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Trigeminal neuralgia is a pain condition that affects the face along the distribution of the trigeminal nerve and can be recurrent and chronic. Dandy-Walker syndrome is a complex congenital brain anomaly that occurs during embryonic development of the cerebellum and the fourth ventricle. It is characterized by inferior cerebellar vermis hypoplasia and incomplete formation of the fourth ventricle. Dandy-Walker Syndrome is associated with comorbid genetic conditions. It can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumors, and other brain defects such as agenesis of the corpus callosum. However, associations of trigeminal neuralgia and Dandy Walker syndrome have been an infrequent entity. Herein, we report a case of a 23-year-old female patient that presented with complaints of severe left orofacial pain over two years. MRI evaluation was consistent with Dandy-Walker malformation findings that we suspect caused the compression in the trigeminal root entry zone that ultimately gave rise to the patient's symptoms.

OBJECTIVE To describe the sonographic appearance and position of the choroid plexus of the fourth ventricle (4V-CP) between 12 and 21 weeks' gestation in normal fetuses and in fetuses with Dandy-Walker malformation (DWM) or Blake's pouch cyst (BPC). METHODS The study population comprised 90 prospectively recruited normal singleton pregnancies and 41 pregnancies identified retrospectively from our institutional database that had a suspected posterior fossa anomaly at 12-13 weeks' gestation based on the ultrasound finding of abnormal hindbrain spaces. In all cases the final diagnosis was confirmed by prenatal and/or postnatal magnetic resonance imaging or postmortem examination. All pregnancies underwent a detailed ultrasound assessment, including a dedicated examination of the posterior fossa, at 12-13 weeks, 15-16 weeks and 20-21 weeks of gestation. Two-dimensional ultrasound images of the midsagittal and coronal views of the brain through the posterior fontanelle and three-dimensional volume datasets were obtained. Multiplanar orthogonal image correlation with volume contrast imaging was used as the reference visualization mode. Two independent operators, blinded to the fetal outcome, were asked to classify the 4V-CP as visible or not visible in both normal and abnormal cases, and to assess if the 4V-CP was positioned inside or outside the cyst in fetuses with DWM and BPC. RESULTS Of the 41 fetuses with apparently isolated cystic posterior fossa anomaly in the first trimester, eight were diagnosed with DWM, 29 were diagnosed with BPC and four were found to be normal in the second trimester. The position of the 4V-CP differed between DWM, BPC and normal cases in the first- and second-trimester ultrasound examinations. In particular, in normal fetuses, no cyst was present and, in the midsagittal and coronal planes of the posterior fossa, the 4V-CP appeared as an echogenic oval-shaped structure located inside the 4V apparently attached to the cerebellar vermis. In fetuses with DWM, the 4V-CP was not visible in the midsagittal view because it was displaced inferolaterally by the cyst. In contrast, in the coronal view of the posterior brain, the 4V-CP was visualized in all cases with DWM at 12-13 weeks, with a moderate decrease in the visualization rate at 15-16 weeks (87.5%) and at 20-21 weeks (75%). In the coronal view, the 4V-CP was classified as being outside the cyst in all DWM cases at 12-13 weeks and in 87.5% and 75% of cases at 15-16 and 20-21 weeks, respectively. In fetuses with BPC, the 4V-CP was visualized in all cases in both the midsagittal and coronal views at 12-13 weeks and in 100% and 96.6% of cases, respectively, at 15-16 weeks. In the coronal view, the 4V-CP was classified as being inside the cyst in 28 (96.6%), 27 (93.1%) and 25 (86.2%) cases at 12-13, 15-16 and 20-21 weeks, respectively. The medial segment of the 4V-CP was visualized near the inferior part of the vermis. CONCLUSIONS Our study shows that longitudinal ultrasound assessment of the 4V-CP and its temporal changes from 12 to 21 weeks is feasible. The 4V-CP is located inside the cyst, just below the vermis, in BPC and outside the cyst, inferolaterally displaced and distant from the vermian margin, in DWM, consistent with the pathogenesis of the two conditions. The position of the 4V-CP is a useful sonographic marker that can help differentiate between DWM and BPC as early as in the first trimester of pregnancy. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Introduction: Dandy Walker Syndrome is a congenital brain malformation that affects the cerebellum and the fluid filled areas that accompany it. The cerebellum is a part of the brain that deals with movement coordination as well as cognition and behavior. Case Presentation: The male patient 8 year old who was apparently admitted in A.V.B.R.H on 18/8/2019 is diagnosed with a known case of dandy walker malformation and came with the complaints of headache since 4 days, fever since 3 days, vomiting since 5 days and 3 episodes of seizures. All the necessary blood investigations has been done. The CT scan as well as MRI reports has shown that large posterior fossa cyst with open communication with fourth ventricle with hypoplastic left cerebellar hemisphere and no visualized cerebellar vermis. Before taking this case, information was given to the patients and their relatives and Informed consent was obtained from patient as well as relatives. Therapeutic Intervention: The patient was treated with NSAIDS, antibiotics, anticonvulsant, antiemetic and antacid and physical therapy to help keep muscle strength and flexibility The patient underwent VP shunt head circumference assessed regularly, vital signs hourly, provided vitamins enriched diet as per dietician’s order assisted dressing for drainage and physical therapy. Conclusion: The patient was admitted in A.V.B.R.H in a critical condition with the diagnosis of dandy walker syndrome, after providing the required treatment by the health care team members of hospital the patient condition was improved and satisfactory.

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.

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.

