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BACKGROUND AND PURPOSE: Although cardinal imaging features for the diagnostic criteria of the Dandy-Walker phenotype have been recently defined, there is a large range of unreported malformations among these patients. The brainstem, in particular, deserves careful attention because malformations in this region have potentially important implications for clinical outcomes. In this article, we offer detailed information on the association of brainstem dysgenesis in a large, multicentric cohort of patients with the Dandy-Walker phenotype, defining different subtypes of involvement and their potential clinical impact. MATERIALS AND METHODS: In this established multicenter cohort of 329 patients with the Dandy-Walker phenotype, we include and retrospectively review the MR imaging studies and clinical records of 73 subjects with additional brainstem malformations. Detailed evaluation of the different patterns of brainstem involvement and their potential clinical implications, along with comparisons between posterior fossa measurements for the diagnosis of the Dandy-Walker phenotype, was performed among the different subgroups of patients with brainstem involvement. RESULTS: There were 2 major forms of brainstem involvement in patients with Dandy-Walker phenotype including the following: 1) the mild form with anteroposterior disproportions of the brainstem structures only (57/73; 78%), most frequently with pontine hypoplasia (44/57; 77%), and 2) the severe form with patients with tegmental dysplasia with folding, bumps, and/or clefts (16/73; 22%). Patients with severe forms of brainstem malformation had significantly increased rates of massive ventriculomegaly, additional malformations involving the corpus callosum and gray matter, and interhemispheric cysts. Clinically, patients with the severe form had significantly increased rates of bulbar dysfunction, seizures, and mortality. CONCLUSIONS: Additional brainstem malformations in patients with the Dandy-Walker phenotype can be divided into 2 major subgroups: mild and severe. The severe form, though less prevalent, has characteristic imaging features, including tegmental folding, bumps, and clefts, and is directly associated with a more severe clinical presentation and increased mortality.

BACKGROUND AND PURPOSE: The traditionally described Dandy-Walker malformation comprises a range of cerebellar and posterior fossa abnormalities with variable clinical severity. We aimed to establish updated imaging criteria for Dandy-Walker malformation on the basis of cerebellar development. MATERIALS AND METHODS: In this multicenter study, retrospective MR imaging examinations from fetuses and children previously diagnosed with Dandy-Walker malformation or vermian hypoplasia were re-evaluated, using the choroid plexus/tela choroidea location and the fastigial recess shape to differentiate Dandy-Walker malformation from vermian hypoplasia. Multiple additional measures of the posterior fossa and cerebellum were also obtained and compared between Dandy-Walker malformation and other diagnoses. RESULTS: Four hundred forty-six examinations were analyzed (174 fetal and 272 postnatal). The most common diagnoses were Dandy-Walker malformation (78%), vermian hypoplasia (14%), vermian hypoplasia with Blake pouch cyst (9%), and Blake pouch cyst (4%). Most measures were significant differentiators of Dandy-Walker malformation from non-Dandy-Walker malformation both pre- and postnatally (P  .3). The superior posterior fossa angle, torcular location, and vermian height differentiated groups postnatally (P  .07). CONCLUSIONS: As confirmed by objective measures, the modern Dandy-Walker malformation phenotype is best defined by inferior predominant vermian hypoplasia, an enlarged tegmentovermian angle, inferolateral displacement of the tela choroidea/choroid plexus, an obtuse fastigial recess, and an unpaired caudal lobule. Posterior fossa size and torcular location should be eliminated from the diagnostic criteria. This refined phenotype may help guide future study of the numerous etiologies and varied clinical outcomes.

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Objective To summarize the clinical and imaging characteristics with Dandy-Walker syndrome (DWS) in children before and after peritoneal shunt. Methods and Results All 6 children with DWS admitted to Fujian Sanbo Funeng Brain Hospital from January 2016 to January 2023 were selected as the objects of observation, including one case of Dandy-Walker malformation (DWM) and 5 cases of Dandy- Walker variant (DWV). Before surgery, the main manifestations were cerebellar vermis defect, upward movement of the tentorial and sinusional area, severe dilatation of the fourth ventricle, posterior cranial fossa cystic lesions, supratentorial ventricle dilatation and hydrocephalus (one case); or cerebellar vermis dysplasia, cerebellar hemisphere compression, the fourth ventricle dilatation, posterior cranial fossa cystic lesions, supratentorial ventricle dilatation and hydrocephalus (5 cases). Right lateral ventriculoperitoneal shunt (2 cases) or posterior cranial fossa cyst-peritoneal shunt (4 cases) were performed, and the operations were successful without surgery - related complications. After 2.31-7.00 years of follow - up, 6 cases of hydrocephalus and posterior cranial fossa cystic malformation were gradually relieved, 3 cases of good prognosis, cerebral hemisphere and cerebellum development, speech, movement and intelligence normal; there were 3 children with general prognosis, including cerebellar disequilibrium symptoms (one case), autism, claustrophobia (one case), and speech, motor and intellectual disorders (one case) complicated with neurocutaneous melanosis. Conclusions The brain structure of the children with DWS presented with hydrocephalus can be well developed after the hydrocephalus is corrected by single shunt. Among them, the cerebellar vermis of the DWV is well developed, while the development of the DWM presented with cerebellar vermis defect needs to be observed in more cases.

