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Pediatric Neuroscience 1987This is a retrospective study of 28 infants and children with Dandy-Walker syndrome: 16 had a complete postmortem examination and 12 are currently being followed...
This is a retrospective study of 28 infants and children with Dandy-Walker syndrome: 16 had a complete postmortem examination and 12 are currently being followed clinically. Eleven of sixteen in the first category had hydrocephalus; 10 of those 11 had other central nervous system malformations, and 6 also had visceral anomalies. Four of the five without hydrocephalus had complex cardiac malformations and other visceral anomalies whereas 1 died as a consequence of acute myelogenous leukemia. The 12 children still under surveillance manifest no clinical evidence of significant visceral or central nervous system malformation, although 1 has CT scan evidence of agenesis of the corpus callosum. The majority (9/12) of these children have normal intelligence although 40% have focal neurologic deficits or gait abnormalities and 60% have an abnormal EEG. Frequent association of other malformations and/or visceral anomalies in children with Dandy-Walker syndrome make it difficult to propose a unifying hypothesis relative to embryogenesis of the syndrome.
Topics: Abnormalities, Multiple; Adolescent; Adult; Autopsy; Brain; Cerebrospinal Fluid Shunts; Child; Child, Preschool; Dandy-Walker Syndrome; Female; Humans; Hydrocephalus; Infant; Intelligence Tests; Male; Neurologic Examination; Retrospective Studies; Tomography, X-Ray Computed
PubMed: 3684814
DOI: 10.1159/000120299 -
Child's Nervous System : ChNS :... Oct 2013
Topics: Dandy-Walker Syndrome; Encephalocele; Humans; Male; Postoperative Complications; Ventriculoperitoneal Shunt
PubMed: 23801502
DOI: 10.1007/s00381-013-2208-3 -
Child's Nervous System : ChNS :... Jan 2024Meckel-Gruber syndrome is a lethal disorder characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In most cases, it is identified and terminated...
Meckel-Gruber syndrome is a lethal disorder characterized by occipital encephalocele, polycystic kidneys, and polydactyly. In most cases, it is identified and terminated antenatally. In this report, the authors present a case of Meckel-Gruber syndrome together with Dandy-Walker malformation. A pregnant woman referred at the 28th week of gestation with an abnormal ultrasound scan showing posterior encephalocele and bilaterally enlarged kidneys. Further imaging also indicated communication between the 4th ventricle and posterior cerebellar cerebrospinal fluid space, after which the fetus was diagnosed with Meckel-Gruber syndrome and Dandy-Walker malformation. Pregnancy termination was refused by the parents and the offspring was prematurely born to be the 2nd recurrence of Meckel-Gruber syndrome in this consanguine family. Remarkably, at the 3 different pregnancies, ultrasound was inconclusive before the 7th month of gestation. Though up to date Meckel-Gruber syndrome is ultimately lethal, the lifespan of affected newborns varied greatly. We suggest developing a severity classification to estimate life expectancy in unterminated cases.
Topics: Pregnancy; Female; Humans; Infant, Newborn; Dandy-Walker Syndrome; Encephalocele; Syndrome; Marriage; Polycystic Kidney Diseases; Ultrasonography, Prenatal
PubMed: 37530877
DOI: 10.1007/s00381-023-06104-x -
Rivista Di Psichiatria 2014Here we report the case of a patient with psychotic symptoms apparently resistant to antipsychotic treatments. Since the last admission in a psychiatric division the...
Here we report the case of a patient with psychotic symptoms apparently resistant to antipsychotic treatments. Since the last admission in a psychiatric division the patient was diagnosed with Bipolar Disorder type I and then referred to our Outpatients Unit of Treatment Resistant Psychosis, where she was subsequently re-diagnosed with Dandy-Walker Syndrome. The Dandy Walker Complex is a congenital brain malformation involving the fourth ventricle and the cerebellum. We investigated the cognitive impairment of the patient and found deficits prominently in executive functions. This report may add further evidence on the importance of a correct diagnosis prior to defining a patient as treatment resistant and highlights cerebellar dysfunctions that may contribute to neuropsychiatric symptoms and cognitive impairment.
Topics: Adult; Cognition Disorders; Dandy-Walker Syndrome; Female; Humans; Psychotic Disorders
PubMed: 24770576
DOI: 10.1708/1461.16151 -
Acta Neurologica Belgica Jun 2023To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and... (Review)
Review
OBJECTIVE
To investigate the clinical characteristics, the neuroimaging features and associated anomalies observed in children affected by Dandy-Walker malformations (DWM) and variants (DWV) in a single tertiary hospital in Catania and compare our data to their existent in the literature.
METHODS
A retrospective case series using the medical records has been performed on 28 children diagnosed with DWM and DWV admitted to a single tertiary section of Pediatric Neurology, Department of Catania, Italy from January 2005 to January 2021. We reviewed the neuroimaging using the new diagnostic criteria of Klein et al. RESULTS: Associated anomalies were frequently reported. Among these, hydrocephalus was found in 13/28 (48%), and hydrocephalus plus corpus callosum anomalies in three children (10%). We described corpus callosum, cardiac and genitourinary anomalies in 2/28 (7%), 3/28 (10%), and 3/28 (10%), respectively. The most common clinical features were the developmental delay and epilepsy observed in 19/28 (67%) and in 9/28 (32%) of the cases. The first exam at the diagnosis was MRI in 17/28 patients, followed by transfontanellar ultrasound in 5/28, computed tomography in 4/28 and prenatal ultrasound in 2/28. To note, a child with DWM was affected by Down syndrome and one by congenital disorders of N-linked glycosylation (CDG-IId).
