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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 -
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 -
Radiology Case Reports Mar 2022We present a unique case of a ten-month-old boy with a protruding left globe and vitreous haemorrhaging, and later being diagnosed as a case of a dandy-walker syndrome...
We present a unique case of a ten-month-old boy with a protruding left globe and vitreous haemorrhaging, and later being diagnosed as a case of a dandy-walker syndrome (DWS) with buphthalmos and vitreous haemorrhage. Treatment is depending on the symptoms reported, thus close monitoring and a multidisciplinary approach are essential. We would like to recommend that even if there are no cardinal symptoms of DWS, paediatric patients with ocular signs should have Dandy walker Malformation (DWM) considered as a differential diagnosis.
PubMed: 35024082
DOI: 10.1016/j.radcr.2021.12.027 -
International Journal of Surgery Case... Jan 2022Dandy-Walker syndrome is a rare congenital brain malformation characterized by cerebellar vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a...
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.
PubMed: 34953427
DOI: 10.1016/j.ijscr.2021.106702 -
International Journal of Applied &... 2021Dandy-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...
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 SpO 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.
PubMed: 34912695
DOI: 10.4103/ijabmr.ijabmr_343_21 -
Cold Spring Harbor Molecular Case... Dec 2021The methodologic approach used in next-generation sequencing (NGS) affords a high depth of coverage in genomic analysis. Inherent in the nature of genomic testing, there...
The methodologic approach used in next-generation sequencing (NGS) affords a high depth of coverage in genomic analysis. Inherent in the nature of genomic testing, there exists potential for identifying genomic findings that are incidental or secondary to the indication for clinical testing, with the frequency dependent on the breadth of analysis and the tissue sample under study. The interpretation and management of clinically meaningful incidental genomic findings is a pressing issue particularly in the pediatric population. Our study describes a 16-mo-old male who presented with profound global delays, brain abnormality, progressive microcephaly, and growth deficiency, as well as metopic craniosynostosis. Clinical exome sequencing (ES) trio analysis revealed the presence of two variants in the proband. The first was a de novo variant in the gene (c.773G > A, p.Arg258His), which is associated with autosomal dominant (AD) intellectual disability, accounting for the proband's clinical phenotype. The second was a recurrent hotspot variant in the gene (c.1111T > C, p.Tyr371His), which was present at a variant allele fraction of 11%, consistent with somatic variation in the peripheral blood sample. Germline pathogenic variants in are associated with AD Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia. Molecular analyses using a different tissue source, buccal epithelial cells, suggest that the alteration may represent a clonal population of cells restricted to leukocytes. This report highlights the laboratory methodologic and interpretative processes and clinical considerations in the setting of acquired variation detected during clinical ES in a pediatric patient.
Topics: Child; Genomics; High-Throughput Nucleotide Sequencing; Humans; Incidental Findings; Intellectual Disability; Male; Phenotype
PubMed: 34716204
DOI: 10.1101/mcs.a006135 -
Archivos Argentinos de Pediatria Oct 2021Hydrocephalus 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...
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.
Topics: Brain; Dandy-Walker Syndrome; Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Male; Pregnancy; Prognosis; Vena Cava, Superior
PubMed: 34569756
DOI: 10.5546/aap.2021.e526 -
BMC Pediatrics Sep 2021Methylmalonic acidemia is an organic acid metabolism disorder that usually has nonspecific clinical manifestations.
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.
Topics: Amino Acid Metabolism, Inborn Errors; Brain; Dandy-Walker Syndrome; Female; Humans; Infant; Magnetic Resonance Imaging; Pregnancy
PubMed: 34511063
DOI: 10.1186/s12887-021-02874-y