Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato / Dandy-Walker malformation associated with extracranial abnormalities in a newborn

La hidrocefalia es una condición clínica que consiste en un cúmulo de líquido cefalorraquídeo a nivel encefálico. Una de las causas, poco frecuente, es el síndrome de Dandy-Walker. Se presenta el caso de un recién nacido con diagnóstico prenatal de hidrocefalia secundaria a una malformación de Dandy-Walker y sospecha de genitales ambiguos. Tras el nacimiento, se confirma el diagnóstico prenatal de malformación de Dandy-Walker asociado a manifestaciones extracraneales poco frecuentes como hipospadias interescrotal y dilatación del seno coronario secundario a persistencia de la vena cava superior izquierda. Con este caso clínico queremos exponer la complejidad del síndrome de Dandy-Walker debido a sus múltiples asociaciones, que marcarán el pronóstico del paciente y la necesidad de tratamiento multidisciplinar.

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 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

Bilateral foraminal stenosis in patient with dandy-walker malformation: hiding pathology

Background: Etiologies of hydrocephalus are many and sometimes it can be attributed to be multifactorial in origin. Presence of known cause of hydrocephalus like fourth ventricular pathology may mask foramenal stenosis. Diagnosis of unilateral and bilateral stenosis of foramen of Monro should be included in the treatment plan in hydrocephalus. A case report of a 9 months-old boy presented with delayed milestones of development and an increase in head circumference. The patient has been diagnosed as hydrocephalus and associated Dandy-Walker malformation. Ventriculoperitoneal shunt was inserted successfully but drained only one lateral ventricle. The association of isolated lateral ventricle with Dandy-Walker malformation is due to stenosis of foramen of Monro. Our case report is unique due to association between foramen occlusion and Dandy-Walker malformation

Malformación de Dandy-Walker de diagnóstico tardío revelada por hipertensión intracraneal / Late diagnosis of Dandy-Walker’s malformation revealed by intracranial hypertension

La malformación de Dandy-Walker se ha descrito clásicamente por la triada de dilatación quística del cuarto ventrículo, hipoplasia del vermis cerebeloso e hidrocefalia. Los síntomas suelen aparecer en la infancia precoz. La presentación en la edad adulta es extremadamente rara, aunque puede ocurrir de forma espontánea o tras un traumatismo craneal. Caso clínico. Varón de 24 años que acude a urgencias por un cuadro compatible con hipertensión intracraneal. El TAC craneal reveló una malformación de Dandy-Walker. Comentario y Conclusiones. Aproximadamente el 80% de los pacientes con esta malformación se presentan durante le primer año de vida, principalmente con marcrocrania secundaria a la hidrocefalia. Por el contrario, en la edad adulta suelen presentarse con síntomas de disfunción de estructuras posteriores dando lugar a nistagmus, alteración de la marcha y ataxia, aunque también podrían presentar síntomas de hipertensión intracraneal...

Antenatal diagnosis of a rare fetal syndrome: is this a new syndrome or a variant of Goldston syndrome

Goldston Syndrome is a rare condition characterized by polycystic enlarged kidneys and Dandy-Walker Malformation. It is a rare variant of Meckel Gruber Syndrome. A case with a possible diagnosis of Goldston syndrome is presented; the diagnosis was made by fetal ultrasound at 30 weeks of gestation in 25 years old Saudi mother who had previous pregnancies with congenital malformations. Ultrasound of the fetus showed severe olighydramnios, Dandy-Walker malformation, enlarged echogenic kidneys and fetal ascites. To my knowledge, this is the fifth case of Goldston syndrome diagnosed during intrauterine life or could be a new entity because of fetal ascites

Dandy–Walker malformation: An incidental finding.

Dandy–Walker malformation (DWM) is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging.

Crises epilépticas convulsivas e malformação de Dandy-Walker no adulto: relato de caso / Seizures and the Dandy-Walker malformation in adulthood: a case report

A síndrome de Dandy-Walker é uma malformação cerebral caracterizada por hipoplasia ou agenesia do vérmis cerebelar e dilatação do quarto ventrículo, com formação cística na fossa posterior. O diagnóstico é realizado, na maioria dos casos, no período prénatalou na primeira infância, decorrente de anormalidades no desenvolvimento fetal ou de sinais e/ou sintomas de hidrocefalia. Raros casos assintomáticos são descritos no adulto, quase sempre diagnosticados casualmente a partir de exames de imagem. O paciente descrito neste relato foi diagnosticado com a malformação de Dandy-Walker aos 16 anos de idade após apresentar crises epilépticas convulsivas generalizadas como possível manifestação clínica da doença.