Summary An 88.5 cm long, 12.9 kg, 3-week-old stranded male Atlantic harbour seal (Phoca vitulina concolor) presented with cerebellar ataxia, delayed postural reactions, hyperaesthesia and nystagmus. The skull was enlarged and domed. Ultrasound through a persistent fontanelle in the frontal bone revealed hydrocephalus. Magnetic resonance imaging showed diffuse enlargement of the ventricular system, an absent cerebellar vermis, hypertrophy of the choroid plexus of the fourth ventricle and enlargement of the caudal fossa. Throughout rehabilitation, the seal failed to achieve milestones critical for successful release or placement in a managed care facility, including the ability to feed independently and haul out. Three months into rehabilitation it began to regurgitate and staff had difficulty administering food to the seal. The seal was euthanized due to a poor prognosis. Post-mortem examination confirmed a) aplasia of the dorsal cerebellar vermis and hypoplasia of the most dorsal portions of the right and left cerebellar hemispheres, b) severe, diffuse, congenital communicating hydrocephalus, and c) aplasia of the interthalamic adhesion and corpus callosum. This case represents the first report of Dandy–Walker-like malformation (DWLM) in a marine mammal and illustrates the importance of advanced imaging and thorough post-mortem examination in free-ranging pinnipeds that strand with evidence of neurological disease.

Objective Normal cognitive development usually requires a structurally intact and complete cerebellar vermis. The aim of this study was to evaluate whether quantification by fetal magnetic resonance imaging (MRI) of vermis‐ and brainstem‐specific imaging markers improves the definition of cystic posterior fossa malformations (cPFM). Methods Fetuses diagnosed with cPFM that had an available midsagittal plane on T2‐weighted MRI were identified retrospectively and compared with gestational‐age (GA) matched brain‐normal controls. Fetuses with cPFM were assigned to three groups, according to standard criteria (vermian size and brainstem–vermis (BV) angle): normal vermian area and BV angle 45° (Group 3; Dandy–Walker malformation (DWM) group). The number of differentiable vermian lobules and the areas of the vermis, mesencephalon, pons and medulla oblongata were quantified, correlated with and controlled for GA, and compared between the study groups. Results In total, 142 cases of cPFM were included, with a mean GA of 25.20 ± 5.11 weeks. Cases comprised Blake's pouch cyst (n = 46), arachnoid cyst (n = 12), inferior vermian hypoplasia (n = 5), megacisterna magna (n = 35) and classic DWM (n = 44). In the control group, 148 fetuses were included, with a mean GA of 25.26 ± 4.12 weeks. All quantified areas and the number of differentiable vermian lobules had a significant positive correlation with GA. The number of vermian lobules and the areas of all quantified regions, except for that of the medulla oblongata, differed significantly between the study groups (P ≤ 0.015 for all). The control group had the highest number of differentiable vermian lobules and the DWM group had the lowest (P

Background 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. Case Description 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. Conclusions 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.

Dandy Walker Syndrome (DWS) and its Variants (DWV) is a congenital disorder that has prevalence of 1 in 25,000 to 30,000 births with the highest incidence occurs at age

Dandy-Walker continuum, which includes Dandy-Walker malformation, vermian hypoplasia, and Blake pouch cyst, is among the most commonly diagnosed posterior fossa malformation by fetal magnetic resonance imaging (MRI). The objective of our retrospective study was to evaluate fetal and postnatal MRI scan and clinical outcomes. Seventy-two patients were identified; 40 patients had postnatal imaging and follow-up (7 Dandy-Walker malformation, 26 vermian hypoplasia, and 7 Blake pouch cyst). Although all patients with Dandy-Walker malformation required ventriculoperitoneal shunts and 66% were intubated at birth, none required tracheostomy tube and 2 of 5 surviving children had no neurologic deficits. Vermian hypoplasia was strongly associated with genetic conditions and cardiac malformations; odds of not ambulating normally were 12 times greater if a syndrome or injury was present. Echocardiogram and genetic screening are recommended with vermian hypoplasia. There is a risk for epilepsy in both Dandy-Walker malformation and vermian hypoplasia. Blake pouch cyst can be complicated by hydrocephalus, but outcome is favorable.

Hydrocephalus is a clinical condition that consists of an accumulation of cerebrospinal fluid around the brain; Dandy- Walker syndrome is a rare cause of it. We present the case of a newborn with prenatal diagnose of hydrocephalus due to a Dandy-Walker malformation, as well as ambiguous genitalia. After birth, diagnosis of Dandy-Walker malformation associated with uncommon extracranial manifestations is confirmed. Specifically, the baby presents interscrotal hypospadias and coronary sinus dilatation due to the persistence of the left superior vena cava. With the exposition of this case, we bring Malformacion de Dandy-Walker asociada a malformaciones extracraneales en un neonato Dandy-Walker malformation associated with extracranial abnormalities in a newborn out the complexity of the Dandy-Walker syndrome due to the malformations associated with it; the ones that will determine the prognosis and the need of a multidisciplinary treatment.

Background Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations. Case presentation A 3-month-old female infant was admitted to the hospital for developmental retardation. Her prenatal and birth history was unremarkable. After admission, she developed dyspnea and severe anemia and was subsequently transferred to the intensive care unit. Magnetic resonance imaging of her brain showed a Dandy-Walker malformation, and metabolic screening indicated methylmalonic acidemia. Thus, she was diagnosed with methylmalonic acidemia and Dandy-Walker malformation. The patient underwent treatment including acidosis correction, blood transfusion, antibiotics, mechanical ventilation and heat preservation. Unfortunately, her condition progressively worsened and she died of metabolic crisis. Conclusions Dandy-Walker malformation may be a clinical manifestation of methylmalonic acidemia. Additionally, the co-existence of methylmalonic acidemia and Dandy-Walker malformation may be an uncharacterized syndrome which needs to be studied further.

