Dandy-Walker Research Articles

Hydrocephalus and Dandy-Walker syndrome. Clinical case

Introduction. Dandy-Walker syndrome (DWS) is a developmental abnormality characterized by dilated posterior fossa, cystic enlargement of the fourth ventricle, hypoplasia of cerebellar vermis, and its upward rotation. The affected person may suffer from psychomotor retardation, ataxia, apnea attacks, muscle weakness, occasional muscle spasm, seizures, nystagmus, and macrocephaly. However, half of the cases have average intelligence. Clinical Case. Male newborn at 36 weeks gestation obtained by cesarean section, with a history in the current pregnancy of poor prenatal control. During the fifth month of pregnancy, an ultrasound established a diagnostic suspicion of massive ventriculomegaly. At the sixth month, thinning of the cerebral cortex compression of the cerebellum in the posterior fossa was detected, and a possible ruling out of chromosomopathy related to Dandy-Walker Syndrome was suggested. Discussion. Neurologically, this disease causes multiple anomalies, such as Hemorrhagic Stroke in a Young Adult with Undiagnosed Asymptomatic Dandy–Walker Malformation (5). The embryonic development of the cerebellum and fourth ventricle causes the tentorium to be displaced upwards, and the posterior fossa enlarges. The association of hydrocephalus with DWS is due to blockage of normal cerebrospinal flow, leading to an excessive amount of fluid accumulating in and around the brain and causing an increase in intracranial pressure and head circumference, which ultimately causes neurological impairment. Conclusions. The prognosis of patients with this syndrome depends on the association with intra/extracranial malformations. Early diagnosis of central nervous system abnormalities is considered one of the first objectives of obstetric ultrasound.

PHACE(S) SYNDROME - EARLY DIAGNOSTICS IN THE MAXILLOFACIAL AREA.

The aim: To determine the minimum criteria for early diagnosing PHACE(S) syndrome in neonates and infants with infantile hemangioma (IH) in the max¬illofacial area. Materials and methods: A total of 26 asymptomatic children from 20 days to six months of aged with IH of more than 5 cm² in the maxillofacial area were included in this study. A medical record of patients clinical examination, Holter monitoring, echocardiographic ultrasound and magnetic resonance imaging (MRI) were analysed. The IH treatment with β-blockers was carried out. Results: IH localization was diagnosed: 62% with a lesion of a part facial segment, 23% in one segment, 15% in several segments (p=0.018), and 12% with other parts of the body lesion (p=1.000). The patent foramen ovale was diagnosed in 35% of children. Central nervous system disorders were observed in 12% over two years of age. The indices of Holter monitoring and blood glucose changed in age norm range during treatment. Cardiovascular (the aortic coarctation (p=0.003) and brain (the Dandy-Walker malformation) (p=0.031) abnormalities were determined in two cases (8%) according to the MRI only. We diagnosed PHACE(S) syndrome in both these cases of children, only aged 12 months and 2.5 years old. Conclusions: Early diagnosis of PHACE(S) syndrome is possible on a contrast-enhanced MRI performed in asymptomatic neonates and infants with the facial several segmental IH with / without ulceration (p=0.018, p=0.046; p < 0.05) for recognition of presymptomatic cardiovascular and brain abnormalities.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature

