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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 -
The Neuroradiology Journal Jun 2015The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the... (Review)
Review
The classification of posterior fossa congenital anomalies has been a controversial topic. Advances in genetics and imaging have allowed a better understanding of the embryologic development of these abnormalities. A new classification schema correlates the embryologic, morphologic, and genetic bases of these anomalies in order to better distinguish and describe them. Although they provide a better understanding of the clinical aspects and genetics of these disorders, it is crucial for the radiologist to be able to diagnose the congenital posterior fossa anomalies based on their morphology, since neuroimaging is usually the initial step when these disorders are suspected. We divide the most common posterior fossa congenital anomalies into two groups: 1) hindbrain malformations, including diseases with cerebellar or vermian agenesis, aplasia or hypoplasia and cystic posterior fossa anomalies; and 2) cranial vault malformations. In addition, we will review the embryologic development of the posterior fossa and, from the perspective of embryonic development, will describe the imaging appearance of congenital posterior fossa anomalies. Knowledge of the developmental bases of these malformations facilitates detection of the morphological changes identified on imaging, allowing accurate differentiation and diagnosis of congenital posterior fossa anomalies.
Topics: Abnormalities, Multiple; Arachnoid Cysts; Arnold-Chiari Malformation; Cerebellar Diseases; Cerebellum; Cranial Fossa, Posterior; Dandy-Walker Syndrome; Eye Abnormalities; Hamartoma Syndrome, Multiple; Humans; Kidney Diseases, Cystic; Mesencephalon; Retina; Rhombencephalon; Walker-Warburg Syndrome
PubMed: 26246090
DOI: 10.1177/1971400915576665 -
Romanian Journal of Morphology and... 2017Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or...
Dandy-Walker complex (DWC) is a malformative association of the central nervous system. DWC includes four different types: Dandy-Walker malformation (vermis agenesis or hypoplasia, cystic dilatation of the fourth ventricle and a large posterior fossa); Dandy-Walker variant (vermis hypoplasia, cystic dilatation of the fourth ventricle, normal posterior fossa); mega cysterna magna (large posterior fossa, normal vermis and fourth ventricle) and posterior fossa arachnoid cyst. We present and discuss four cases with different morphological and clinical forms of the Dandy-Walker complex. In all four cases, diagnosis was reached by incorporation of clinical (macrocephaly, seizures) and imaging [X-ray, computed tomography (CT), magnetic resonance imaging (MRI)] data. Two patients were diagnosed with Dandy-Walker complex, one patient was diagnosed with Dandy-Walker variant in a rare association with neurofibromatosis and one patient was diagnosed with a posterior fossa arachnoid cyst associated with left-sided Claude Bernard-Horner syndrome, congenital heart disease (coarctation of the aorta, mitral stenosis) and gastroesophageal reflux. In all forms of DWC, the clinical, radiological and functional manifestations are variable and require adequate diagnostic and therapeutic measures.
Topics: Child, Preschool; Dandy-Walker Syndrome; Female; Humans; Infant; Male
PubMed: 29250689
DOI: No ID Found -
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 -
Clinical Nephrology. Case Studies 2021Cerebral salt wasting (CSW) is an uncommon cause of hyponatremia characterized by extracellular volume depletion, high urine sodium concentration and osmolality, and low...
Cerebral salt wasting (CSW) is an uncommon cause of hyponatremia characterized by extracellular volume depletion, high urine sodium concentration and osmolality, and low serum uric acid concentration in association with central nervous system (CNS) disease. Distinguishing CSW from the syndrome of inappropriate secretion of antidiuretic hormone (SIADH), a much more common form of hyponatremia in this setting, can be challenging because both present with identical laboratory features. However, treatment of CSW and SIADH differs, making a correct diagnosis important. Here we present a case of CSW in a 75-year-old man in whom severe hyponatremia and volume depletion were discovered in the setting of traumatic head injury and Dandy-Walker malformation of the brain, a rare congenital brain malformation. Treatment with intravenous normal saline and later oral salt supplementation and fludrocortisone was successful.
PubMed: 33633924
DOI: 10.5414/CNCS110146 -
Heliyon Jul 2023Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye.... (Review)
Review
Axenfeld-Rieger Syndrome (ARS) is comprised of a group of autosomal dominant disorders that are each characterized by anterior segment abnormalities of the eye. Mutations in the transcription factors or are the most well-studied genetic manifestations of this syndrome. Due to the rarity this syndrome, ARS-associated neurological manifestations have not been well characterized. The purpose of this systematic review is to characterize and describe ARS neurologic manifestations that affect the cerebral vasculature and their early and late sequelae. PRISMA guidelines were followed; studies meeting inclusion criteria were analyzed for study design, evidence level, number of patients, patient age, whether the patients were related, genotype, ocular findings, and nervous system findings, specifically neurostructural and neurovascular manifestations. 63 studies met inclusion criteria, 60 (95%) were case studies or case series. The gene was most commonly found, followed by , then . The most commonly described structural neurological findings were white matter abnormalities in 26 (41.3%) of studies, followed by Dandy-Walker Complex 12 (19%), and agenesis of the corpus callosum 11 (17%). Neurovascular findings were examined in 6 (9%) of studies, identifying stroke, cerebral small vessel disease (CSVD), tortuosity/dolichoectasia of arteries, among others, with no mention of moyamoya. This is the first systematic review investigating the genetic, neurological, and neurovascular associations with ARS. Structural neurological manifestations were common, yet often benign, perhaps limiting the utility of MRI screening. Neurovascular abnormalities, specifically stroke and CSVD, were identified in this population. Stroke risk was present in the presence and absence of cardiac comorbidities. These findings suggest a relationship between ARS and neurovascular findings; however, larger scale studies are necessary inform therapeutic decisions.
