility (AUROC 0.80). The majority of patients with a co-existing neurodegenerative disease responded well, including those with high T-tau levels. Conclusion: INPH patients tended to exhibit low levels of CSF T-tau, and this can be a good predictor outcome. However levels are highly variable between individuals. Raised T-tau and being shunt-responsive are not mutually exclusive, and such patients ought not necessarily be excluded from having a VP shunt. A combined panel of markers may be a more specific method for aiding selection of patients for VP shunt insertion. This is the most comprehensive presentation of CSF samples from INPH patients to date, thus providing further reference values to the current literature. [ABSTRACT FROM AUTHOR]

Background: Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome. Case presentation: 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. Conclusion: Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome. [ABSTRACT FROM AUTHOR]

Purpose: The purpose of this review is to comprehensively review the foramina of Luschka in regard to their discovery, embryology, anatomy, and surgical relevance. Methods: This subject review of the foramina of Luschka was composed after conducting a thorough review of the available literature on this topic using PubMed and other primary sources. Results: The foramina of Luschka are paired apertures located in the lateral recesses of the fourth ventricle, within the posterior cranial fossa. The foramina of Luschka are of importance clinically as their blockage can disrupt the flow of cerebrospinal fluid leading to the development of hydrocephalus. These apertures were first described by the German anatomist Hubert von Luschka in the nineteenth century. These foramina are thought to emerge at around the 26th week of development. The apertures project into the cerebellopontine angle at the lateral border of the pontomedullary sulcus. Conclusion: The foramina of Luschka may be surgically manipulated for the excision of tumors involving the fourth ventricle and surrounding structures and accessed for cochlear nucleus stimulation. [ABSTRACT FROM AUTHOR]

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 <1 year old (40.6%) or >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. [ABSTRACT FROM AUTHOR]

Dandy-Walker malformation is defined by enlarged posterior fossa, cystic dilatation of the fourth ventricle, and cerebellar hypoplasia. Although developmental delay and mental retardation are common in Dandy-Walker malformation cases, other comorbid psychiatric conditions have been rarely reported. There are limited numbers of case reports about comorbidity of bipolar disorder with Dandy-Walker malformation in the literature. Herein, a Dandy-Walker malformation case presenting affective symptoms is reported, and psychiatric symptoms which might be seen in this rare malformation are discussed along with diagnosis, treatment, and follow-up processes. A 27-year-old male patient, hospitalized for compulsory treatment, had been diagnosed with Dandy-Walker malformation in childhood. First complaints were attention deficiency, behavioral problems, learning difficulties; and manic and depressive episodes have occurred during follow-ups. He recently complained of decreased need for sleep, irritability, and increased speed of thought, and psychiatric examination was consistent with manic episode. Cranial computed tomography (CT) revealed bilateral ventriculomegaly, enlarged third and fourth ventricles with posterior fossa cyst, and cerebellar hypoplasia. His treatment included 30 mg/day aripiprazole, 1000 mg/day valproic acid, 200 mg/day quetiapine, 4 mg/day biperiden, and 100 mg/month paliperidone palmitate. Beside its traditional role in the regulation of coordination and motor functions, cerebellum is increasingly emphasized for its involvement in the mood regulation. Thus, as seen in Dandy-Walker malformation, cerebellar anomalies are suggested to play a role in the pathophysiology of mood disorders. Further studies are needed to better understand the relationship between mood disorders and cerebellum. Moreover, treatment options should be considered carefully in terms of resistance to treatment and potential side effects, for psychiatric disorders occurring in these cases; and detailed examinations, including cranial imaging, would be beneficial in bipolar cases with early onset, unresponsiveness to treatment, presenting atypical symptoms, mental retardation, and developmental delay as well as neurological symptoms and signs. [ABSTRACT FROM AUTHOR]

The acronym "PHACE" refers to the syndromic association of posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, and eye anomalies. Till now, less than 400 cases of PHACE syndrome have been reported in the medical literature. Its etiopathogenesis is still unknown, and a great deal of genetic and molecular research is required. Moreover, there is always a high probability of misdiagnosis due to the certain factors such as mildly symptomatic patients, hasty diagnosis of relatively common simulating syndromic entities, and low awareness among medical fraternity about the standard diagnostic criteria for PHACE syndrome. Therefore, we report here a case of PHACE syndrome in a 2-year-old female child presenting with Dandy-Walker malformation, microphthalmia, leukocoria, hearing loss, and regressing lesions of large facial infantile hemangioma. [ABSTRACT FROM AUTHOR]