BackgroundChromosome 13q deletion syndrome shows variable clinical features related to the different potential breakpoints in chromosome 13q. The severely malformed phenotype is known to be associated with the deletion of a critical region in 13q32. However, esophageal atresia is a rare symptom and the relevant region is unknown. Thus, determining the association between accurate breakpoints and new clinical features is essential.Case presentationA 28-year-old Japanese primigravid woman was referred for fetal growth restriction, absence of a gastric bubble, cerebellar hypoplasia, overlapping fingers, and polyhydramnios at 31 weeks gestation. At 38 + 0 weeks, she delivered a 1774 g female infant. The infant presented with isolated esophageal atresia (Gross type A), Dandy–Walker malformation, right microphthalmia, left coloboma, overlapping fingers, pleurocentrum in the thoracic vertebrae, reduced anogenital distance, and hearing loss. Her karyotype was diagnosed as 46,XX,del(13)(q32.1–qter) by amniocentesis, but array comparative genomic hybridization after birth revealed the deletion of 13q31.3–qter. At 48 days after birth, the infant underwent surgery for esophageal atresia and was later discharged from the hospital at 7 months of age.ConclusionThis case report and the literature reviews supports the previous findings on the pathological roles of haploinsufficiency of the ZIC2/ZIC5 in Dandy–Walker malformation and the EFBN2 haploinsufficiency in eye malformation and hearing loss. Furthermore, the possible involvement of IRS2, COLA1, and COLA2 in eye malformation were identified. This is the first case of 13q deletion syndrome with esophageal atresia (Gross A), but it may be a symptom of VATER/VACTER association (vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula with or without esophageal atresia, renal malformations, and limb defects), as in the previous cases. These symptoms might also be associated with EFBN2 haploinsufficiency, although further research is required.

Dental considerations and management of a patient with dandy-walker syndrome: A case report

Dental considerations and management of a patient with dandy-walker syndrome: A case report

Pathogenic/likely pathogenic copy number variations and regions of homozygosity in fetal central nervous system malformations.

To explore pathogenic/likely pathogenic copy number variations (P/LP CNVs) and regions of homozygosity (ROHs) in fetal central nervous system (CNS) malformations. A cohort of 539 fetuses with CNS malformations diagnosed by ultrasound/MRI was retrospectively analyzed between January 2016 and December 2019. All fetuses were analyzed by chromosomal microarray analysis (CMA). Three cases with ROHs detected by CMA were subjected to whole-exome sequencing (WES). The fetuses were divided into two groups according to whether they had other structural abnormalities. The CNS phenotypes of the two groups were further classified as simple (one type) or complicated (≥ 2 types). (1) A total of 35 cases with P/LP CNVs were found. The incidence of P/LP CNVs was higher in the extra-CNS group [18.00% (9/50)] than in the isolated group [5.32% (26/489)] (P < 0.01), while there was no significant difference between the simpletype and complicated-type groups. (2) In the simple-type group, the three most common P/LP CNV phenotypes were holoprosencephaly, Dandy-Walker syndrome, and exencephaly. There were no P/LP CNVs associated with anencephaly, microcephaly, arachnoid cysts, ependymal cysts, or intracranial hemorrhage. (3) Only four cases with ROHs were found, and there were no cases of uniparental disomy or autosomal diseases. The P/LP CNV detection rates varied significantly among the different phenotypes of CNS malformations, although simple CNS abnormalities may also be associated with genetic abnormalities.

Neurocutaneous melanocytosis with manifestation in adulthood

A 20-year-old patient was presented with subacute onset of headache, nausea and vomiting. Testing of nasal/oropharyngeal swabs indicated the presence of SARS-CoV-2 RNA, and later the antibodies to this virus were found. The treatment in the hospital for Coronavirus 19 Disease (COVID-19) provided only temporary relief, and the patient then was referred to the Regional Stroke Center (RSC) to exclude a subarachnoid hemorrhage. RSC neurologists drew attention to multiple skin nevi in the patient. Brain MRI demonstrated abnormal T1 hyperintensity in the brain leptomeninges, with leptomeningeal contrast enhancement as well as hyperintensity in amygdala regions on T1 weighted images, bilaterally. The anomaly of the Dandy-Walker malformation complex was also revealed. Cerebrospinal fluid (CSF) analysis showed elevated protein (0.52 g/L), low lymphocytosis (lymphocytes, 6 in mm3), and decreased glucose (1.8 mmol/L). Neurocutaneous melanocytosis (NCM) was diagnosed, which neurological manifestation was probably triggered by COVID-19. The patient’s vision gradually progressively worsened. In 2.5 months after the clinical manifestation of NCM, fundoscopy revealed optic discs atrophy (despite the absence of previous edema), and repeated CSF analysis showed atypical cells with characteristics corresponding to melanoma. Malignant transformation of cerebral melanocytosis was suspected, and the patient was referred to an oncological dispensary for further therapy. In the presented literature review, special attention is paid to the issues of neuroimaging, cytological and immunocytochemical diagnostics of NCM.

