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Medicina (Kaunas, Lithuania) Jul 2019Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the...
Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.
Topics: Child; Dandy-Walker Syndrome; Female; Humans; Time Factors; Tomography, X-Ray Computed; Trisomy 18 Syndrome
PubMed: 31288482
DOI: 10.3390/medicina55070352 -
Current Opinion in Neurobiology Feb 2008The molecular control of cell-type specification within the developing cerebellum as well as the genetic causes of the most common human developmental cerebellar... (Review)
Review
The molecular control of cell-type specification within the developing cerebellum as well as the genetic causes of the most common human developmental cerebellar disorders have long remained mysterious. Recent genetic lineage and loss-of-function data from mice have revealed unique and nonoverlapping anatomical origins for GABAergic neurons from ventricular zone precursors and glutamatergic cell from rhombic lip precursors, mirroring distinct origins for these neurotransmitter-specific cell types in the cerebral cortex. Mouse studies elucidating the role of Ptf1a as a cerebellar ventricular zone GABerigic fate switch were actually preceded by the recognition that PTF1A mutations in humans cause cerebellar agenesis, a birth defect of the human cerebellum. Indeed, several genes for congenital human cerebellar malformations have recently been identified, including genes causing Joubert syndrome, Dandy-Walker malformation, and pontocerebellar hypoplasia. These studies have pointed to surprisingly complex roles for transcriptional regulation, mitochondrial function, and neuronal cilia in patterning, homeostasis, and cell proliferation during cerebellar development. Together, mouse and human studies are synergistically advancing our understanding of the developmental mechanisms that generate the uniquely complex mature cerebellum.
Topics: Animals; Cell Differentiation; Cell Lineage; Cell Movement; Cerebellum; Glutamic Acid; Humans; Mice; Nervous System Malformations; Neurons; Stem Cells; gamma-Aminobutyric Acid
PubMed: 18513948
DOI: 10.1016/j.conb.2008.05.010 -
Actas Espanolas de Psiquiatria Jul 2017
Topics: Adult; Dandy-Walker Syndrome; Female; Humans; Psychotic Disorders
PubMed: 28745390
DOI: No ID Found -
Child Neurology Open 2016Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of...
Interstitial deletions affecting the long arm of chromosome 3 have been associated with a broad phenotype. This has included the features of blepharophimosis-ptosis-epicanthus inversus syndrome, Dandy-Walker malformation, and the rare Wisconsin syndrome. The authors report a young female patient presenting with features consistent with all 3 of these syndromes. This has occurred in the context of a de novo 3q22.3q24 microdeletion including , , and . This patient provides further evidence for the role of and in Dandy-Walker malformation and is the third reported case of Dandy-Walker malformation to have associated corpus callosum thinning. This patient is also only the seventh to be reported with the rare Wisconsin syndrome phenotype.
PubMed: 28503614
DOI: 10.1177/2329048X16666362 -
Orphanet Journal of Rare Diseases May 2013The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal...
BACKGROUND
The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM.
METHODS AND RESULTS
Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q.
CONCLUSIONS
Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.
Topics: Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 3; Dandy-Walker Syndrome; Face; Female; Genetic Association Studies; Humans; Phenotype; Polymorphism, Single Nucleotide; Transcription Factors; Wisconsin; Young Adult; Zinc Fingers
PubMed: 23679990
DOI: 10.1186/1750-1172-8-75 -
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 -
Pediatrics and Neonatology Feb 2011Dandy-Walker syndrome (DWS) is a congenital brain malformation involving the cerebellum and fourth ventricle. We report a 6-month-old girl with DWS presenting an... (Review)
Review
Successful treatment of Dandy-Walker syndrome by endoscopic third ventriculostomy in a 6-month-old girl with progressive hydrocephalus: a case report and literature review.
