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Journal of Clinical Ultrasound : JCU Nov 2022Antenatal posterior fossa cystic lesions are intimidating due to overlapping imaging features of benign and severe malformations. Sonographic assessment of the posterior...
Antenatal posterior fossa cystic lesions are intimidating due to overlapping imaging features of benign and severe malformations. Sonographic assessment of the posterior fossa with good resolution median sagittal and axial views, either primary or secondarily reconstructed, plays the lead role in antenatal evaluation, further enhanced when sequential assessments are added. We present 10 cases of fetal posterior fossa cystic lesions diagnosed in the first and second trimesters that were sequentially analyzed and followed up till delivery or termination. The ultrasound imaging appearance, evolution, and morphometry have been presented in this article.
Topics: Humans; Female; Pregnancy; Dandy-Walker Syndrome; Cranial Fossa, Posterior; Pregnancy Trimester, Second; Fetus; Cysts; Magnetic Resonance Imaging
PubMed: 35730722
DOI: 10.1002/jcu.23261 -
Child's Nervous System : ChNS :... Sep 2022Occipital encephalocele is a brain malformation that has been remotely associated with Dandy-Walker; only case reports and very small series have been published so far;... (Review)
Review
INTRODUCTION
Occipital encephalocele is a brain malformation that has been remotely associated with Dandy-Walker; only case reports and very small series have been published so far; therefore, their behavior and management are still under investigation. The goal of the present case-based review is to provide a summary of the state of the art in this association.
METHODS AND RESULTS
The pertinent literature has been reviewed, and an exemplary case has been reported (an 11-month-old female with Dandy-Walker malformation and occipital encephalocele). So far, 33 cases have been described, with a mean age at surgery of 5, 1 day). The majority of the cases tend to present with hydrocephalus. There are no specific surgery approaches or global consensus about this association. The management possibly relies on surgery with shunt or encephalocele excision but without a dedicated protocol yet.
CONCLUSIONS
The clinical research on occipital encephalocele in association with Dandy-Walker malformation is just at the beginning. New targets and wide-ranging clinical trials are needed to get an optimal management protocol.
Topics: Dandy-Walker Syndrome; Encephalocele; Female; Humans; Hydrocephalus; Infant
PubMed: 35588332
DOI: 10.1007/s00381-022-05551-2 -
Neurogenetics Jul 2022Adaptor-related protein complex 1 subunit sigma 2 (AP1S2) is a subunit of AP1 that is crucial for the reformation of the synaptic vesicle. Variants in AP1S2 have been...
Adaptor-related protein complex 1 subunit sigma 2 (AP1S2) is a subunit of AP1 that is crucial for the reformation of the synaptic vesicle. Variants in AP1S2 have been reported to cause a rare neurodevelopmental disorder, Pettigrew syndrome (PGS) (OMIM: 304,340), which is characterized by walking delay, abnormal speech, mild to profound X-linked intellectual disability (XLID), and abnormal brain, and behaviors. Here, we describe a 2-year- and 5-month-old male patient who presented with global developmental delay (GDD). Trio whole exome sequencing (WES) revealed a 5 bp duplicate in the AP1S2 gene (NM_003916.5: exon 2: c.96_100dup, p. Leu34Glnfs*8) predicted to cause early termination of translation, which was inherited from the unaffected mother. The clinical features of our patient were consistent with previous reports. This is the second case in the Chinese family and the eleventh variant found in AP1S2-related XLID. Our findings expand the AP1S2 variant spectrum in neurodevelopmental disorders and provide evidence for the application of WES in PGS diagnosis.
Topics: Adaptor Protein Complex sigma Subunits; Basal Ganglia Diseases; Dandy-Walker Syndrome; Genes, X-Linked; Humans; Intellectual Disability; Male; Mental Retardation, X-Linked; Pedigree; Seizures
PubMed: 35391588
DOI: 10.1007/s10048-022-00691-8 -
Neurology India 2022
Topics: Dandy-Walker Syndrome; Humans; Trigeminal Neuralgia
PubMed: 35263948
DOI: 10.4103/0028-3886.338662 -
International Medical Case Reports... 2022Dandy-Walker syndrome (DWS) is a rare congenital malformation characterized by hypoplasia of the cerebellar vermis and its upward rotation and cystic enlargement of the...