Relative prevalence and outcome of fetal posterior fossa abnormality.

To find out the relative incidence and outcome of posterior fossa abnormality (PFA) in terms of survival at birth until 2 years of age. We conducted a prospective study; all fetuses diagnosed with posterior fossa abnormality were followed-up. The outcome was observed with respect to survival, the presence of associated anomalies, the existence of developmental delay after a telephonic interview. Out of 2703 children with congenital anomalies, 921 (34.1%) had a central nervous system defect;76 cases of PFA were fully followed. Dandy-Walker malformation (DWM) was present in 50% (38/76), mega cisterna magna 18.4% (14/76), Blake pouch cyst 13.2% (10/76), vermian hypoplasia (VH) 13.2% (10/76) and arachnoid cyst 5.2% (4/76). The diagnosis was possible before 20 weeks in only 12 (15.8%) cases.The mean gestational age at delivery was 34.7 ± 6.7 weeks. Associated anomalies were seen in 35/76 (46.1%) cases. A total of 35/76 (46.1%) survived after 2 years; there was developmental delay in 9.2% of cases. There is a large variation in the outcome of PFA depending upon the type of anomaly. Associated anomalies are common in VH and DWM, making their prognosis worse.

Prenatal diagnosis of vermian cyst: a new type of posterior fossa cyst.

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. To report a series of fetuses with a vermian cyst. 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. 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+1weeks, respectively. In all patients, the cyst was in the vermian horizontal fissure. The mean longest dimension was about 10mm. 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. 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.

Challenges in the pre- and post-natal diagnosis of posterior fossa cysts: A case report and review of historical evolution of descriptive terminologies.

Radiological diagnoses of posterior fossa cystic abnormalities during antenatal and postnatal periods pose significant challenges as they may have similar early imaging features. Some of the frequently described entities are arachnoid cysts and Dandy-Walker malformations. Blake's pouch cyst is relatively underdiagnosed. The main aim of the study was to explore these diagnostic challenges in the context of various descriptive terminologies and their prognostic implications. We illustrate this through our case, where fetal magnetic resonance imaging (MRI) at 36 weeks gestation showed small right cerebellum without hydrocephalus or hemorrhage. Possible differential diagnoses included Dandy-Walker malformation or posterior fossa malformations, facial hemangiomas, arterial anomalies, cardiac and eye anomalies, sternal clefting, and supraumbilical raphe. Postnatal sonography noted posterior fossa cyst without hydrocephalus in a normal term infant, who went on to develop symptomatic hydrocephalus by 15 weeks. Computed tomography brain scan confirmed large subtentorial posterior fossa cyst and extensive internal hydrocephalus. Despite emergent ventriculoperitoneal shunt insertion, head circumference continued to rise. MRI scan showed persistent cyst. Subsequently, infant underwent endoscopic fenestration of the cyst with balloon septostomy and now has an age appropriate developmental profile. There is considerable discordance between antenatal and postnatal neuroimaging findings as highlighted in our case. Diagnostic conundrum here was whether this was an arachnoid or Blake's pouch cyst. Differentiating between posterior fossa fluid collections is crucial for management, prognosis, and parental counseling. Close postnatal follow-up is essential to avert complications due to acute hydrocephalus.