Dandy-Walker syndrome (DWS) is a congenital brain malformation involving the cerebellum and fourth ventricle. We report a 6-month-old girl with DWS presenting an initially normal ventricular system and mild cyst-like lesion over the posterior fossa as assessed by postnatal brain sonography. However, symptoms and signs of increased intracranial cerebral pressure in terms of frequent vomiting and tense anterior fontanel developed, and these were associated with mild hypotonia and poor neck support, and upward-gaze palsy at the age of 6 months. Magnetic resonance imaging revealed a huge cystic lesion of the fourth ventricle, which filled the posterior fossa and ventricular dilatation. The tentorium was progressively displaced upward by the cyst. A nearly complete agenesis of the cerebellar vermis was also confirmed. After a successful endoscopic third ventriculostomy, a series of brain magnetic resonance imaging scans, taken during a follow-up survey, showed normal lateral and third ventricles. Consequently, symptoms of intracranial cerebral pressure resolved, and a developmental milestone was achieved. In conclusion, DWS can be confirmed postpartum, and endoscopic third ventriculostomy was found to be a preferential operative procedure for DWS with hydrocephalus. It may be effective for patients younger than 1 year.
Topics: Dandy-Walker Syndrome; Female; Humans; Hydrocephalus; Infant; Magnetic Resonance Imaging; Neuroendoscopy; Third Ventricle; Ventriculostomy
PubMed: 21385657
DOI: 10.1016/j.pedneo.2010.12.005 -
Neuropsychobiology 2019Dandy-Walker malformation is a rare congenital malformation involving cystic dilatation of the fourth ventricle, enlarged posterior fossa, complete or partial agenesis... (Review)
Review
INTRODUCTION
Dandy-Walker malformation is a rare congenital malformation involving cystic dilatation of the fourth ventricle, enlarged posterior fossa, complete or partial agenesis of the cerebellar vermis, elevated tentorium cerebelli, and hydrocephalus. Previous research highlighted a possible role for the cerebellum in schizophrenia as well as the contribution of underlying brain malformations to treatment resistance. Here, we present a case of a Dandy-Walker malformation-like condition revealed by a refractory schizophrenia in a 24-year-old male patient. We also conduct a literature review of all previously published case reports or case series of co-occurring posterior fossa abnormalities and schizophrenia or psychosis using a PubMed search query to better understand the potential link between these two disorders.
CASE PRESENTATION
A 9-month hospital stay was needed to address the treatment-resistant psychotic symptoms, and the patient continued to experience moderate symptoms despite the prescription of various antipsychotic and antidepressant medications. After an irregular initial medical follow-up, the patient is currently treated with 350 mg daily clozapine and 20 mg daily prazepam and still exhibits moderate anxiety without delirious thoughts, however allowing him to re-enroll at the university. Regarding the literature, 24 cases published between 1996 and 2017 were identified, reviewed and compared to the present case report.
DISCUSSION
This case report and literature review further illuminates the pathophysiology of psychotic disorders including the potential role of the cerebellum, reinforces the importance of a multidisciplinary approach for the neurological and psychiatric management of patients with schizophrenia, and highlights optimal pharmacological management strategies for treatment-resistant schizophrenia.
Topics: Cerebellum; Dandy-Walker Syndrome; Diagnosis, Differential; Drug Resistance; Hospitalization; Humans; Male; Schizophrenia; Young Adult
PubMed: 30448844
DOI: 10.1159/000494695 -
Journal of Clinical & Translational... Dec 2018Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its... (Review)
Review
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor.
PubMed: 30294553
DOI: 10.1016/j.jcte.2018.09.004 -
Journal of Pediatric Neurosciences Sep 2013Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are...
Moebius syndrome is a rare congenital neurological disorder. The most frequent mode of presentation is facial diplegia with bilateral lateral rectus palsy, but there are variations. Here, we report a rare case of Moebius syndrome in a 15-month-old child with unilateral facial palsy, bilateral abducens nerve palsy with Dandy Walker variant, and complete agenesis of corpus callosum.
PubMed: 24470815
DOI: 10.4103/1817-1745.123668