Introduction: Dandy-Walker malformation (DWM) is a congenital brain anomaly characterized by dysgenesis of the cerebellar vermis and the presence of a posterior fossa cyst. The association of syringomyelia with DWM is extremely rare. Case report: A 10-year-old patient who was diagnosed with DWM in infancy presented with progressive scoliosis and fecal incontinence. He had been treated with cystoventriculoperitoneal shunting with a Y-connection during infancy, which was followed by a revision 6 years later. During the revision surgery, intraventricular bleeding occurred and was managed conservatively. Imaging studies for the current visit revealed syringomyelia along the cervicothoracic spinal cord and a membranous structure around the cervicomedullary junction. Phase-contrast cine magnetic resonance imaging (MRI) revealed disturbed cerebrospinal fluid (CSF) flow across the membrane. We excised the arachnoid web that was tethering the brainstem and blocking CSF flow. Postoperatively, the patient experienced symptom relief, and the follow-up imaging study demonstrated a dramatic decrease in the size of the syringomyelia. Discussion: We suggest that syrinx formation in this patient was possibly caused by disturbed CSF flow and tethering of the brainstem. Conclusion: We experienced an unusual case of DWM with syringomyelia which was caused by an arachnoid web blocking CSF flow and tethering the brainstem. The arachnoid web seems to be formed by previous bleeding which occurred at the time of shunt revision. After excision of the arachnoid web, the patient showed good outcome. [ABSTRACT FROM AUTHOR]

Dandy–Walker Syndrome (DWS) is a rare congenital brain anomaly affecting the cerebellum and the fourth ventricle. The chief components of the syndrome include cystic dilatation of the fourth ventricle and agenesis or hypoplasia of the cerebellar vermis. These abnormalities are typically associated with hydrocephalus. Patients often present in infancy for cerebrospinal fluid shunt procedures. Anaesthetic concerns include those related to other frequently associated congenital abnormalities. Airway management requires particular attention. The limited literature on this subject suggests that these patients require postoperative intensive care admission. This is not always possible in the resource-limited environment. This case report describes the successful anaesthetic management of an infant with Dandy–Walker Syndrome without postoperative intensive care admission. [ABSTRACT FROM PUBLISHER]

Introduction: Dandy-Walker Malformation is an inborn condition that includes the triumvirate of cystic enlargement of the fourth ventricle, posterior fossa distension with rise of the tentorium and agenesis of cerebellar vermis. The purpose of this study is to determine the Clinical presentation and associated complications, mortality and morbidity of patient undergoing placement of shunt with Y-connector in Dandy Walker Malformation. Study Design: Case Series comprised of 85 cases. Setting: Neurosurgery Ward of Tertiary Care Hospital in Karachi. Period: February 2011 to December 2015. Methodology: All patients who were presented in OPD with complaints reminiscent of DWM with accompanied Hydrocephalus and then underwent CT scan Brain without contrast to confirm the diagnosis were admitted. The patients who have previous history of operation and other co-morbid anomalies were omitted. These patients undergo drainage of Ventricular system and Posterior Fossa cyst was done mutually via Dual Shunt including Ventricular-peritoneal and Cysto-peritoneal shunt with Y connector. There were few complications and mortality after this surgical intervention which was noted for a month. All records were recorded and evaluated by SPSS v.20. Result: A vast majority of patients included were Female. The average age of patients was 2.5 years +/- 1 Standard Deviation. The chief complaint was Hydrocephalus, existing in all patients, after that cerebellar signs in 55 (64.7%) and other signs in 10 (11.8%) patients. Others signs includes; milestones were delayed, atypical gait and few patients were suffered from psychiatric problems. Complications which were observed were shunt; Fracture/Dislocation in 10 (11.8%), shunt blockage in 8 (9.4%), malpositioning is also 8 (9.4%), Intracranial Hemorrhage in 7 (8.24%) patients and Infection in 10 (11.8%). These complications were observed within a month of surgery. Unfortunately, two (2.35%) patient were also expired after surgical approach. Conclusion: It is concluded that Dandy Walker Malformation is categorized by a triumvirate. Hydrocephalus is a most common symptom and principal cause of referral to hospitals. The commonest difficulty acknowledged after shunting is Malfunction and shunt infections. The lowest mortality is related to Dual Shunt with Y connector when compared to other approaches for management of shunt with Y-connector. Thus, it is found to be a worthy decision in given DWM patients. [ABSTRACT FROM AUTHOR]

Ligneous conjunctivitis (LC) is a rare form of pseudomembranous conjunctivitis seen in children, perhaps due to plasminogen deficiency, which manifest as a chronic refractory pseudomembranous conjunctivitis. LC cases are incapable in maintaining their fibrinolytic activity due to plasminogen deficiency; consequently, transudates of plasma assume as a thick, gelatinous, woody membranes over the mucosal surfaces. This is a short case report on a child with a LC, who presented with recurrent pseudomembranous conjunctivitis in conjunction with progressive congenital hydrocephalus due to aqueductal stenosis (Dandy-Walker syndrome). This rare association was clinically confirmed and prompt corrective surgical measures were instituted. [ABSTRACT FROM AUTHOR]

