-
Scientific Reports Apr 2024The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC),...
The primary aim of this study was to estimate the incidence of posterior fossa anomalies (PFA) and assess the associated outcomes in King Abdulaziz Medical City (KAMC), Riyadh. All fetuses diagnosed by prenatal ultrasound with PFA from 2017 to 2021 in KAMC were analyzed retrospectively. PFA included Dandy-Walker malformation (DWM), mega cisterna magna (MCM), Blake's pouch cyst (BPC), and isolated vermian hypoplasia (VH). The 65 cases of PFA were 41.5% DWM, 46.2% MCM, 10.8% VH, and 1.5% BPC. The annual incidence rates were 2.48, 2.64, 4.41, 8.75, and 1.71 per 1000 anatomy scans for 2017, 2018, 2019, 2020, and 2021, respectively. Infants with DWM appeared to have a higher proportion of associated central nervous system (CNS) abnormalities (70.4% vs. 39.5%; p-value = 0.014) and seizures than others (45% vs. 17.9%; p-value = 0.041). Ten patients with abnormal genetic testing showed a single gene mutation causing CNS abnormalities, including a pathogenic variant in MPL, C5orf42, ISPD, PDHA1, PNPLA8, JAM3, COL18A1, and a variant of uncertain significance in the PNPLA8 gene. Our result showed that the most common PFA is DWM and MCM. The autosomal recessive pathogenic mutation is the major cause of genetic disease in Saudi patients diagnosed with PFA.
Topics: Pregnancy; Female; Infant, Newborn; Humans; Retrospective Studies; Dandy-Walker Syndrome; Prenatal Diagnosis; Fetus; Nervous System Malformations; Ultrasonography, Prenatal; Magnetic Resonance Imaging
PubMed: 38600369
DOI: 10.1038/s41598-024-59163-8 -
Clinical Radiology May 2024The prominent retrocerebellar cerebrospinal fluid (CSF) space can be frequently encountered on paediatric neuroimaging studies. In cases involving abnormal vermian... (Review)
Review
The prominent retrocerebellar cerebrospinal fluid (CSF) space can be frequently encountered on paediatric neuroimaging studies. In cases involving abnormal vermian development where imaging does not align with the established criteria of Dandy-Walker malformation (DWM), the term "Dandy-Walker variant or continuum" has been historically employed to describe the aberrant posterior fossa development. Instead, the emphasis is on a more elaborate description of the findings in the posterior fossa. Moreover, combining the findings in the supratentorial brain can occasionally predict certain neurogenetic disorders that mimic Dandy-Walker phenotype. The present review demonstrates and differentiates the imaging features of various entities that result in an enlarged retrocerebellar CSF space, such as inferior vermian hypoplasia (IVH) and several neurogenetic conditions.
Topics: Humans; Child; Dandy-Walker Syndrome; Magnetic Resonance Imaging; Neuroimaging; Head
PubMed: 38429135
DOI: 10.1016/j.crad.2024.01.025 -
JNMA; Journal of the Nepal Medical... Feb 2024Dandy-Walker syndrome is a rare congenital central nervous system malformation. Dandy-Walker variant is characterised by cerebellar vermian hypoplasia, cystic fourth...
UNLABELLED
Dandy-Walker syndrome is a rare congenital central nervous system malformation. Dandy-Walker variant is characterised by cerebellar vermian hypoplasia, cystic fourth ventricular dilatation, and normal posterior fossa volume. Various prenatal tests such as ultrasound, fetal magnetic resonance imaging, and amniocentesis can help diagnose Dandy-Walker syndrome. Here, we report a case of the Dandy-Walker variant with meningitis in a neonate admitted to the neonatal intensive care unit due to multiple petechiae on the anterior abdominal wall, accompanied by peripheral cyanosis at the time of birth. Although maximum cases are diagnosed prenatally, some cases might be missed due to inadequate antenatal examination. Magnetic imaging resonance of the brain is best for the diagnosis of Dandy-Walker syndrome postnatally.
KEYWORDS
case reports; Dandy-Walker malformation, magnetic resonance imaging, meningitis.
Topics: Infant, Newborn; Humans; Female; Pregnancy; Dandy-Walker Syndrome; Brain; Magnetic Resonance Imaging; Meningitis
PubMed: 38409968
DOI: 10.31729/jnma.8472 -
Gynecologie, Obstetrique, Fertilite &... Apr 2024Maternal deaths from indirect obstetric cause result from a preexisting condition or a condition that occurred during pregnancy without obstetric causes but was...