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.

The Ritscher-Schinzel syndrome (RTSCS) is a rare condition with craniofacial, cardiac and fossa posterior abnormalities. RTSCS is subdivided into Ritscher-Schinzel syndrome 1 (RTSCS1) caused by pathogenic variants in coiled-coil domain-containing protein 22 (CCDC22), and Ritscher-Schinzel syndrome 2 (RTSCS2) caused by pathogenic variants in WASH complex subunit 5 (WASHC5). CCDC22 is inherited in an X-linked recessive manner while WASHC5 is inherited in an autosomal recessive manner. Only 17 individuals with a molecular diagnosis are reported. In the past, the diagnosis of RTSCS was solely based on the clinical findings, and minimal diagnostic criteria has been proposed for the syndrome: Cardiac malformations (other than isolated patent ductus arteriosis), fossa posterior malformations, and certain dysmorphic features. However, those criteria are not present in all patients. We aim to further delineate the spectrum of CDCC22 associated RTSCS and present a novel patient with epileptic encephalopathy due to a presumed disease causing CCDC22 missense variant inherited from a healthy mother and grandmother. An affected maternal uncle had passed away at the age of 12 months and was thus unavailable for genetic testing. The proband and the maternal uncle had the typical facial dysmorphism associated with RTSCS, and they closely resembled previously published RTSCS2 patients with a molecular diagnosis. This suggests that RTSCS1 and RTSCS2 patients have a similar facial gestalt. We also review the literature on RTSCS, we explore potential differences and similarities between CCDC22 and W ASHC5 associated RTSCS and discuss the minimal diagnostic criteria.

Background Autosomal‐recessive SLOS is caused by mutations in the DHCR7 gene. It is defined as a highly variable complex of microcephaly with intellectual disability, characteristic facies, hypospadias, and polysyndactyly. Syndrome diagnosis is often missed at prenatal ultrasound and fetal autopsy Methods We performed autopsies and DHCR7 gene analyses in eight fetuses suspected of having SLOS and measured cholesterol values in long‐term formalin‐fixed tissues of an additional museum exhibit Results Five of the nine fetuses presented classical features of SLOS, including four cases with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy‐Walker cyst. These cases allowed for diagnosis at autopsy and subsequent SLOS diagnosis in two siblings. Two fetuses were mildly affected and two fetuses showed additional holoprosencephaly. These four cases and the exhibit had escaped diagnosis at autopsy. The case with bilateral renal agenesis presented a novel combination of a null allele and a putative C‐terminus missense mutation in the DHCR7 gene Conclusions In view of the discrepancy between the prevalence of SLOS among newborns and the carrier frequency of a heterozygous DHCR7 gene mutation, the syndrome‐specific internal malformation pattern may be helpful not to miss SLOS diagnosis in fetuses at prenatal ultrasound and fetal autopsy

Fetal neurosonography and the assessment of the posterior fossa have gained in importance during the last 2 decades primarily due to the development of high-resolution ultrasound probes and the introduction of 3 D sonography. The anatomical development of the posterior fossa can be visualized well with the newest ultrasound technologies. This allows better knowledge of the anatomical structures and helps with understanding of the development of malformations of the posterior fossa. In this article the longitudinal development of the posterior fossa structures will be reviewed. The embryologic description will be compared with ultrasound descriptions. These embryologic and anatomic illustrations form the basis for the screening and diagnosis of malformations of the posterior fossa. During the first trimester, screening for open spina bifida as well as cystic malformations of the posterior fossa is possible. In the second and third trimester, malformations of the posterior fossa can be subdivided into 3 groups: fluid accumulation in the posterior fossa (Dandy-Walker malformation, Blake’s pouch cyst, mega cisterna magna, arachnoid cyst, vermian hypoplasia), decreased cerebellar biometrics (volume) (cerebellar hypoplasia, pontocerebellar hypoplasia) and suspicious cerebellar anatomy (Arnold-Chiari malformation, rhombencephalosynapsis, Joubert syndrome). This algorithm, in combination with knowledge of normal development, facilitates the diagnostic workup of malformations of the posterior fossa. Die fetale Neurosonografie und damit auch die sonografische Beurteilung der Strukturen der Fossa posterior haben in den letzten beiden Jahrzehnten durch den Einsatz hochauflosender Ultraschallsonden und des 3D-Ultraschalls eine besondere Bedeutung erlangt. Durch die neuen Ultraschalltechnologien kann die embryologische Entwicklung der Fossa-posterior-Strukturen nachvollzogen werden. Dies erleichtert die Kenntnis der anatomischen Strukturen und tragt zum Verstandnis fur die Entstehung von Fehlbildungen der Fossa posterior bei. In der folgenden Ubersichtsarbeit wird die longitudinale Entwicklung der Fossa-posterior-Strukturen dargestellt. Dabei wird die embryologische Beschreibung mit der Darstellung im Ultraschall verglichen. Dieses embryologische und anatomische Wissen bildet die Grundlage fur das Screening und die Diagnose von Veranderungen und Fehlbildungen der Fossa posterior. Im Ersttrimester ist ein Screening fur Spina bifida aperta und zystische Fehlbildungen der Fossa posterior moglich. Im 2. und 3. Trimester konnen die Fehlbildungen der Fossa posterior in 3 Kategorien unterteilt werden: Fehlbildungen mit vermehrter Flussigkeit in der Fossa posterior (Dandy-Walker-Malformation, Blakes-pouch-Zyste, Megacisterna magna, Arachnoidalzyste, Vermishypoplasie), Fehlbildungen mit verminderter Biometrie bzw. vermindertem Volumen bei „uberwiegend“ normaler Anatomie des Zerebellums (zerebellare Hypoplasie, pontozerebellare Hypoplasie) und Fehlbildungen mit strukturell verandertem Zerebellum (Arnold-Chiari-Malformation, Rhombenzephalosynapsis, Joubert-Syndrom). Dieser Algorithmus und das Verstandnis der normalen Entwicklung ermoglichen ein systematisches Aufarbeiten der Fehlbildungen der Fossa posterior.