Abstract 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.

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]

There exist few publications describing the cases of children diagnosed with two rare diseases. Most of them are medical case studies. The purpose of the research was to describe the complex communication needs of a child and the resulting needs in the area of me as a person and in the home, social, educational, therapeutic and medical environment. The research involved a boy in early school age diagnosed with the Dandy-Walker syndrome and mucopolysaccharidosis type II (Hunter syndrome). The research was embedded in qualitative orientation using an individual case study. The research was conducted over a period of four years (2016 to 2020). The complex communication needs diagnosed in the boy triggered the following needs in the area of “me as a person”: to notice the effects of one’s actions, to have a sense of being a member of a group, to engage in activities that will help develop one’s own competencies and gain experience, and to be included in group activities. The research suggests that all of the above mentioned needs exist in the home and social environment area. In terms of education, it was determined that there is no need for a teaching assistant/aide who would know alternative methods of communication and could adapt the classroom to multimodal communication and train other persons. In terms of therapy, there was no need to create a controlled space in an institution, as therapy, the same as education, takes place in the boy’s home. In terms of medical care, Adam has all the above mentioned needs.

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]

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.

Introduction: Self-treatment with Lamotrigine rarely ends with toxicity, regardless of the suicidal intentions of the patient. The authors hereby present an illustrative case of the patient who has been treated with epilepsy therapy with Dandy-Walker syndrome and congenital epidermolysis bullosa (potentially skin-unwanted). Lamotrigine is a phenyltriazine-class, broad-spectrum antiepileptic and therapy of bipolar depression. Dandy-Walker syndrome is a pathological entity and represents the set of developmental, cerebral, but also other abnormalities of the organism. Epidermolysis bullosa is a hereditary, non-inflammatory skin disease with a mucous membrane of characteristic "bubbles". Case report: Our patient, a 37-year-old male was first admitted to the hospital department of Urgent Medicine of Clinical Center Kragujevac because he consumed two boxes of Lamotrigine tablets. In the receiving clinic, the patient showed respiratory failure and was urgently intubated. From medical documentation and hetero-anamnesis (obtained by his father), the authors found out that he was treated for epilepsy, Dandy-Walker syndrome, and congenital epidermolysis bullosa, which deteriorated with the use of Lamotrigine through potentially undesirable skin effects. During clinical observation, a lavage of gastric contents was conducted. The medical coal was used via nasogastric intubation as a detoxification method because of the patient’s comatose state. Causative metabolic pathway of lamotrigine, the hemodialysis was performed. Conclusion: The case report of our patient points to the necessity of a multidisciplinary approach of the expert team, consisting of the clinical pharmacologist and toxicologist, neurologist, dermatologist, nephrologists, and other specialists, if necessary. Patients with Dandy-Walker syndrome require adequate socio-medical care.

Background: Dandy-Walker Syndrome (DSW) is a complex malformation that involves the posterior fossa and the cerebellum, being considered a rare condition with an estimated incidence of 1 in 30,000 births. Hydrocephalus is its most common finding, identified in approximately 80% of cases, and SDW is present in between 4% and 12% of cases of hydrocephalus in infants. The "classical triad" of SDW is defined by complete or partial agenesis of the vermis, enlargement of the posterior fossa with upward displacement of the tentorium, transverse and torcular sinuses, and cystic dilatation of the fourth ventricle. Objective: To report a case of SDW attended in our Service. Method: This is a single case report treated at the Gynecology and Obstetrics Service of the São Francisco University Hospital in Providência de Deus - HUSF, located in the city of Bragança Paulista, SP, Brazil. The patient authorized the use of information about the case by signing an informed consent form. Conclusion: This report demonstrated the importance of imaging techniques, such as magnetic resonance imaging, ultrasound, for the identification, even during the prenatal period, of fetuses with the syndrome, allowing the medical team to design the treatment suitable for the future newborn. The findings provided by the imaging analyzes allowed us to investigate in great detail all the changes indicative of SDW after the 18th week of gestation, as well as after delivery. [ABSTRACT FROM AUTHOR]

