-
JAAPA : Official Journal of the... Jan 2021Dandy-Walker malformation is a rare congenital anomaly affecting the posterior fossa, occurring in one in 30,000 births. Its hallmark characteristics include hypoplasia...
Dandy-Walker malformation is a rare congenital anomaly affecting the posterior fossa, occurring in one in 30,000 births. Its hallmark characteristics include hypoplasia of the vermis, dilation of the fourth ventricle, and an enlarged posterior fossa. This case study describes a finding of Dandy-Walker malformation during a workup of encephalopathy in a patient on veno-venous extracorporeal membrane oxygenation for acute respiratory distress syndrome.
Topics: Adult; Brain Diseases; Dandy-Walker Syndrome; Endoscopy; Extracorporeal Membrane Oxygenation; Female; Humans; Incidental Findings; Magnetic Resonance Imaging; Respiratory Distress Syndrome; Tomography, X-Ray Computed; Ventriculoperitoneal Shunt; Ventriculostomy
PubMed: 33332830
DOI: 10.1097/01.JAA.0000723916.22400.8f -
Case Reports in Orthopedics 2020Dandy-Walker syndrome (DWS) affects the posterior cranial fossa resulting in characteristic dysmorphic facial and body features. Scoliosis is not typically reported as...
Dandy-Walker syndrome (DWS) affects the posterior cranial fossa resulting in characteristic dysmorphic facial and body features. Scoliosis is not typically reported as an extracranial manifestation of this condition. We present a 12-year-old female patient who developed a right thoracic scoliosis measuring 60° with increased lumbar lordosis. Scoliosis correction was indicated to alleviate back pain, improve cosmesis, and prevent respiratory complications. A multidisciplinary preoperative assessment included cardiac, respiratory, anaesthetic, and neurology reviews. She underwent a posterior spinal fusion from T2 to L3 with pedicle hook/screw and rod instrumentation and a combination of locally harvested autologous and allograft bone. This resulted in excellent deformity correction and a balanced spine in the coronal and sagittal planes. The patient made an uneventful recovery and returned gradually to her normal level of activities. She was monitored in clinic until she completed her growth (4 years after surgery); the satisfactory surgical outcome was maintained at follow-up and was associated with high patient satisfaction. Scoliosis can occur in children with DWS with resemblance to adolescent idiopathic scoliosis in regard to type of coronal deformity, age at presentation, surgical techniques, and postoperative recovery. Early identification of scoliosis in patients with DWS can allow preoperative planning and prompt surgical management in order to reduce the risk of significant morbidity which can occur if the scoliosis is allowed to deteriorate. Excellent deformity correction can be achieved and maintained beyond skeletal maturity in order to improve physical appearance, as well as preserve level of function and quality of life.
PubMed: 32879746
DOI: 10.1155/2020/8874819 -
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 -
Journal of Neurosurgery. Pediatrics Apr 2021Treating Dandy-Walker syndrome-related hydrocephalus (DWSH) involves either a CSF shunt-based or endoscopic third ventriculostomy (ETV)-based procedure. However,...
OBJECTIVE
Treating Dandy-Walker syndrome-related hydrocephalus (DWSH) involves either a CSF shunt-based or endoscopic third ventriculostomy (ETV)-based procedure. However, comparative investigations are lacking. This study aimed to compare shunt-based and ETV-based treatment strategies utilizing archival data from the Hydrocephalus Clinical Research Network (HCRN) registry.
METHODS
A retrospective review of prospectively collected and maintained data on children with DWSH, available from the HCRN registry (14 sites, 2008-2018), was performed. The primary outcome was revision-free survival of the initial surgical intervention. The primary exposure was either shunt-based (i.e., cystoperitoneal shunt [CPS], ventriculoperitoneal shunt [VPS], and/or dual-compartment) or ETV-based (i.e., ETV alone or with choroid plexus cauterization [CPC]) initial surgical treatment. Primary analysis included multivariable Cox proportional hazards models.
RESULTS
Of 8400 HCRN patients, 151 (1.8%) had DWSH. Among these, the 102 patients who underwent shunt placement (79 VPSs, 16 CPSs, 3 other, and 4 multiple proximal catheter) were younger (6.6 vs 18.8 months, p < 0.001) and more frequently had 1 or more comorbidities (37.3% vs 14.3%, p = 0.005) than the 49 ETV-treated children (28 ETV-CPC). Fifty percent of the shunt-based and 51% of the ETV-based treatments failed. Notably, 100% (4/4) of the dual-compartment shunts failed. Adjusting for age, baseline ventricular size, and comorbidities, ETV-based treatment was not significantly associated with earlier failure compared with shunt-based treatment (HR for failure 1.32, 95% CI 0.77-2.26; p = 0.321). Complication rates were low: 4.9% and 6.1% (p = 0.715) for shunt- and ETV-based procedures, respectively. There was no difference in survival between ETV-CPC- and ETV-based treatment when adjusting for age (HR for failure 0.86, 95% CI 0.29-2.55, p = 0.783).