Maternal deaths from indirect obstetric cause result from a preexisting condition or a condition that occurred during pregnancy without obstetric causes but was aggravated by the physiological effects of pregnancy. Twenty-nine deaths with an indirect cause related to a preexisting condition, excluding circulatory diseases or infections, were analysed by the expert committee. Pre-pregnancy pathology was documented in 16 women (epilepsy, n=7; amyloid angiopathy, n=1; Dandy-Walker syndrome, n=1; autoimmune diseases, n=3; diffuse infiltrative pneumonitis, n=1; thrombotic thrombocytopenic purpura, n=1; ovarian cancer in fragile X, n=1; major sickle cell disease, n=1). In 13 women, the pathology was unknown before pregnancy (breast cancer, n=9, epilepsy diagnosed during pregnancy, n=1, brain tumours, n=2 meningioma type, macrophagic activation syndrome, n=1). Death was associated with neoplastic or tumour pathology in 13 women (45%). At the same time, epilepsy was responsible for the death of 8 women (27%), making it the most common cause of death. For both neoplasia and epilepsy, about 50% of deaths were preventable, mainly due to undiagnosed and/or delayed treatment in the case of cancer and failure to monitor or adjust treatment in the case of epilepsy. Pre-conception counselling is therefore strongly recommended if a woman has a known chronic medical condition prior to pregnancy. Finally, if there is a family history of breast cancer, a breast examination is strongly recommended from the first visit during pregnancy, and any breast lumps should be investigated as soon as possible to avoid delaying appropriate treatment.
Topics: Pregnancy; Female; Humans; Maternal Death; Cardiovascular Diseases; Maternal Mortality; Stroke; France; Epilepsy; Breast Neoplasms
PubMed: 38373491
DOI: 10.1016/j.gofs.2024.02.013 -
Cureus Jan 2024Dandy-Walker malformation or syndrome is a rare congenital deformity in which the cerebellar vermis is hypoplastic and upwardly rotated, the fourth ventricle enlarged,...
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.
PubMed: 38264175
DOI: 10.7759/cureus.52802 -
Cureus Dec 2023Dandy-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...
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.
PubMed: 38196410
DOI: 10.7759/cureus.50262 -
BMC Pregnancy and Childbirth Jan 2024The 15q11.2 BP1-BP2 microdeletion is associated with neurodevelopmental diseases. However, most studies on this microdeletion have focused on adults and children. Thus,...
Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.
OBJECTIVES
The 15q11.2 BP1-BP2 microdeletion is associated with neurodevelopmental diseases. However, most studies on this microdeletion have focused on adults and children. Thus, in this study, we summarized the molecular characteristics of fetuses with the 15q11.2 BP1-BP2 microdeletion and their postnatal follow-up to guide prenatal diagnosis.
METHODS
Ten thousand fetuses were retrospectively subjected to karyotype analysis and chromosome microarray analysis.
RESULTS
Chromosome microarray analysis revealed that 37 (0.4%) of the 10,000 fetuses had 15q11.2 BP1-BP2 microdeletions. The fragment size of the 15q11.2 BP1-BP2 region was approximately 312-855 kb and encompassed TUBGCP5, CYFIP1, NIPA2, and NIPA1 genes. Twenty-five of the 37 fetuses with this microdeletion showed phenotypic abnormalities. The most common ultrasonic structural abnormality was congenital heart disease, followed by renal dysplasia and Dandy-Walker malformation. The 15q11.2 BP1-BP2 microdeletion was inherited from the father and mother in 6 and 10 cases, respectively, and de novo inherited in 4 cases. In the postnatal follow-up, 16.1% of the children had postnatal abnormalities.
CONCLUSION
Fetuses with the 15q11.2 BP1-BP2 microdeletion showed high proportions of phenotypic abnormalities, but the specificity of penetrance was low. Thus, fetuses with this syndrome are potentially at a higher risk of postnatal growth/behavioral problems and require continuous monitoring of growth and development.
Topics: Adult; Child; Pregnancy; Female; Humans; Retrospective Studies; Follow-Up Studies; Chromosome Disorders; Intellectual Disability
PubMed: 38172840
DOI: 10.1186/s12884-023-06223-y -
Indian Journal of Dermatology 2023
PubMed: 38099133
DOI: 10.4103/ijd.ijd_10_23 -
ENeurologicalSci Dec 2023Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects;...
BACKGROUND
Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects; however, association with a giant occipital meningocele is extremely rare, as only around 34 cases have been described.
CASE DESCRIPTION
We report a case of a 2-month-old female infant who presented with a midline, gigantic mass in the back of the head. It was first discovered on a prenatal ultrasound. The mass measured about 15 × 5 cm, extending to the midback, not changing in size with crying, not attached to the back, and with a positive transillumination test. The diagnosis was confirmed after doing a brain computed tomography, which revealed hypoplasia of the vermis with an enlarged posterior fossa as well as cystic dilation of both ventricles with herniation through a bone defect.
CONCLUSION
Our case highlights a rare association between giant occipital meningocele and Dandy-Walker syndrome that is rarely discussed or reported in the medical literature. By reporting this extremely rare case of Dandy-Walker syndrome associated with a giant occipital meningocele, we hope to contribute to the creation of a database for future research so that a management protocol can be established for use by clinicians and neurosurgeons for better management of the condition.
PubMed: 38053652
DOI: 10.1016/j.ensci.2023.100486