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]

Chronic disease is a source of repetitive experiences that may permanently affect the structure and personality traits of a young patient. The whole family environment is undergoing a series of changes, which requires the support of many specialists. Dandy-Walker syndrome is such a disease as it causes many problems and often coexists with a wide range of other congenital and genetic defects. Aim. The aim of the study was to analyze and evaluate the relationship between health problems, parents' attitudes towards the problem of a sick child and parenting styles in the families of children with Dandy-Walker syndrome. Methods. 30 families from all over Poland were examined. Standardized questionnaires were applied for the research. To detect statistically significant relationships were used: chi-squared test (Chi2 test) with Yates correction, Shapiro-Wilk normality test, non-parametric Mann-Whitney U test, as well as Spearman's rank order correlation and Pearson correlation coefficient (Pearson's r). Results. In the case of analyzing the parents' approach to the problem of child's illness, the best results were obtained by the respondents in the intellectual approach, that is, this way of dealing with the child's illness dominates in their actions. Statistically significant relationships were found between the age of the fathers and the autocratic style (P = 0.01) and a wide range of statistically significant relationships between the Family Systems presented in the studied group and the emotional stages of parents. Conclusions. The results of the research on the approach to a difficult situation are as follows: emotional stages have shown that most parents are emotionally unable to cope with the child's disease, therefore parents of children born with congenital defects should be under the care of a psychological counseling center.

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]

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.

Introduction: Dandy-Walker malformation (DWM) is a rare congenital disorder that involves the cerebellum and fourth ventricle. Incidentally detected asymptomatic DWM is sparsely reported in literature at extremes of age (from 1 to 75 years) in association with different diseases. We aim to report the case of a patient with an incidental finding of a DWM after a road traffic accident, reinforcing the importance of suspicion, investigation, diagnosis of clinical presentations. The Case: This case report describes a 27-year-old female patient who presented to the emergency room after a motor vehicle collision. She suffered a left kidney and spleen injury. The patient’s brain CT scan revealed an enlarged cisterna magna with normal cerebellum, partial hypoplasia of the cerebellar vermis and enlargement of the fourth ventricle compatible with DWM. Neurological examination was unremarkable. An exploratory laparotomy was performed, and the left kidney and spleen showed hemorrhage, so a left nephrectomy and splenectomy was done. Conclusions: This case report aimed to characterize the DWM, which is a congenital malformation of the central nervous system. Asymptomatic patients do not require surgical treatment; however, these patients should be followed up once a year.

Abstract 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.

Context: Dandy-Walker syndrome (DWS) or malformation (DWM) characterizes a hereditary abnormality categorized via agenesis or hypoplasia of the cerebellar vermis, cystic dilation of the fourth ventricle, and expansion of the posterior fossa with or without hydrocephalus. This review aimed at describing the basic clinic pathologic features of DWS, its diagnosis by other central nervous system (CNS), systemic genetic relatives, and new treatment modalities. Evidence Acquisition: Training and publishing in this field is very limited. Among 54 articles in this era, a total of in 31 articles were included in the current evaluation. Results: The etiology of DWS is uncertain, however, is supposed to be a consequence of the mixture of ecological and genetic causes. The most common postnatal appearance is macro crania. Additional signs and symptoms could include huge posterior fossa, sun- set sign, seizures, spasticity, apnea, respiratory failure, delayed milestones, hydrocephalus, and increased intracranial pressure. Currently, DWS is diagnosed completely with anatomic definitions that can be recognized on ultrasound or Magnetic resonance imaging (MRI) and computed tomography (CT) intrauterine or postnatal. Conclusions: Dandy walker syndrome occurs as a comparatively rare origin of hydrocephalus and might go along with numerous inherited CNS and systemic anomalies. Even though it is usually treated for related hydrocephalus, the abnormality causes no de- tectable clinical syndrome. It is identified with antenatal or postnatal imaging via ultrasound, CT, or MRI. Hydrocephalus and the cyst in posterior fossa can be treated with surgery, via shunting processes, endoscopy, or both. Prognosis has enhanced meaningfully from the time of its original report; yet, it is typically dependent on the accompanying abnormalities.