CONCLUSIONS
Children with DWV were more commonly observed than children with DWM. Hydrocephalus is an anomaly, frequently and equally reported in both DWM and DMV. Perinatal complications were frequent adverse events with severe respiratory distress and need for cardiopulmonary resuscitation. Cognitive involvement and epilepsy were the most common comorbidities. Single DWV is associated with a better developmental outcome.
Topics: Pregnancy; Female; Child; Humans; Dandy-Walker Syndrome; Retrospective Studies; Hydrocephalus; Urogenital Abnormalities; Magnetic Resonance Imaging
PubMed: 36068432
DOI: 10.1007/s13760-022-02059-z -
Archivos Argentinos de Pediatria Feb 2014
Topics: Child; Dandy-Walker Syndrome; Female; Humans
PubMed: 24566791
DOI: 10.5546/aap.2014.103 -
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 -
Journal of Neurosurgery Jul 1981A clinical analysis of 23 patients with Dandy-Walker malformation indicates that more than 85% of them were diagnosed at or before 1 year of age, and that the incidence...
A clinical analysis of 23 patients with Dandy-Walker malformation indicates that more than 85% of them were diagnosed at or before 1 year of age, and that the incidence of associated anomalies is approximately 50%, with a 17% incidence for agenesis of the corpus callosum. The significance of the presence of these anomalies is substantiated by the fact that of the seven deaths recorded, six were related to this disease and five were affected by associated anomalies. The high mortality rate (26%) is comparable to that of other series. The differential diagnosis with posterior fossa extra-axial cysts is discussed. Ten patients were primarily treated with excision of the cyst membrane; all of them required subsequent shunting to control the intracranial pressure, demonstrating the futility of this approach. None of the patients treated with lateral ventricle shunting suffered an upward herniation of the posterior fossa contents, suggesting that combined shunting of the lateral and fourth ventricles is rarely necessary. The technical advantages of posterior fossa shunting alone are outlined. Of the 16 survivors, 14 were assessed for their mental development by means of standard psychometric testing. The results of the intelligence quotient (IQ) scoring have indicated that 71% of the patients have subnormal mental development (IQ less than 83). There was no significant relationship between retardation and associated anomalies, although agenesis of the corpus callosum was related to poor intellectual development in the two patients so affected (IQ's of 50 and 73).
Topics: Agenesis of Corpus Callosum; Brain; Cerebral Angiography; Cerebral Ventriculography; Cerebrospinal Fluid Shunts; Child, Preschool; Cranial Fossa, Posterior; Cysts; Dandy-Walker Syndrome; Diagnosis, Differential; Female; Humans; Hydrocephalus; Infant; Infant, Newborn; Intelligence; Male; Tomography, X-Ray Computed
PubMed: 6972441
DOI: 10.3171/jns.1981.55.1.0089 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Dec 2013To investigate the etiology, pathogenesis, clinicopathologic characteristics, clinical prognosis and treatment of Dandy-Walker syndrome. (Review)
Review
OBJECTIVE
To investigate the etiology, pathogenesis, clinicopathologic characteristics, clinical prognosis and treatment of Dandy-Walker syndrome.
METHODS
Nine cases of Dandy-Walker syndrome were included in the study. The autopsy findings and clinical history were evaluated along with review of the literature. The causes, pathogenetic mechanism, pathologic features and prognosis of Dandy-Walker syndrome were analyzed.
RESULTS
Among 9 Dandy-Walker syndrome cases, six patients presented with variants of Dandy-Walker complex and 3 cases had classic Dandy-Walker malformation. In addition, 4 patients presented with combined lateral ventricle expansion and multiple malformations were seen in 7 cases. Combined umbilical cord abnormality was noted in 4 patients with variant of Dandy-Walker complex and combined placental abnormality was seen in one classic Dandy-Walker syndrome.
CONCLUSIONS
Dandy-Walker syndrome is a rare disease. In addition to complex pathogenesis with possible genetic and environmental antigenic etiologies, placental and umbilical cord abnormality may be also related to its development.
Topics: Abortion, Induced; Autopsy; Dandy-Walker Syndrome; Female; Fetal Diseases; Fetus; Gestational Age; Humans; Lateral Ventricles; Male; Placental Insufficiency; Pregnancy; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 24507099
DOI: No ID Found -
Taiwanese Journal of Obstetrics &... Oct 2017Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is...
OBJECTIVE
Trisomy 18 is one of the major numerical chromosomal disorders. The incidence of trisomy 18 is approximately one in 6000 live births. Dandy-Walker malformation (DWM) is the most common congenital malformation of the cerebellum, with an incidence of about one in 5000 live births. The incidence of trisomy 18 associated with DWM is rare and long-term survival rate is very low.
CASE REPORT
A case involving a 39-year-old pregnant female with a case of trisomy 18 associated with DWM.
CONCLUSION
The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition. We report a case involving a 39-year-old pregnant female with a case of trisomy 18 associated with Dandy-Walker malformation (DWM). Fetal ultrasonography showed hypoplasia of the cerebellar vermis and dilatation of the fourth ventricle and was characterized by an enlarged posterior fossa. Fetal magnetic resonance imaging showed inferior vermian hypoplasia and a large posterior fossa cyst communicating with the fourth ventricle causing high insertion of the torcular herophili, which was compatible with DWM. Furthermore, the karyotyping report revealed trisomy 18. The incidence of trisomy 18 associated with DWM is rare, and our report presents an unusual case that supplements our knowledge of this condition.
Topics: Adult; Dandy-Walker Syndrome; Female; Humans; Kidney; Magnetic Resonance Imaging; Pregnancy; Prenatal Diagnosis; Trisomy 18 Syndrome; Ultrasonography, Prenatal
PubMed: 29037562
DOI: 10.1016/j.tjog.2017.08.022