Purpose: Endoscopic third ventriculostomy/choroid plexus cauterization (ETV/CPC) has gained popularity in its treatment of infantile hydrocephalus over the past decade. In this manuscript, we perform a systematic review and meta-analysis to determine the efficacy and safety of ETV/CPC, and to compare the procedural outcomes between North American and sub-Saharan African cohorts. Methods: Systematic review was performed using four electronic databases and bibliographies of relevant articles, with no language or date restrictions. Cohort studies of participants undergoing ETV/CPC that reported outcome were included using MOOSE guidelines. The outcome was time to repeat CSF diversion or death. Forest plots were created for pooled mean and its 95 % CI of outcome and morbidity. Results: Of 78 citations, 11 retrospective reviews (with 524 total participants) were eligible. Efficacy was achieved in 63 % participants at follow-up periods between 6 months and 8 years. Adverse events and mortality was reported in 3.7 and 0.4 % of participants, respectively. Publication bias was detected with respect to efficacy and morbidity of the procedure. A large discrepancy in success was identified between ETV/CPC in six studies from sub-Saharan Africa (71 %), compared to three studies from North America (49 %). Conclusions: The reported success of ETV/CPC for infantile hydrocephalus is higher in sub-Saharan Africa than developed nations. Large long-term prospective multi-center observational studies addressing patient-important outcomes are required to further evaluate the efficacy and safety of this re-emerging procedure. [ABSTRACT FROM AUTHOR]

Background: The middle meningeal artery (MMA) is often sacrificed during neurosurgical procedures in the region of the pterion. This maneuver, herein, is hypothesized to be a potential reason for the development of postoperative hydrocephalus by injuring the vascular supply to the arachnoid granulations near the vertex of the skull, and thus disrupting their ability to allow for transfer of CSF from the subarachnoid space to the venous system. Materials and methods: To test this theory, the middle meningeal artery was isolated at the skull base and injected with India ink. Next, the superior sagittal sinus was opened and the arachnoid granulations inspected. Results: All specimens demonstrated ink within the arachnoid granulations indicating that their blood supply is completely or at least partially via the middle meningeal artery. This finding with an illustrative case of surgical cautery of the middle meningeal artery at the skull base with subsequent development of hydrocephalus supports our hypothesis of potential role of iatrogenic MMA injury causing hydrocephalus. Conclusions: Our cadaveric study shows that the blood supply of the arachnoid granulations of the superior sagittal sinus is via the middle meningeal artery. Additional cases of postoperative hydrocephalus following middle meningeal artery sacrifice are needed to support our hypothesis. [ABSTRACT FROM AUTHOR]

Objectives: The relationships between shunt infection and predictive factors have not been previously investigated using Artificial Neural Network (ANN) model. The aim of this study was to develop an ANN model to predict shunt infection in a group of children with shunted hydrocephalus. Materials and methods: Among more than 800 ventriculoperitoneal shunt procedures which had been performed between April 2000 and April 2011, 68 patients with shunt infection and 80 controls that fulfilled a set of meticulous inclusion/exclusion criteria were consecutively enrolled. Univariate analysis was performed for a long list of risk factors, and those with p value < 0.2 were used to create ANN and logistic regression (LR) models. Results: Five variables including birth weight, age at the first shunting, shunt revision, prematurity, and myelomeningocele were significantly associated with shunt infection via univariate analysis, and two other variables (intraventricular hemorrhage and coincided infections) had a p value of less than 0.2. Using these seven input variables, ANN and LR models predicted shunt infection with an accuracy of 83.1 % (AUC; 91.98 %, 95 % CI) and 55.7 % (AUC; 76.5, 95 % CI), respectively. The contribution of the factors in the predictive performance of ANN in descending order was history of shunt revision, low birth weight (under 2000 g), history of prematurity, the age at the first shunt procedure, history of intraventricular hemorrhage, history of myelomeningocele, and coinfection. Conclusion: The findings show that artificial neural networks can predict shunt infection with a high level of accuracy in children with shunted hydrocephalus. Also, the contribution of different risk factors in the prediction of shunt infection can be determined using the trained network. [ABSTRACT FROM AUTHOR]

New-onset psychotic symptoms often respond well to antipsychotic treatment; however, symptoms may be difficult to treat when an underlying brain malformation is present. Here, we present a case of atypical psychotic symptoms in the context of a congenital cerebellar malformation (Dandy–Walker variant). The patient ultimately improved with paliperidone palmitate after multiple antipsychotic medication trials (both oral and one long-acting injectable) were ineffective. Neuroimaging may provide valuable diagnostic and prognostic information in cases of new-onset psychosis with atypical features and treatment resistance, even in the absence of neurologic signs and symptoms. [ABSTRACT FROM PUBLISHER]