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]

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Dandy-Walker Syndrome (DWS) is a rare congenital brain malformation characterized by underdevelopment of cerebellar vermis and cystic enlargement of the fourth ventricle and enlargement of the posterior fossa. The cooccurrence of DWS and syringomyelia in adults is very rare. We report a man aged 19 years who presented with a 2-year history of tremor. Magnetic resonance imaging showed cystic dilation of the fourth ventricle, hypoplasia of the cerebellar vermis, and syringomyelia. Posterior fossa decompression and spinal cord ostomy were performed. Tremor was markedly improved and the fourth ventricular and the syringomyelia were reduced in size postoperatively. Tremor can be a clinical manifestation in patients of DWS concomitant with syringomyelia in adults. Spinal cord ostomy combined with posterior fossa decompression may be an effective approach for alleviation of symptoms and syringomyelia. [ABSTRACT FROM AUTHOR]

Introduction: Arachnoid cysts are benign extracerebral collections of cerebrospinal fluid; a very low incidence has been described as part of all intracranial lesions (about 1%). They appear in the different anatomical areas of the neuroaxis where arachnoids exist; the majority are supratentorial and in the middle fossa (50-60%). In general, less than 50% of cases present manifestations that merit surgical treatment. Case report: A 55-year-old female underwent surgery due to torpid evolution as a result of an arachnoid cyst in the posterior fossa. She started suffering from episodes of pulsatile headache 2 years ago without irradiation accompanied by occasional vertigo that was attenuated with conventional analgesia. In the past week, the pain was exacerbated, as was the vertigo, intolerance to the oral route, and generalized weakness. A scheduled surgical intervention was decided on, and a histopathological study reported characteristics compatible with an arachnoid cyst. Discussion: Arachnoid cysts are an uncommon pathology that sometimes requires surgical intervention. In the case presented, the incipient clinic manifestations showed that the patient had an abrupt progression in her intensity, perhaps due to an increase in size, conditioning the increasing headache, and added symptoms. This culminated in her assessment and surgical intervention due to the important compression of the brain stem. It was considered a successful procedure due to the disappearance of the symptoms and the return to her activities. Conclusions: Surgical intervention for posterior fossa arachnoid cyst is an excellent treatment when the symptoms do not improve after having maintained an expectant conduct through conservative management. [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 anomaly is a rare congenital disorder. This syndrome is diagnosed by cerebellar vermis hypoplasia, cystic dilatation of the fourth ventricle and, enlargement of the posterior fossa with or without hydrocephalus. This study presents a report of a male fetus with Dandy-Walker syndrome and determination of clinical protests, risk factors, diagnosis, and treatment of this syndrome. The patient was a 38-year-old woman on second pregnancy (parity one), who was referred for fetal ultrasonography. In fetus neurogram scan and examining the skull, the lower segment of cerebellar vermis hypoplasia and suspicious relationship with 4 ventride and posterior fossa were detected which were indicative of Dandy-Walker variant. The mother was hospitalized for therapeutic abortion at 19 weeks and 2 days gestational age. To terminate the pregnancy 80 mg of misoprostol was administered along with IV infusion of oxytocin. This syndrome is a rare disorder which most of its aspects remains unknown and need more investigations. This syndrome is diagnosed by advanced imaging techniques. So, in order to prevent infant birth with this anomaly, prenatal care, particularly for imaging procedures should be done with greater sensitivity.

Abstract 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. Trial registration CPG137 . Registered 03 March 2017.

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.

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]

Dandy-Walker malformation or syndrome is a rare congenital deformity in which the cerebellar vermis is hypoplastic and upwardly rotated, the fourth ventricle enlarged, and the posterior fossa cystically dilated. It represents the most common type of posterior fossa malformations that are usually diagnosed before the age of one year old. We present a seven-year-old boy with a history of neonatal hypotonia and delayed walking, who presented with speech and language difficulties. His physical examination and cognitive tests were unremarkable. The patient's brain magnetic resonance imaging showed a partial defect of the inferior part of the cerebellar vermis and communication between a normal-sized cisterna magna and the fourth ventricle. There were no other coexisting central nervous system or systemic anomalies. This isolated inferior vermian hypoplasia was compatible with an uncommon variant of the Dandy-Walker syndrome. The aim of this report is to provide insight into the importance of implementing a pediatrician-psychiatrist collaboration in the clinical decision-making process of such developmental delay cases. What makes the present case further interesting are the new-onset unprovoked seizures that developed and recurred in the setting of such isolated and less severe posterior fossa anomaly, raising both diagnostic and therapeutic challenges., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Moudaffar et al.)

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: 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]