PubMed: 37539177
DOI: 10.1016/j.heliyon.2023.e18225 -
Molecular Cytogenetics 2017Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.
BACKGROUND
Small supernumerary marker chromosomes can be derived from autosomes and sex chromosomes and can accompany chromosome pathologies, such as Turner syndrome.
CASE PRESENTATION
Here, we present a case report of a patient with mosaic Turner syndrome and Dandy-Walker syndrome carrying a marker chromosome. We showed the presence of the marker chromosome in 33.8% of blood cells. FISH of the probe derived from the marker chromosome by microdissection revealed that it originated from the centromeric region of chromosome X. Additionally, we showed no telomeric sequences and no XIST sequence in the marker chromosome. This is the first report of these two syndromes accompanied by the presence of a marker chromosome.
CONCLUSION
Marker chromosome was X-derived and originated from centromeric region. Patient has mild symptoms but there is no XIST gene in marker chromosome.
TRIAL REGISTRATION
CPG137. Registered 03 March 2017.
PubMed: 29177011
DOI: 10.1186/s13039-017-0344-2 -
Case Reports in Psychiatry 2016Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive...
Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.
PubMed: 27493822
DOI: 10.1155/2016/9104306 -
Radiology Case Reports Oct 2021Trigeminal neuralgia is a pain condition that affects the face along the distribution of the trigeminal nerve and can be recurrent and chronic. Dandy-Walker syndrome is...
Trigeminal neuralgia is a pain condition that affects the face along the distribution of the trigeminal nerve and can be recurrent and chronic. Dandy-Walker syndrome is a complex congenital brain anomaly that occurs during embryonic development of the cerebellum and the fourth ventricle. It is characterized by inferior cerebellar vermis hypoplasia and incomplete formation of the fourth ventricle. Dandy-Walker Syndrome is associated with comorbid genetic conditions. It can include congenital heart defects, eye abnormalities, intellectual disability, congenital tumors, and other brain defects such as agenesis of the corpus callosum. However, associations of trigeminal neuralgia and Dandy Walker syndrome have been an infrequent entity. Herein, we report a case of a 23-year-old female patient that presented with complaints of severe left orofacial pain over two years. MRI evaluation was consistent with Dandy-Walker malformation findings that we suspect caused the compression in the trigeminal root entry zone that ultimately gave rise to the patient's symptoms.
PubMed: 34429808
DOI: 10.1016/j.radcr.2021.07.049 -
Journal of Medical Genetics Apr 2023The Retriever subunit is the third responsible gene for Ritscher-Schinzel syndrome (RSS) after and . To date, only one pair of siblings have been reported and their...
PURPOSE
The Retriever subunit is the third responsible gene for Ritscher-Schinzel syndrome (RSS) after and . To date, only one pair of siblings have been reported and their condition was significantly more severe than typical RSS. This study aimed to understand the clinical spectrum and underlying molecular mechanism in VPS35L-associated RSS.
METHODS
We report three new patients with biallelic variants. Biochemical and cellular analyses were performed to elucidate disease aetiology.
RESULTS
In addition to typical features of RSS, we confirmed hypercholesterolaemia, hypogammaglobulinaemia and intestinal lymphangiectasia as novel complications of VPS35L-associated RSS. The latter two complications as well as proteinuria have not been reported in patients with and variants. One patient showed a severe phenotype and the other two were milder. Cells established from patients with the milder phenotypes showed relatively higher VPS35L protein expression. Cellular analysis found VPS35L ablation decreased the cell surface level of lipoprotein receptor-related protein 1 and low-density lipoprotein receptor, resulting in reduced low-density lipoprotein cellular uptake.
CONCLUSION
VPS35L-associated RSS is a distinct clinical entity with diverse phenotype and severity, with a possible molecular mechanism of hypercholesterolaemia. These findings provide new insight into the essential and distinctive role of Retriever in human development.
Topics: Humans; Abnormalities, Multiple; Dandy-Walker Syndrome; Heart Septal Defects, Atrial; Hypercholesterolemia
PubMed: 36113987
DOI: 10.1136/jmg-2022-108602