Speech and Language Delays Associated With New-Onset Seizures Revealing Dandy-Walker Variant.

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.

A large growing occipital meningocele with Dandy-Walker syndrome: A case report and review of the literature.

Background: Dandy-Walker syndrome (DWS) is a well-known developmental anomaly. An occipital meningocele (OMC) is recognized as a malformation that is relatively often associated with DWS, but the association of DWS with OMC has been reported in approximately 40 cases. We present herein a rare clinical course of DWS with OMC, in which the sac was small at birth and became progressively larger. Case Description: A 5-day-old baby boy was referred to our hospital due to OMC. He was born at 33 gestational weeks due to premature rupture of the membranes. He was diagnosed as having DWS associated with OMC. The OMC was covered with skin and its maximum diameter at birth was 3 cm. Magnetic resonance imaging showed an occipital bone defect and continuity of the fourth ventricle, posterior fossa cyst, and OMC sac. The aqueduct was patent, and no hydrocephalus was found. The OMC sac increased progressively with moderate hydrocephalus and reached 7 cm at the age of 54 days when his weight was 2508 g. A cystoperitoneal shunt and repair were performed after sinus venography by contrast computed tomography (CT). At the age of 1 year and 8 months, he had moderate developmental disabilities. Conclusion: In most cases reported, the OMC was relatively small, and large and giant sizes were reported in only six cases. Almost all cases remained the same size as at birth and underwent surgical intervention as early as possible. It was possible to understand the relationship between the occipital bone defect and abnormal running of sinuses such as the superior sagittal sinus, torcular Herophili, and transverse sinus preoperatively from the CT venography (CTV) image. CTV may be an effective and important method for safely performing repair and shunt.

Diagnosis and Treatment of Dandy-Walker Syndrome With Two Types of Ventriculoperitoneal (VP) Shunts: A Case Report.

Dandy-Walker Syndrome (DWS) is a rare congenital neurological condition characterized by cerebellar and posterior fossa malformations, often presenting a variable clinical spectrum. Common complications include hydrocephalus, necessitating interventions like ventriculoperitoneal (VP) shunts, and endoscopic third ventriculostomy (ETV). We describe the case of a five-month-old infant conceived through in vitro fertilization (IVF), initially presenting with cold-like symptoms, later diagnosed with DWS. The patient underwent VP shunt placement for hydrocephalus management, with subsequent complications requiring shunt revisions and ETV. Vigilant monitoring and timely interventions were crucial for a favorable outcome, highlighting the challenges in diagnosing and managing DWS and the importance of tailored treatment strategies.

Clinical features and genetic analysis of Dandy-Walker syndrome.

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.

Keratitis-ichthyosis-deafness syndrome: A comprehensive review of cutaneous and systemic manifestations.

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.

Surgical management of Dandy-Walker syndrome in infants and the literature review / 中国综合临床

Dandy-Walker syndrome is one of the posterior fossa malformations, which is easily confused with arachnoid cyst or cerebellar dysplasia in clinical practice, leading to misdiagnosis. Dandy-Walker syndrome is easy to be combined with hydrocephalus, resulting in increased intracranial pressure, increased head circumference, growth retardation, spastic hemiplegia and other manifestations, and can also be accompanied by other nervous system malformations. On February 27, 2021, a child with Dandy-Walker syndrome with growth retardation as the primary manifestation was admitted to Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine. After multiple surgical treatment, the child's hydrocephalus was significantly improved. Through the analysis of the clinical data of the child's operation and the treatment of complications, it is helpful to improve the clinicians' understanding of the surgical treatment of the disease.

Dandy-Walker Syndrome: Delayed Acute Presentation With Unusual Symptoms.

Dandy-Walker syndrome (DWS) is a rare congenital brain malformation defined by the presence of an expanded posterior fossa, full or partial absence of the cerebellar vermis, and a cystic expansion of the fourth ventricle. We report an 18-month-old girl with DWS presenting with atypical clinical manifestations and unusual symptoms. She initially presented with persistent vomiting and abdominal pain for four days, not responding to antiemetic medication. In addition, she was found to have abnormal postural arching of the back, extension of the lower limbs, and neck extension. MRI and CT head suggested Dandy-Walker syndrome with hydrocephalus (the lateral ventricle, third ventricle, and fourth ventricle are all significantly dilated with evidence of trans-ependymal cerebrospinal fluid permeation, severe compression anterior displacement of the brain stem). The patient underwent urgent, lifesaving right sub-occipital craniotomy, evacuation, and decompression of the posterior fossa cyst and external ventricular drain (EVD) insertion along with left supra-tentorial EVD insertion. A series of brain magnetic imaging and CT brain post-procedure studies showed a significant reduction in the size of the ventricular system and mass effect on the brain stem.