Cystoperitoneal Shunting for Patient with Hydrocephalus Associated with Aqueductal Obstruction in Dandy-Walker Malformation: A Case Report

Dandy-Walker Malformation presents as a congenital anomaly that affects the posterior fossa. Presenting hydrocephalus as secondary to Dandy-Walker Malformation is the main concern and complication. The cyst formation in the posterior fossa obstructs the cerebrospinal flow that led to the hydrocephalus. Ideal management to treat Dandy-Walker malformation are varied. Shunting, cyst excision, and endoscopy third ventriculostomy are the proposed management. Case Report Presenting a case of a 1-month-age male baby who was diagnosed with vermis agenesis and posterior fossa enlargement by antenatal ultrasound. Later on, Magnetic Resonance Imaging revealed Dandy-Walker Malformation with hydrocephalus and aqueduct obstruction. Cystoperitoneal shunt was performed for this patient. Proximal shunt trajectory measured from Magnetic Resonance Imaging. As the goal of therapy is to achieve normal development, this patient needs long-term follow-up in collaboration with pediatric and physiotherapy. After 18 months of follow-up, he was able to crawl with routine and proper physiotherapy. Conclusion Hydrocephalus in Dandy-Walker Malformation patients related to aqueduct obstruction may be treated with a single Cystoperitoneal shunt. Aqueduct obstruction in these patients may be temporary due to high pressure on the posterior fossa that pushed the vermis forward. Cystoperitoneal shunt may reduce posterior fossa pressure and then deprive the pressure that obstructs aqueduct.

Dandy–Walker malformation and variants: clinical features and associated anomalies in 28 affected children—a single retrospective study and a review of the literature

ObjectiveTo investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy–Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature.MethodsA retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al.ResultsAssociated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId).ConclusionsChildren with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.

Severe coarctation of the aorta, developmental delay, and multiple dysmorphic features in a child with SMAD6 and SMARCA4 variants

Pathogenic variants in SMARCA4 cause Coffin-Siris syndrome (CSS) while those in SMAD6 lead to aortic valve disease and other dysmorphisms. We identified a 6-year-old Thai boy with features of CSS alongside unusual manifestations including, very severe coarctation of the aorta (CoA) requiring coarctectomy in the neonatal period and bilateral radioulnar synostoses. Trio exome sequencing revealed that the patient harbored two de novo variants, a missense c.2475G > T, p.(Trp825Cys) in SMARCA4 and a nonsense c.652C > T, p.(Gln218Ter) in SMAD6. Both of which have never been previously reported. The clinical presentations in our patient are a result of the combinational features of each genetic variant: the SMARCA4 p.(Trp825Cys) variant leads to facial features of Coffin Siris syndrome and Dandy-Walker malformation, while the SMAD6 p.(Gln218Ter) variant underlies radioulnar synostosis. Interestingly, the severity of CoA in the proband is beyond the phenotypic spectra of each genetic variant and may be a result of the synergistic effects of both variants. Here, we report a child with variants in SMARCA4 or SMAD6 with combined features of each plus a severe CoA, possibly due to an additive effect of each variant.

Severe cerebellar malformations in mutant mice demonstrate a role for PDGF-C/PDGFRα signalling in cerebellar development.

ABSTRACTFormation of the mouse cerebellum is initiated in the embryo and continues for a few weeks after birth. Double-mutant mice lacking platelet-derived growth factor C (PDGF-C) and that are heterozygous for platelet-derived growth factor receptor alpha (Pdgfc-/-; PdgfraGFP/+) develop cerebellar hypoplasia and malformation with loss of cerebellar lobes in the posterior vermis. This phenotype is similar to those observed in Foxc1 mutant mice and in a human neuroimaging pattern called Dandy Walker malformation. Pdgfc-Pdgfra mutant mice also display ependymal denudation in the fourth ventricle and gene expression changes in cerebellar meninges, which coincide with the first visible signs of cerebellar malformation. Here, we show that PDGF-C/PDGFRα signalling is a critical component in the network of molecular and cellular interactions that take place between the developing meninges and neural tissues, and which are required to build a fully functioning cerebellum.

Incidence, follow-up, and postnatal clinical progress of children with central nervous system anomalies on fetal MRI.