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.
PubMed: 35210871
DOI: 10.2147/IMCRJ.S350858 -
PloS One 2022Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of...
Dandy-Walker malformation (DWM) is a common prenatally diagnosed cerebellar malformation, characterized by cystic dilatation of the fourth ventricle, upward rotation of the hypoplastic vermis, and posterior fossa enlargement with torcular elevation. DWM is associated with a broad spectrum of neurodevelopmental abnormalities such as cognitive, motor, and behavioral impairments, which cannot be explained solely by cerebellar malformations. Notably, the pathogenesis of these symptoms remains poorly understood. This study investigated whether fetal structural developmental abnormalities in DWM extended beyond the posterior fossa to the cerebrum even in fetuses without apparent cerebral anomalies. Post-acquisition volumetric fetal magnetic resonance imaging (MRI) analysis was performed in 12 fetuses with DWM and 14 control fetuses. Growth trajectories of the volumes of the cortical plate, subcortical parenchyma, cerebellar hemispheres, and vermis between 18 and 33 weeks of gestation were compared. The median (interquartile range) gestational ages at the time of MRI were 22.4 (19.4-24.0) and 23.9 (20.6-29.2) weeks in the DWM and control groups, respectively (p = 0.269). Eight of the 12 fetuses with DWM presented with associated cerebral anomalies, including hydrocephalus (n = 3), cerebral ventriculomegaly (n = 3), and complete (n = 2) and partial (n = 2) agenesis of the corpus callosum (ACC); 7 presented with extracerebral abnormalities. Chromosomal abnormalities were detected by microarray analysis in 4 of 11 fetuses with DWM, using amniocentesis. Volumetric analysis revealed that the cortical plate was significantly larger in fetuses with DWM than in controls (p = 0.040). Even without ACC, the subcortical parenchyma, whole cerebrum, cerebellar hemispheres, and whole brain were significantly larger in fetuses with DWM (n = 8) than in controls (p = 0.004, 0.025, 0.033, and 0.026, respectively). In conclusion, volumetric fetal MRI analysis demonstrated that the development of DWM extends throughout the brain during the fetal period, even without apparent cerebral anomalies.
Topics: Brain; Dandy-Walker Syndrome; Embryonic Development; Female; Fetus; Gestational Age; Humans; Hydrocephalus; Magnetic Resonance Imaging; Neuroimaging; Pregnancy; Prenatal Care; Prenatal Diagnosis; Ultrasonography, Prenatal
PubMed: 35202430
DOI: 10.1371/journal.pone.0263535 -
JPMA. the Journal of the Pakistan... Dec 2021To assess the effectiveness of MRI in identifying the spectrum of corpus callosum anomalies in epileptic paediatric patients, a descriptive case series was studied in...
To assess the effectiveness of MRI in identifying the spectrum of corpus callosum anomalies in epileptic paediatric patients, a descriptive case series was studied in the General Paediatric Hospital, Baghdad from March 2017 to March 2020.A total of 52 patients with ages ranging from 4 months to 14 years were included. The Imaging criteria included MRI evaluation showing spectrum of anomalies involving the corpus callosum with malformation of cortical development, lipoma, Dandy Walker syndrome and Chiari malformation. Demographic data was recorded. The study included 52 patients with ages ranging from 4 months to 14 years, (mean age 5.94 ± 4.08 years). There were 31(59.7 %) males and 21(40.3%) females diagnosed as 34(65%) agenesis, 25(48%) partial agenesis, 9(17.3%) complete agenesis and 18(34.7%) hypoplasia of corpus callosum. Other malformations noted in 32 patients included, Chiari malformation, cortical neuromigration disorders, Dandy Walker malformation, lipoma, cerebellar hypoplasia, posterior fossa arachnoid cyst and Chiari 2 malformation. Imaging evaluation in epilepsies, effectively detects callosal disorders and associated malformations, which add valuable data improving clinical management, seizure control clinical management and further decision-making.