Objective To assess the differential diagnostic significance of a series of quantitative and qualitative variables of the cerebellar vermis in fetuses with posterior fossa cystic malformation, including Dandy-Walker malformation (DWM), vermian hypoplasia (VH) and Blake's pouch cyst (BPC). Methods This was a retrospective study of confirmed cases of DWM, VH and BPC, diagnosed at the Fetal Medicine and Surgery Unit of the Federico II University between January 2005 and June 2013 or the Fetal Medicine and Surgery Unit of G. Gaslini Hospital between July 2013 and September 2017. All included cases had good-quality three-dimensional (3D) volume datasets of the posterior fossa, acquired by transvaginal ultrasound through the posterior fontanelle. The midsagittal view of the posterior fossa was the reference view for the study. We assessed brainstem-tentorium angle and brainstem-vermis angle (BVA), as well as craniocaudal (CCVD) and anteroposterior (APVD) vermian diameters and vermian area (VA), which were normalized by biparietal diameter (BPD) to take into account gestational age (CCVD/BPD × 100, APVD/BPD × 100 and VA/BPD × 100, respectively). Finally, the position of the fourth ventricular choroid plexus (4VCP) was defined as normal ('up') or abnormal ('down'), relative to the roof/cyst inlet of the fourth ventricle. Results We analyzed 67 fetuses with posterior fossa malformations (24 cases of DWM, 13 of VH and 30 of BPC). The mean gestational age at diagnosis was 23.6 weeks. Regardless of gestational age, the BVA differed significantly between the three groups, and the VA/BPD was able to differentiate between VH and BPC. In differentiating between VH and BPC, the greatest areas under the receiver-operating characteristics curve were those for VA/BPD ratio. The 4VCP position was down in all cases of DWM and VH, while it was up in all cases of BPC. Conclusions Our data support the concept that VA/BPD ratio and 4VCP position may be used to differentiate between DWM, VH and BPC in the fetus. In our series, the position of the 4VCP had the highest accuracy, but a larger number of VH cases should be evaluated to confirm that an up position of the 4VCP indicates BPC while a down position indicates DWM or VH. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd.

Sindrom Dandy Walker termasuk hidrosefalus yang sangat jarang terjadi dengan insiden 1 kasus dari 65 kasus hidrosefalus berdasarkan penelitian profil hidrosefalus di RSUDZA Banda Aceh. Insiden di Indonesia sebanyak 50–60% kasus dari operasi bedah saraf. Kasus berikut seorang bayi laki-laki lahir prematur, umur 1 bulan, berat badan 3,5 kg, ukuran lingkar kepala 45 cm, muntah dan kejang. CT-Scan terdapat kista, kalium 7 mmol/l ditegakkan diagnosa sindrom Dandy Walker dengan hiperkalemia. Manajemen neuroanestesi dengan cara premedikasi dan pemasangan kateter intravena 24G dengan sevofluran via masker O2 100% setelah jalur vena terpasang, diberikan fentanil 10 mcg sebagai analgetik dan induksi propofol 10 mg. Rocuronium 3,5 mg sebagai fasilitas intubasi. Pemeliharaan anestesi dengan sevofluran dan oksigen. Ventilasi frekuensi nafas 30 x/menit dilakukan manual dan kemudian dengan ventilator TV 30 ml, I:E = 1:1,5, RR 30 kali per menit, FiO2 100%. Monitoring hasil frekuensi nadi 100 – 130 kali per menit, SpO2 100%, suhu afebris, CO2 30 mmHg. Simpulan: sindrom Dandy Walker kasus yang sangat jarang terjadi dan hidrosefalus sering bersamaan dengan hiperkalemia terjadi pada bayi prematur karena gangguan reaborbsi kalium dan terjadi perpindahan kompartemen dari intraseluler ke ekstraseluler sehingga kalium banyak di ekstraseluler, maka diperlukan manajemen neuroanestesi pediatrik yang adekuat. Neuroanesthesia Management in Dandy Walker Syndrome with HyperkalemiaAbstractDandy Walker syndrome including hydrocephalus which is a very rare case with the incidence of 1 case out of 65 cases of hydrocephalus based on a study of hydrocephalus profile at Zainal Abidin Hospital, Banda Aceh. The incidence of Dandy-Walker syndrome in Indonesia are about 50 - 60% cases from all of neurosurgical cases. The following case was a premature baby, 1 month old, weight 3.5 kg, head cicumference 45 cm, vomit and seizure. Cyst was found in the head CT scan and the potassium level of 7 mmol/l. The patient was diagnosed with Dandy-Walker Syndrome with hyperkalemia. Neuroanesthesia management by premedication and infusion using intravenous cathether 24G with sevoflurane and 100% O2 mask After succesful intravenous cathether, given fentanyl 10 mcg as analgesic and propofol 10 mg as induction. Rocuronium 3.5 mg as a facility for intubation. Maintenance of anesthesia with sevoflurane and oxygen. Respiratory rate 30 breaths per minute with ventilation that was done manually and then with TV on ventilator 30 ml, I: E = 1: 1.5, RR 30x/min, FiO2 100%. Monitoring pulse frequency results of 100–130 beats per minute, 100% SpO2, temperature afebrile, CO2 30 mmHg. Conclusions: Dandy-Walker Syndrome was a very rare case and hydrocephalus was often followed with hyperkalemia that occur in premature infants due to potassium reaboration disorder and the displacement of compartment from intracellular to extracellular so that potassium was abundant at extracellular, hence adequate pediatric neuroanesthesia management was needed.