CONCLUSIONS
In this North American, multicenter, prospective database review, shunt-based and ETV-based primary treatment strategies of DWSH appear similarly durable. Pediatric neurosurgeons can reasonably consider ETV-based initial treatment given the similar durability and the low complication rate. However, given the observational nature of this study, the treating surgeon might need to consider subgroups that were too small for a separate analysis. Very young children with comorbidities were more commonly treated with shunts, and older children with fewer comorbidities were offered ETV-based treatment. Future studies may determine preoperative characteristics associated with ETV treatment success in this population.
PubMed: 33930865
DOI: 10.3171/2020.11.PEDS20806 -
Pediatric Radiology Jul 2021Dandy-Walker malformation and Blake pouch cysts can have overlapping imaging features. The choroid plexus and associated taenia-tela choroidea complex are displaced...
BACKGROUND
Dandy-Walker malformation and Blake pouch cysts can have overlapping imaging features. The choroid plexus and associated taenia-tela choroidea complex are displaced inferolaterally in Dandy-Walker malformation and below the vermis in Blake pouch cysts.
OBJECTIVE
To determine the normal fetal and postnatal MR appearance of the choroid plexus and taenia-tela choroidea complex, and whether their location can help distinguish Dandy-Walker malformation from Blake pouch cysts.
MATERIALS AND METHODS
In this retrospective study, we evaluated brain MR exams from normal-appearing fetuses (gestational age 19-38 weeks) and infants, fetal and postnatal exams in Blake pouch cysts and Dandy-Walker malformation, and ambiguous cases equivocal for mild Dandy-Walker malformation and Blake pouch cysts. We documented choroid plexus and the taenia-tela choroidea complex location and axial and sagittal angles in each case. Then we contrasted and compared the original and updated fetal diagnoses based on taenia-tela choroidea complex and choroid plexus positions.
RESULTS
The choroid plexus location and the taenia-tela choroidea complex location and angles varied significantly among normal exams, Blake pouch cyst exams and Dandy-Walker malformation exams (P<0.01). Dandy-Walker malformation showed inferolateral displacement of the taenia-tela choroidea complex and choroid plexus distant from the vermis. Adding the taenia-tela choroidea complex and choroid plexus into the assessment improved diagnostic accuracy, especially in ambiguous cases.
CONCLUSION
The location of the taenia-tela choroidea complex and choroid plexus provided additional diagnostic neuroimaging clues that could be used in conjunction with other conventional findings to distinguish Dandy-Walker malformation and Blake pouch cysts. Normal, Blake pouch cyst, and Dandy-Walker malformation cases differed with regard to taenia-tela choroidea complex and choroid plexus position. Inferolateral taenia-tela choroidea complex displacement distant from the vermian margin was characteristic of Dandy-Walker malformation.
Topics: Animals; Choroid Plexus; Cranial Fossa, Posterior; Cysts; Dandy-Walker Syndrome; Female; Humans; Infant; Magnetic Resonance Imaging; Retrospective Studies; Taenia
PubMed: 33783580
DOI: 10.1007/s00247-021-04991-3 -
Neuroradiology Jun 2023Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during... (Review)
Review
Congenital melanocytic naevus (CMN) syndrome, previously termed neurocutaneous melanosis, is a rare disease caused by postzygotic mosaic mutations occurring during embryogenesis in precursors of melanocytes. The severity of neurological manifestations in CMN patients is related to central nervous system abnormalities found at magnetic resonance imaging. The association between CMN and Dandy-Walker malformation (DWM) has been described in the literature, but recent advances in imaging and genetics lead to diagnostic criteria revision. In this paper, we aim to re-evaluate the proposed association by reviewing the available literature and present a patient with CMN and a large posterior fossa cyst.