A Rare Case of Dandy-Walker Syndrome.

Dandy-Walker syndrome (DWS) is a rare congenital malformation characterized by hypoplasia of the cerebellar vermis and its upward rotation and cystic enlargement of the fourth ventricle. The clinical manifestations include psychomotor retardation, ataxia and hydrocephalus. We report a case of 16-year-old female patient in Ali Abad Teaching Hospital who was suffering from unsteady gait, memory deterioration and urinary incontinence. A brain magnetic resonance imaging revealed enlarged cystic posterior fossa, dilated fourth ventricles and upward rotated cerebellar vermis which were indicating DWS. The patient prepared for planned surgical operation and a written informed consent was obtained from her parents for surgery and general anesthesia. A cystoperitoneal (CP) shunt was placed and then the patient transferred to recovery room. After recovery and hospital stay, the patient discharged with improved clinical symptoms.

Dandy-Walker syndrome with bilateral choanal atresia: A case report.

INTRODUCTION: Dandy-Walker syndrome is a rare congenital brain malformation characterized by cerebellar vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa causing upward displacement of tentorium and torcula. In this paper, we present a case of bilateral choanal atresia with Dandy-Walker Syndrome in a female newborn. CASE PRESENTATION: We present a case of a female patient who was born at 38th weeks of gestation via emergency cesarean section due to non-reassuring cardiotocography and abnormal antenatal ultrasounds findings. The imaging revealed the presence of Dandy-walker malformation. The patient presented with cyanosis and respiratory distress. Bedside flexible nasoendoscopy revealed bilateral choanal atresia which is confirmed by computed tomography of sinuses. Endoscopic bilateral choanal atresia repair was performed. On postoperative follow up, nasal endoscopy showed bilateral intact flap and patent neochoana. DISCUSSION AND CONCLUSION: Dandy-Walker syndrome is a congenital disorder that can be diagnosed prenatally. The syndrome is associated with multiple anomalies. However, there are few published reports of bilateral choanal atresia in Dandy-Walker Syndrome. Bilateral choanal atresia is considered a life-threatening condition in newborns that requires early surgical intervention.

Dandy-Walker Variant Associated with Bilateral Congenital Cataract.

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.

[Dandy-Walker malformation associated with extracranial abnormalities in a newborn]. / Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato.

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 Malformación 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.

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy- Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato / Dandy-Walker malformation associated with extracranial abnormalities in a newborn

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy-Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

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 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

Revisiting Dandy-Walker Malformation with Associated Neurofibromatosis.

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.

A rare case of Dandy-Walker syndrome in the 12-year-old girl.

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.

Tremor Caused by Dandy-Walker Syndrome Concomitant with Syringomyelia: Case Report and Review of the Literature Review.

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.

Genetic diagnosis of a fetus with Dandy-Walker syndrome / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*Methods@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*Results@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation.@*Conclusion@#The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.

Transient ischemic attack in elderly patient with PHACE syndrome.

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.

Dandy-Walker syndrome associated with syringomyelia in an adult: a case report and literature review.

Dandy-Walker syndrome associated with syringomyelia is a rare condition, with few reports of adult cases. We describe an adult case of Dandy-Walker syndrome with concomitant syringomyelia. A 33-year-old man presented with a 3-month history of walking instability, numbness in the hands, memory deterioration, and urinary incontinence. A physical examination showed a positive Romberg sign. Brain computed tomography and magnetic resonance imaging showed hydrocephalus, a cyst in the posterior fossa, absence of the cerebellar vermis, hypoplasia of the corpus callosum and cerebella, and syringomyelia. All of these symptoms were consistent with the diagnosis of Dandy-Walker syndrome. Surgery involving arachnoid adhesiolysis and endoscopic third ventriculostomy was performed. At the 6-month follow-up, the symptoms were completely relieved. Magnetic resonance imaging showed that syringomyelia was greatly reduced and the hydrocephalus remained unchanged. Dandy-Walker syndrome with concomitant syringomyelia in adults is exceedingly rare. Early diagnosis and appropriate surgical treatment of this condition should be highlighted. Combined arachnoid adhesiolysis and endoscopic third ventriculostomy may be an effective approach.

Ligneous conjunctivitis in a Dandy-Walker syndrome: A rare case report.

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.

Differential Diagnoses and Their Implications of Dandy-Walker Malformation or Isolated Cisterna Magna, a Case Study: Baby V.

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.