Dandy-Walker malformation is a rare congenital anomaly affecting the posterior fossa, occurring in one in 30,000 births. Its hallmark characteristics include hypoplasia of the vermis, dilation of the fourth ventricle, and an enlarged posterior fossa. This case study describes a finding of Dandy-Walker malformation during a workup of encephalopathy in a patient on veno-venous extracorporeal membrane oxygenation for acute respiratory distress syndrome.

Introduction: The objective of the study was to provide more detailed data about fetal isolated upward rotation of the cerebellar vermis rotation (Blake’s pouch cyst) in particular regarding pregnancy outcome. Methods: This is a retrospective study of all cases of fetal isolated upward rotation of the cerebellar vermis (URCV) diagnosed in 3 referral centers in Italy from January 2009 to November 2019. Whenever possible, prenatal magnetic resonance imaging (MRI) was performed and a fetal karyotype was obtained. A detailed follow-up was obtained by consultation of medical records, interview with the parents, and the pediatricians. Results: Our study population included 111 patients with a prenatal diagnosis of isolated URCV made at a median gestational age of 21 weeks +3 days (interquartile range (IQR) 21 + 0–22 + 2). The median brain stem-vermis (BV) angle was 27° (IQR 24–29°). In 37.9% of the cases, a regression of the finding with restoration of normal anatomy was noted at a follow-up scan or at postnatal checks. A BV angle of 25° or less predicted regression with a probability in excess of 90%. MRI was performed in utero or at birth in 101 patients and always confirmed sonographic diagnosis. Fetal CGH array and/or karyotype was available in 97 cases and was always normal, but in 1 case. A postnatal follow-up was available in 102 infants (mean 7 months, range 0–10 years of age) and documented a normal neurologic development in all the cases. Conclusions: Isolated URCV is most likely a normal variant of fetal anatomy without clinical consequences, at least at an early follow-up. A BV angle of 25° or less predicts intrauterine regression of the finding, but the outcome is good in all the cases. When a confident sonographic diagnosis is made, MRI is not mandatory. The risk of a chromosomal anomaly in these cases is probably low.

Introduction Neurocutaneous melanosis (NCM) is a rare congenital syndrome. Except for some retrospective studies, information on clinical follow-up and management of these patients are limited. This study aimed to review our experience on diagnostic protocol and clinical follow-up of patients with NCM in a referral children's hospital in Iran. Methods Between 2012 and 2019, eight patients with NCM were consecutively managed in our center. Brain magnetic resonance imaging and cutaneous biopsy were done in all patients at diagnosis. Follow-up surveillance and characteristics of the disease are described. Results The mean follow-up period was 25.75 ± 13.81 months, and 75% of patients were male. Most magnetic resonance imaging findings were hypersignal lesions in the temporal lobe (75%), cerebellum (62.5%), brainstem (50%), and thalamus (12.5%). Dandy-Walker syndrome was found in 4 patients (50%), and shunt-dependent hydrocephalus was found in 3 patients (37.5%). Cutaneous malignant melanoma and malignant involvement of the central nervous system were found in 2 (25%) and 3 cases (37.5%), respectively. The mortality rate was 37.5%. Conclusions There are no specific guidelines for management of NCM due to the rarity of the disease. This study proposed modifications in diagnostic criteria, as well as recommendations for follow-up surveillance.

Background Kabuki syndrome (KS) is a rare congenital condition with cardinal manifestations of typical facial features, developmental delays, skeletal anomalies, abnormal dermatoglyphic presentations, and mild to moderate intellectual disability. Pathogenic variants in two epigenetic modifier genes, KMT2D and KDM6A, are responsible for KS1 and KS2, respectively. Case presentation A Chinese girl had persistent neonatal hypoglycemia and Dandy-Walker variant. Whole-exome sequencing identified a novel single nucleotide deletion in KMT2D (NM_003482.3 c.12165del p.(Glu4056Serfs*10)) that caused frameshift and premature termination. The mutation was de novo. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, this variant is considered pathogenic. The patient was diagnosed with KS by molecular testing. Conclusion A single novel mutation in KMT2D was identified in a KS patients with hypoglycemia and Dandy-Walker variant in the neonatal stage. A molecular test was conducted to diagnose KS at an early stage.