Topics: Humans; Dandy-Walker Syndrome; Nevus, Pigmented; Melanosis; Neurocutaneous Syndromes; Magnetic Resonance Imaging
PubMed: 37093228
DOI: 10.1007/s00234-023-03150-9 -
Retina (Philadelphia, Pa.) Sep 2020
Topics: Dandy-Walker Syndrome; Female; Fluorescein Angiography; Humans; Macula Lutea; Multimodal Imaging; Optical Imaging; Retinal Diseases; Retinal Pigment Epithelium; Tomography, Optical Coherence; Visual Acuity; Young Adult
PubMed: 32658163
DOI: 10.1097/IAE.0000000000002887 -
Journal of Human Genetics Jun 2022Müllerian anomaly (M.A.) is a group of congenital anatomic abnormalities caused by aberrations of the development process of the Müllerian duct. M.A. can either be...
Müllerian anomaly (M.A.) is a group of congenital anatomic abnormalities caused by aberrations of the development process of the Müllerian duct. M.A. can either be isolated or be involved in Mendelian syndromes, such as Dandy-Walker syndrome, Holt-Oram syndrome and Bardet-Biedl syndrome, which are often associated with both uterus and kidney malformations. In this study, we applied a genotype-first approach to analyze the whole-exome sequencing data of 492 patients with M.A. Six potential pathogenic variants were found in five genes previously related to female urogenital deformities (PKD1, SON, SALL1, BMPR1B, ITGA8), which are partially overlapping with our patients' phenotypes. We further identified eight incidental findings in seven genes related to Mendelian syndromes without known association with reproductive anomalies (TEK, COL11A1, ANKRD11, LEMD3, DLG5, SPTB, BMP2), which represent potential phenotype expansions of these genes.
Topics: Abnormalities, Multiple; Female; Genotype; Humans; Lower Extremity Deformities, Congenital; Mullerian Ducts; Upper Extremity Deformities, Congenital
PubMed: 35022528
DOI: 10.1038/s10038-021-00996-w -
ENeurologicalSci Dec 2023The correlation between Down syndrome and Dandy-Walker syndrome is an exceptionally uncommon occurrence. To date, only four cases have been documented. All previously...
The correlation between Down syndrome and Dandy-Walker syndrome is an exceptionally uncommon occurrence. To date, only four cases have been documented. All previously reported cases involved individuals under the age of 37 months, with prenatal or birth diagnoses. Additionally, most of these cases displayed a limited life expectancy and experienced poor developmental outcomes. In this report, we present the first-ever instance of an 11-year-old male patient, previously undiagnosed with Dandy-Walker syndrome, who presented with acute intracranial hypertension. Magnetic Resonance Imaging revealed an active hydrocephalus caused by a Dandy-Walker malformation. The patient's condition was effectively managed through the implementation of a ventriculo-cysto-peritoneal shunt. This case highlights the coexistence of Dandy-Walker syndrome and Down syndrome in an asymptomatic young patient. Furthermore, it demonstrates that active hydrocephalus in such cases can be successfully addressed through either endoscopic third ventriculostomy or ventriculo-cysto-peritoneal shunt procedures.
PubMed: 37928178
DOI: 10.1016/j.ensci.2023.100480 -
Biology Open Aug 2023G9a, also known as EHMT2, is essential for embryogenesis and has specific functions in multiple developmental processes. G9a inactivation affects development of the...
G9a, also known as EHMT2, is essential for embryogenesis and has specific functions in multiple developmental processes. G9a inactivation affects development of the nervous system, which is formed with contribution of descendants of progenitor cells expressing the transcription factor Isl1. However, the function of G9a in Isl1-expressing progenitors is unknown. Here, we show that G9a is required for proper development of multiple structures formed with contribution of Isl1-expressing progenitors. A Cre-dependent GFP reporter revealed that the recombinase activity of the Isl1-Cre used in this study to inactivate G9a was reduced to a subset of Isl1-expressing progenitor cells. G9a mutants reached endpoint by 7 weeks of age with cardiac hypertrophy, hydrocephalus, underdeveloped cerebellum and hind limb paralysis, modeling aspects of Dandy-Walker complex. Moreover, neuroepithelium of the lateral ventricle derived from Isl1-expressing progenitors was thinner and disorganized, potentially compromising cerebrospinal fluid dynamics in G9a mutants. Micro-computed tomography after iodine staining revealed increased volume of the heart, eye lens and brain structures in G9a mutant fetuses. Thus, altered development of descendants of the second heart field and the neural crest could contribute to multicomponent malformation like Dandy-Walker.
Topics: Dandy-Walker Syndrome; Histocompatibility Antigens; Histone-Lysine N-Methyltransferase; Integrases; Stem Cells; X-Ray Microtomography; Animals
PubMed: 37470706
DOI: 10.1242/bio.059894