Topics: Cerebellum; Child; Child, Preschool; Corpus Callosum; Dandy-Walker Syndrome; Epilepsy; Female; Humans; Infant; Magnetic Resonance Imaging; Male
PubMed: 35130247
DOI: No ID Found -
Neurology India 2021Hydrocephalus is a neurological disorder with an incidence of 80-125 per 100,000 live births in the United States. The molecular pathogenesis of this multidimensional... (Review)
Review
Hydrocephalus is a neurological disorder with an incidence of 80-125 per 100,000 live births in the United States. The molecular pathogenesis of this multidimensional disorder is complex and has both genetic and environmental influences. This review aims to discuss the genetic and molecular alterations described in human hydrocephalus, from well-characterized, heritable forms of hydrocephalus (e.g., X-linked hydrocephalus from L1CAM variants) to those affecting cilia motility and other complex pathologies such as neural tube defects and Dandy-Walker syndrome. Ventricular zone disruption is one key pattern among congenital and acquired forms of hydrocephalus, with abnormalities in cadherins, which mediate neuroepithelium/ependymal cell junctions and contribute to the pathogenesis and severity of the disease. Given the relationship between hydrocephalus pathogenesis and neurodevelopment, future research should elucidate the genetic and molecular mechanisms that regulate ventricular zone integrity and stem cell biology.
Topics: Cerebral Aqueduct; Genetic Diseases, X-Linked; Humans; Hydrocephalus; Neural Tube Defects
PubMed: 35102976
DOI: 10.4103/0028-3886.332249 -
Asian Journal of Neurosurgery 2021This report describes a very rare Dandy-Walker malformation (DWM) associated with neurofibromatosis (NF) and bony defect over torcula emphasizing the role of meticulous...
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.
PubMed: 35071091
DOI: 10.4103/ajns.AJNS_468_20 -
Prenatal Diagnosis Apr 2022To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis.
OBJECTIVE
To investigate prenatal manifestations of Emanuel syndrome (ES) by retrospectively analyzing the results of prenatal diagnosis.
METHODS
Thirteen fetuses were collected from five hospitals, of which six were confirmed with 47,der(22)t(11;22; ES) by karyotype and chromosomal microarray analysis (CMA). Seven were diagnosed with 46,t(11;22) balanced translocations by karyotype, including one de novo mosaic 46,XX,t(11;22). In 3/7, CMA was performed but did not identify chromosomal imbalances. The results of prenatal diagnoses were reviewed, including ultrasound examinations and genetic testing.
RESULTS
In ES fetuses, the derivative 22 was consistently inherited from the mother, while in the balanced translocation group, the t(11;22) chromosome was of paternal origin in 3/6 cases, All ES fetuses presented with multiple abnormalities by ultrasound examinations. Diaphragm hernia (3/6), Dandy-Walker complex (3/6), and kidney aplasia (3/6), were the most common ultrasound findings. Sonographic soft markers such as increased nuchal translucency, increased nuchal fold thickness appeared in 3 cases and all of these were associated with other anomalies. However, none of the ultrasound findings differentiated ES from other genetic syndromes during fetal period.
CONCLUSIONS
In this series, in fetuses with a der(22), the derivative chromosome was consistently of maternal origin. In contrast, 46,t(11;22) balanced translocations were of maternal or paternal origin. The results contribute to the literature regarding the fetal phenotype of ES. Due to the absence of specific features distinguishing ES from other genetic syndromes, confirming the diagnosis through invasive genetic testing is necessary.
Topics: Chromosome Disorders; Cleft Palate; Female; Fetus; Genetic Testing; Heart Defects, Congenital; Humans; Intellectual Disability; Muscle Hypotonia; Nuchal Translucency Measurement; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Translocation, Genetic; Ultrasonography, Prenatal
PubMed: 35043432
DOI: 10.1002/pd.6098