OBJECTIVE Treating Dandy-Walker syndrome–related hydrocephalus (DWSH) involves either a CSF shunt-based or endoscopic third ventriculostomy (ETV)–based procedure. However, comparative investigations are lacking. This study aimed to compare shunt-based and ETV-based treatment strategies utilizing archival data from the Hydrocephalus Clinical Research Network (HCRN) registry. METHODS A retrospective review of prospectively collected and maintained data on children with DWSH, available from the HCRN registry (14 sites, 2008–2018), was performed. The primary outcome was revision-free survival of the initial surgical intervention. The primary exposure was either shunt-based (i.e., cystoperitoneal shunt [CPS], ventriculoperitoneal shunt [VPS], and/or dual-compartment) or ETV-based (i.e., ETV alone or with choroid plexus cauterization [CPC]) initial surgical treatment. Primary analysis included multivariable Cox proportional hazards models. RESULTS Of 8400 HCRN patients, 151 (1.8%) had DWSH. Among these, the 102 patients who underwent shunt placement (79 VPSs, 16 CPSs, 3 other, and 4 multiple proximal catheter) were younger (6.6 vs 18.8 months, p < 0.001) and more frequently had 1 or more comorbidities (37.3% vs 14.3%, p = 0.005) than the 49 ETV-treated children (28 ETV-CPC). Fifty percent of the shunt-based and 51% of the ETV-based treatments failed. Notably, 100% (4/4) of the dual-compartment shunts failed. Adjusting for age, baseline ventricular size, and comorbidities, ETV-based treatment was not significantly associated with earlier failure compared with shunt-based treatment (HR for failure 1.32, 95% CI 0.77–2.26; p = 0.321). Complication rates were low: 4.9% and 6.1% (p = 0.715) for shunt- and ETV-based procedures, respectively. There was no difference in survival between ETV-CPC– and ETV-based treatment when adjusting for age (HR for failure 0.86, 95% CI 0.29–2.55, p = 0.783). CONCLUSIONS In this North American, multicenter, prospective database review, shunt-based and ETV-based primary treatment strategies of DWSH appear similarly durable. Pediatric neurosurgeons can reasonably consider ETV-based initial treatment given the similar durability and the low complication rate. However, given the observational nature of this study, the treating surgeon might need to consider subgroups that were too small for a separate analysis. Very young children with comorbidities were more commonly treated with shunts, and older children with fewer comorbidities were offered ETV-based treatment. Future studies may determine preoperative characteristics associated with ETV treatment success in this population.

Background The GBD study allows comparison of health conditions among different societies and cultures. This permits also to estimate health variations over a long time in a single nation, overcoming the difficulties deriving from social and economic changes. INAIL, the National Institute for Insurance against Accidents at Work, provides since 1884, detailed data about the number of events and their consequences, age and sex of injured workers, and the total number of insured workers. Such data allow us to estimate DALYs in terms of incidence and prevalence, and under different mortality models. Methods 1.8 mln. individual injury records occurred in 1990-2015 were transcoded into GBD injury categories. YLLs and YLDs were calculated considering life expectancy, DWs and duration, then distributed by compensation category. The YLLs and YLDs of permanent disabilities have been assessed with reference both to the life expectancy of the GBD 2017 and, in a competitive mortality model, to mean values at the time of the accident. Estimated DALYs were assessed both in terms of incidence and prevalence. Results Around 1900, an industrial worker suffered on average 0.087 incident DALY/year for occupational injuries, or 0.058 in a competitive mortality model. These values remained almost stationary until WWII when they showed a peak around 0.11, then declined to about a third in the 1970s, and to about a twentieth in 2017. The YLL / DALY ratio was 0.82 around 1900, then slowly decreased to less than 0.5 in the late 1930s, rose to a new peak around 0.8 in WWII, then diminished again to 0.32 in 2017. Considering prevalence, variations are much slower, due to the expected average durations of permanent disabilities, between 32.5 and 52 years. Risk breakdown by main industry sectors is ongoing. Conclusions DALY rate and YLL/DALY injuries declined largely along time. Nevertheless, such events continue to leave a very long-term legacy of disabilities. Key messages INAIL data permit to estimate burden for occupational injuries occurred in Italy along over a century. Injury burden declined over time, but continues to leave a legacy of long-term disabilities.

Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.

A female infant is born at 40 weeks 2 days gestational age to a 52-year-old gravida 8, para 7 mother via vaginal delivery with Apgar scores of 9 and 9. The infant is admitted to the NICU for mild respiratory failure that needed continuous positive airway pressure (CPAP) support and for further evaluation of neurologic malformation diagnosed on prenatal ultrasonography. The maternal history is significant for advanced maternal age and consanguinity (first-degree cousins). The infant’s physical examination findings are significant for decreased range of motion and increased tone in all 4 extremities. In the NICU, the infant is noted to have recurrent apnea associated with abnormal rhythmic movements concerning for neonatal seizures. However, 24-hour continuous video electroencephalography (vEEG) does not demonstrate electrographic seizures and there is no correlation between cortical wave function and her inability to open eyes. Although she blinks rapidly in response to light and brisk pupillary stimulus, she does not spontaneously open her eyes on either side, for which she is evaluated by ophthalmology. There are no signs suggestive of Horner syndrome. Fundus examination by the pediatric ophthalmologist reveals the presence of an optic nerve with a large, deep cup (0.5 in the right eye and 0.65 in the left eye), minimal temporal pallor in the left eye, and unremarkable retina and macula in …

Dandy-Walker syndrome (DWS) affects the posterior cranial fossa resulting in characteristic dysmorphic facial and body features. Scoliosis is not typically reported as an extracranial manifestation of this condition. We present a 12-year-old female patient who developed a right thoracic scoliosis measuring 60° with increased lumbar lordosis. Scoliosis correction was indicated to alleviate back pain, improve cosmesis, and prevent respiratory complications. A multidisciplinary preoperative assessment included cardiac, respiratory, anaesthetic, and neurology reviews. She underwent a posterior spinal fusion from T2 to L3 with pedicle hook/screw and rod instrumentation and a combination of locally harvested autologous and allograft bone. This resulted in excellent deformity correction and a balanced spine in the coronal and sagittal planes. The patient made an uneventful recovery and returned gradually to her normal level of activities. She was monitored in clinic until she completed her growth (4 years after surgery); the satisfactory surgical outcome was maintained at follow-up and was associated with high patient satisfaction. Scoliosis can occur in children with DWS with resemblance to adolescent idiopathic scoliosis in regard to type of coronal deformity, age at presentation, surgical techniques, and postoperative recovery. Early identification of scoliosis in patients with DWS can allow preoperative planning and prompt surgical management in order to reduce the risk of significant morbidity which can occur if the scoliosis is allowed to deteriorate. Excellent deformity correction can be achieved and maintained beyond skeletal maturity in order to improve physical appearance, as well as preserve level of function and quality of life.