MRI is increasingly employed to assess intrauterine fetal anomalies. Central nervous system (CNS) anomalies are common structural conditions that warrant evaluation with fetal MRI and subsequent prenatal consultation with a pediatric neurosurgeon. As the use of fetal MRI increases, there is greater impetus to understand the most common CNS structural anomalies diagnosed in utero, as well as their natural histories. The authors performed a single-center retrospective review of fetal MRI evaluations performed between January 2012 and December 2020. Children who underwent both prenatal and postnatal neurosurgical evaluations of CNS anomalies were included. Specific CNS anomalies on fetal MRI, associated extra-CNS findings, and suspicion for genetic abnormality or syndromes were noted. Postnatal clinical status and interventions were assessed. Between January 2012 and December 2020, a total of 469 fetal MRI evaluations were performed; of these, 114 maternal-fetal pairs had CNS anomalies that warranted prenatal consultation and postnatal pediatric neurosurgical follow-up. This cohort included 67 male infants (59%), with a mean ± SD follow-up of 29.8 ± 25.0 months after birth. Fetal MRI was performed at 27.3 ± 5.8 weeks of gestational age. The most frequently reported CNS abnormalities were ventriculomegaly (57%), agenesis or thinning of the corpus callosum (33%), Dandy-Walker complex (DWC) (21%), neuronal migration disorders (18%), and abnormalities of the septum pellucidum (17%). Twenty-one children (18%) required neurosurgical intervention at a mean age of 2.4 ± 3.7 months. The most common surgical conditions included myelomeningocele, moderate to severe ventriculomegaly, encephalocele, and arachnoid cyst. Corpus callosum agenesis or thinning was associated with developmental delay (p = 0.02) and systemic anomalies (p = 0.05). The majority of prenatal patients referred for DWC had Dandy-Walker variants that did not require surgical intervention. The most common conditions for prenatal neurosurgical assessment were ventriculomegaly, corpus callosum anomaly, and DWC, whereas the most common surgical conditions were myelomeningocele, hydrocephalus, and arachnoid cyst. Only 18% of prenatal neurosurgical consultations resulted in surgical intervention during infancy. The majority of referrals for prenatal mild ventriculomegaly and DWC were not associated with developmental or surgical sequelae. Patients with corpus callosum abnormalities should be concurrently referred to a neurologist for developmental assessments.

RADIOLOGICAL EVALUATION OF A RARE CASE OF DANDY-WALKER MALFORMATION IN A 25 YEARS OLD MALE

Dandy-Walker Malformation (DWM) 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 headache, psychomotor retardation, ataxia, urinary incontinence and hydrocephalus. This is a case of 25 years male presented to general medicine opd in our institute with intermittent episodes of nausea, vomiting, seizures, ataxia for last few years which was further evaluated by CT and MRI of brain in Dept of Radiodiagnosis suggesting diagnosis of Dandy- Walker malformation. patient was referred to Dept of Neurology for exact management.

Four-dimensional ultrasound in the diagnosis of intrauterine central nervous system anomalies: four dimensional in CNS congenital anomalies