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.

BackgroundDandy-Walker malformation features agenesis/hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of posterior fossa. Although Dandy-Walker malformation is relatively common and several genes were linked to the syndrome, the genetic cause in the majority of cases is unknown.ObjectiveTo identify the mutated gene responsible for Dandy-Walker malformation, kidney disease and bone marrow failure in four patients from two unrelated families.MethodsMedical assessment, sonographic, MRI and pathological studies were used to define phenotype. Chromosomal microarray analysis and whole-exome sequence were performed to unravel the genotype.ResultsWe report four subjects from two unrelated families with homozygous mutations in the Exocyst Complex Component 3-Like-2 gene (EXOC3L2).EXOC3L2 functions in trafficking of post-Golgi vesicles to the plasma membrane. In the first family a missense mutation in a highly conserved amino acid, p.Leu41Gln, was found in three fetuses; all had severe forms of Dandy-Walker malformation that was detectable by prenatal ultrasonography and confirmed by autopsy. In the second family, the affected child carried a nonsense mutation, p.Arg72*, and no detected protein. He had peritrigonal and cerebellar white matter abnormalities with enlargement of the ventricular trigones, developmental delay, pituitary hypoplasia, severe renal dysplasia and bone marrow failure.ConclusionWe propose that biallelic EXOC3L2 mutations lead to a novel syndrome that affects hindbrain development, kidney and possibly the bone marrow.

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. 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. 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. Previous literature about pathogenesis, treatment, and follow-up is discussed and summarized.

Objective To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH). Methods This study involved 77 pregnancies with PFAs who underwent CMA. Results Chromosomal aberrations including pathogenic CNVs and variants of unknown significance were detected in 31.2% (24/77) of all cases by CMA and in 18.5% (12/65) in fetuses with normal karyotypes. The high detection rate of clinically significant CNVs was evident in fetuses with cerebellar hypoplasia (54.6%, 6/11), vermis hypoplasia (33.3%, 1/3), and Dandy-Walker malformation (25.0%, 3/12). Compare with fetuses without other anomalies, cases with CH and additional malformations had the higher CMA detection rate (33.3% vs 88.9%). Three cases of isolated unilateral CH with intact vermis and normal CMA result had normal outcomes. The deletion of 5p15, 6q terminal deletion, and X chromosome aberrations were the most frequent genetic defects associated with cerebellar hypoplasia. Conclusion Among fetuses with PFA, those with cerebellar hypoplasia, vermis hypoplasia, or Dandy-Walker malformation are at the highest risk of clinically significant CNVs. Chromosomal microarray analysis revealed the most frequent chromosomal aberrations associated with CH.

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.

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 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.

We discuss 10 cases of Dandy–Walker syndrome that presented between May 2014 and June 2015 at the Department of Neurosurgery and General Surgery in Acharya Vinoba Bhave Rural Hospital, Sawangi (M), Wardha, India. As the definitive surgical treatment protocol is not standardized, we discuss the different techniques used. Combined cystoperitoneal (CP) and ventriculoperitoneal (VP) shunt was done in three cases, two were treated with CP shunt alone, and the remaining five cases were managed with VP shunt.Follow-up showed marked reduction in the head circumference and better motor development, along with alleviation of other neurological symptoms.Seizures, hearing or visual problems, various central nervous system abnormalities, and systemic abnormalities were associated with poor intellectual development and could be used to predict intellectual outcome.Prognosis varies due to several factors, but an early diagnosis and appropriate treatment have a good prognostic value.

INTRODUCTION The primary aim of this study was to ascertain the prevalence the individual conditions and of associated anomalies in fetuses with the prenatal diagnosis of enlarged posterior fossa and to explore the diagnostic accuracy of ultrasound in these anomalies. The secondary aim was to evaluate the post-natal outcome of children affected by posterior fossa anomalies. MATERIAL AND METHODS All fetuses with enlarged posterior fossa detected by prenatal sonography at a referral center from 2001-2015 were analyzed retrospectively. Some were also studied by fetal magnetic resonance imaging (MRI) or volume ultrasound examinations. Fetal sonographic and MRI were compared using following classification: Dandy-Walker malformation; Megacisterna magna (MCM); Blake's pouch cyst; isolated vermian hypoplasia; vermian agenesis; posterior fossa arachnoid cyst; and cerebellar hypoplasia. RESULTS Among the 69 fetuses the ultrasound diagnoses were: MCM (n=29; of these isolated n=15), Dandy-Walker malformation (n=28, isolated n=4), vermian hypoplasia (n=5, isolated n=4), Blake's pouch cyst (n=4, isolated n=1), cerebellar hypoplasia (n=2; none isolated) and arachnoid cyst in the posterior fossa (n=1, isolated). 13 of the 41 karyotyped fetuses were aneuploid, including seven with Dandy-Walker malformation. Associated malformations were found in 37/69 cases. There were 39 live births, including 11 with confirmed Dandy-Walker malformation six of whom show a normal development. 12 infants with truly isolated MCM show normal development. There were eight false-positive prenatal diagnoses (or resolution until birth) of "enlarged posterior fossa": Three with Blake's pouch cyst, two MCM and one with vermian hypoplasia. CONCLUSIONS An enlarged posterior fossa requires specific diagnoses for best possible counseling. The term "Dandy-Walker variant" should not be used any more. Isolated MCM and Blake's pouch cyst can either resolve or be normal variants, but may also indicate the presence of a more severe anomaly or associated malformations. This article is protected by copyright. All rights reserved.

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.Keywords: Dandy–Walker, neuroanaesthesia, paediatric anaesthesia

Introduction: Dandy-Walker Malformation is an inborn condition that includesthe triumvirate of cystic enlargement of the fourth ventricle, posterior fossa distension with riseof the tentorium and agenesis of cerebellar vermis. The purpose of this study is to determinethe Clinical presentation and associated complications, mortality and morbidity of patientundergoing placement of shunt with Y- connector in Dandy Walker Malformation. StudyDesign: Case Series comprised of 85 cases. Setting: Neurosurgery Ward of Tertiary CareHospital in Karachi. Period: February 2011 to December 2015. Methodology: All patients whowere presented in OPD with complaints reminiscent of DWM with accompanied Hydrocephalusand 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 wereomitted. These patients undergo drainage of Ventricular system and Posterior Fossa cyst wasdone mutually via Dual Shunt including Ventricular-peritoneal and Cysto-peritoneal shunt withY connector. There were few complications and mortality after this surgical intervention whichwas noted for a month. All records were recorded and evaluated by SPSS v.20. Result: Avast 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 signsincludes; milestones were delayed, atypical gait and few patients were suffered from psychiatricproblems. 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 amonth 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. Thecommonest difficulty acknowledged after shunting is Malfunction and shunt infections. Thelowest mortality is related to Dual Shunt with Y connector when compared to other approachesfor management of shunt with Y-connector. Thus, it is found to be a worthy decision in givenDWM patients.

Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy–Walker spectrum malformation, using Next Generation Sequencing approach in prenatal diagnosis. Methods Whole exome sequencing (WES) approach has been performed on fetal genomic DNA. After reads preprocessing, mapping, variant calling, and annotation, a filtering strategy based on allelic frequency, recessive inheritance, and phenotypic ontologies has been applied. A fetal magnetic resonance imaging (MRI) at 18 weeks of gestation has been performed. An in silico analysis of a potential causative missense variant in the fukutin protein has been carried out through a structural modeling approach. Results We identified a new homozygous missense mutation in fukutin gene (FKTN, NM_006731.2: c.898G>A; NP_006722.2: p.Gly300Arg). Fetal MRI supported molecular findings. Structural modeling analyses indicated a potential pathogenetic mechanism of the variant, through a reduced activation of the sugar moieties, which in turn impairs transfer to dystroglycan and thus its glycosylation. These findings pointed to a redefinition of the US suspicion of recurrence of Dandy–Walker malformation (DWM) to a muscular dystrophy‐dystroglycanopathy type A4. Conclusions The present case confirmed WES as a reliable tool for the prenatal identification of the molecular bases of early‐detected CNS malformations., Prenatal diagnosis of central nervous system (CNS) anomalies following standard diagnostic procedures is challenging. Posterior fossa malformations are among the most diagnosed CNS anomalies detected by ultrasound in prenatal age. Whole exome sequencing (WES) approach on fetal genomic DNA and structural in silico analysis helped redefine a prenatal clinical suspicious of Dandy–Walker malformation to muscular dystrophy dystroglycanopathy Type A through the identification of a new fukutin homozygous missense mutation (NM_006731: c.898G>A; NP_006722.2: p.Gly300Arg). Prenatal diagnosis in cases of nonspecific or early‐detected CNS phenotypes can be lengthy and difficult. Multidisciplinary diagnostic approach combining instrumental (high‐quality fetal magnetic resonance imaging) and molecular analyses (WES) in fetuses with CNS structural anomalies could be a reliable approach.

The clinical variability of Blakeʼs pouch cysts (BPC) may range from asymptomatic via ataxia to sequelae of decompensated hydrocephalus. On the other hand, Dandy-Walker malformation (DWM) and cerebellar vermis hypoplasia generally correlate with less favorable neurologic development. The aim was to illustrate the potential of prenatal and postnatal neuroimaging to distinguish a BPC or persistent BP from other posterior fossa malformations. This pictorial review addresses the inconsistent nomenclature, clinical features, and magnetic resonance imaging (MRI) patterns of BPC and five differential diagnoses. The MRI findings of 11 patients, acquired at up to 3 T in 3 institutions, are demonstrated. Furthermore, the literature was searched for recent improvements in genetic and embryological background knowledge. Posterior fossa malformations often resemble each other and may even be imitated by sequelae of hemorrhagic, ischemic or infectious disruptions, i.e. congenital anomalies of morphology despite normal developmental potential. Hydrocephalus is a typical, albeit not always congenital finding in BPC. It is frequently associated with cerebellar disruptions and DWM; however, it is also a rare complication of posterior fossa arachnoid cysts. A moderately elevated vermis needs follow-up to confirm persistent BP versus vermian hypoplasia or DWM. The fetal cerebellar tail, previously assumed to be specific for DWM, may be imitated in cases of persistent BP. The accurate diagnosis of isolated BPC is not always straightforward, which is especially critical in the context of fetomaternal medicine. A detailed description of posterior fossa malformations is to be preferred over unspecific terminology.

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

Dandy-Walker syndrome is a rare congenital brain malformation that requires unique anesthetic considerations. We present a rare case of an 18-month-old boy with Dandy-Walker syndrome presenting with 17% total body surface area burns undergoing multiple general anesthetics for both operative and bedside procedures. Numerous lessons were learned during multiple anesthetics, which influenced and guided our subsequent anesthetic management. The preoperative assessment, risk for respiratory apnea, opioid management, risk for laryngospasm, and postoperative care of patients with Dandy-Walker syndrome were all lessons learned.