Background Central nervous system (CNS) anomalies are an important factor of neonatal deaths. Three-dimensional (3D)/4D ultrasound (US) has an advantage over the conventional 2D US as it provides additional multiple options like multiplanar view, tomographic view, and surface rendering view leading to accurate diagnosis of fetal congenital anomalies. Aim The aim of this study was to evaluate the role of the 4D US in the diagnosis of in utero congenital CNS anomalies. Patients and methods The current study was conducted on 30 pregnant women with suspected congenital CNS anomalies by 2D US in Tanta University Hospitals. All the patients were subjected to 2D and 4D US examination in cases with suspected anomalies by 2D US. Results Out of 30 anomalies, two (6.5%) anomalies were lobar holoprosencephaly; six (20%) anomalies were anencephaly, three (10%) anomalies were exencephaly, one (3.5%) anomaly was aqueductal stenosis, three (10%) anomalies were chiari malformation with its two types I and II, and three (10%) anomalies were Dandy–Walker. Three anomalies were hydranencephaly (10%), three (10%) meningocele, one (3.5%) spina bifida, and two cases were obstructive hydrocephalus distal to the 4th ventricle (obstruction of foramen of luschka and magendie) (6.5%). As regards brain anomalies, sensitivity of 4D US=96.4%, specificity of 4D US=100%, positive predictive value=100%, negative predictive value=50.0%, and accuracy=96%. So, 4D US is more superior to 2D US in demonstrating anomalies of the CNS (through multiplanar view and tomographic views), which may affect the postnatal outcome. 4D US offers precise demonstration of normal and abnormal fetal structures through its different modes, so it helps in accurate prenatal diagnosis of CNS anomalies. Conclusion 4D US is considered now an important diagnostic tool in fetal medicine as it provides many advanced diagnostic options such as multiplanar view or tomographic imaging, volume calculation, and surface rendering mode, which aided in early diagnosis of fetal anomalies and improved postnatal outcome.

A Term Neonate with Multiorgan Dysfunction, Severe Metabolic Acidosis, and Hyperkalemia.

A Term Neonate with Multiorgan Dysfunction, Severe Metabolic Acidosis, and Hyperkalemia.

Noonan Syndrome, Dandy-Walker variant and delayed puberty- a rare association

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Neurosurgical management of patients with neurocutaneous melanosis: a systematic review.

Neurocutaneous melanocytosis (NCM), also referred to as neurocutaneous melanosis, is a rare neurocutaneous disorder characterized by excess melanocytic proliferation in the skin, leptomeninges, and cranial parenchyma. NCM most often presents in pediatric patients within the first 2 years of life and is associated with high mortality due to proliferation of melanocytes in the brain. Prognosis is poor, as patients typically die within 3 years of symptom onset. Due to the rarity of NCM, there are no specific guidelines for management. The aims of this systematic review were to investigate approaches toward diagnosis and examine modern neurosurgical management of NCM. A systematic review was performed using the PubMed database between April and December 2021 to identify relevant articles using PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Search criteria were created and checked independently among the authors. Inclusion criteria specified unique studies and case reports of NCM patients in which relevant neurosurgical management was considered and/or applied. Exclusion criteria included studies that did not report associated neurological diagnoses and neuroimaging findings, clinical reports without novel observations, and those unavailable in the English language. All articles that met the study inclusion criteria were included and analyzed. A total of 26 extracted articles met inclusion criteria and were used for quantitative analysis, yielding a cumulative of 74 patients with NCM. These included 21 case reports, 1 case series, 2 retrospective cohort studies, 1 prospective cohort study, and 1 review. The mean patient age was 16.66 years (range 0.25-67 years), and most were male (76%). Seizures were the most frequently reported symptom (55%, 41/74 cases). Neurological diagnoses associated with NCM included epilepsy (45%, 33/74 cases), hydrocephalus (24%, 18/74 cases), Dandy-Walker malformation (24%, 18/74 cases), and primary CNS melanocytic tumors (23%, 17/74 cases). The most common surgical technique was CSF shunting (43%, 24/56 operations), with tethered cord release (4%, 2/56 operations) being the least frequently performed. Current management of NCM includes CSF shunting to reduce intracranial pressure, surgery, chemotherapy, radiotherapy, immunotherapy, and palliative care. Neurosurgical intervention can aid in the diagnosis of NCM through tissue biopsy and resection of lesions with surgical decompression. Further evidence is required to establish the clinical outcomes of this rare entity and to describe the diverse spectrum of intracranial and intraspinal abnormalities present.

Asymptomatic Dandy-Walker Variant in adulthood: A Case Report and Review of the Literature

Brain and body magnetic resonance imaging (MRI) is increasingly utilized for both clinical and commercial screenings, making it inevitable to detect incidental findings that are oftentimes unrelated to the purpose of the imaging. These cases pose a clinical challenge due to a lack of established protocols for their follow-up and management.