Síndrome de Dandy Walker / Dandy Walker Syndrome

Se presenta un caso de diagnóstico prenatal compatible con un Síndrome de Dandy Walter, malformación congénita caracterizada por un tipo de hidrocefalia extraventricular que se produce probablemente por atresia en los agujeros de Luschka y Magendie o a nivel del 4to ventrículo. En el ultrasonido de pilotaje genético a las 22 semanas de gestación se constatan alteraciones incompatibles con la vida que sugieren un asesoramiento genético...

A new association: Dandy-Walker's variant and tatralogy of Fallot with atrial septal defect and patent ductus arteriosus and primary hypothyroidy.

An 11-month-old girl who has Dandy-Walker's variant (DWV) associated with tetralogy of Fallot (TOF), atrial septal defect (ASD), patent ductus arteriosus (PDA), and primary hypothyroidy is presented. There has been no report describing a case of DWV associated with TOF, ASD and PDA and primary hypothyroidy. The first case of Dandy-Walker malformation associated with TOF was reported by Kohyama et al in 1988, since then, a few cases were reported in the literature. Our patient is the first reported case.

Complejo de Dandy Walker: evaluación prenatal / Dandy Walker complex: prenatal assessment

Síndrome al que se define como la asociación de hidrocefalia de grado variable con aumento de tamaño de la fosa craneal posterior y defecto del vermis del cerebelo. Se describen su etilogía, etiopatogenia, diagnóstico, y nuevas formas de abordaje de la fosa posterior.

Malformación de Dandy Walker y sus variantes / Dandy Walker malformation and its variants

Malformación que consiste en una alteración en el desarrollo embriológico, compuesta por una asociación de anomalías en el sistema nervioso central. Se describen variantes de la malformación, y su posible tratamiento.

Dandy-Walker syndrome in adult mimicking myasthenia gravis

The Dandy-Walker syndrome (DWS) is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-year-old woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image reveals DWS with hydrocephalus associated with calosal dysgenesis. The characteristic of disease, clinical manifestations and pathologic features, specially the clinical evaluation of ocular abnormalities in suspicion of DWS, including the MG in differential diagnosis are discussed.

A síndrome de Dandy-Walker (DWS) é uma rara malformação da fossa posterior que pode ocorrer associada com outras malformações cerebrais ou sistêmicas. As alterações oculares são raras e as manifestações clínicas, simulando miastenia gravis (MG), não foram descritas até o momento. Descrevemos uma mulher de 23 anos apresentando discreta limitação da movimentação ocular com progressiva ptose palpebral que mudava de intensidade durante o dia. A investigação mostrou negativos o anticorpo anti-receptor de acetilcolina, a estimulação nervosa repetitiva e o "teste do Tensilon", porém a ressonância magnética de crânio revelou DWS com hidrocefalia associada à disgenesia de corpo caloso. As características da doença, manifestações clínicas e patológicas, especialmente a avaliação clínica de anormalidade ocular na suspeita de DWS serão discutidas, incluindo a MG no diagnóstico diferencial.

Dandy-walker malformation

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be present, but the syndrome exists whenever these 3 features are found. Approximately 70-90% of patients have hydrocephalus, which often develops postnatally. Dandy- Walker malformation may be associated with atresia of the foramen of Magendie and, possibly, the foramen of Luschka. Dandy-Walker malformation first was described by Dandy and Blackfan. Since the original description, additional studies have reported on the various morphologic features of the syndrome. Not until 1954 did Benda first emphasized that atresia of the cerebellar outlet foramina is not an essential feature of the condition and suggested the now widely accepted term Dandy-Walker malformation. Studies by Hart et al further defined the characteristic triad of Dandy Walker malformation as consisting of: 1. Complete or partial agenesis of the vermis. 2. Cystic dilatation of the fourth ventricle. 3. An enlarged posterior fossa with upward displacement of lateral sinuses, tentorium, and torcular herophili. The triad typically is found in association with supratentorial hydrocephalus, which should be considered a complication rather than part of the malformation complex

Partial albinism, immunodeficiency, hypergammaglobulinemia and Dandy-Walker cyst--a Griscelli syndrome variant.

A 6-year-old girl presented with recurrent infections, seizures, regression of milestones, silvery hair and organomegaly. A diagnosis of Griscelli syndrome with unusual features of a Dandy Walker cyst and hypergammaglobulinemia, not previously described in literature, was made. The child was treated with supportive measures.

Síndrome hidroletal, Informe de una paciente en la maternidad Isidro Ayora (Quito-Ecuador) / Hidrolethalus syndrome. a case report

Introducción. El síndrome hidroletal es una rara entidad autosómica recesiva caracterizada principalmente por polihidramnios, hidrocefalia, letalidad y polidactilia. La gran mayoría de estos casos han sido descritos en Finlandia con escasos reportes de dicho problema en otros países. Caso clínico. Se reporta un caso con características compatibles con síndrome hidroletal en una pareja no consanguínea, sin ancestros europeos en cuyo caso el recién nacido no fallece a las pocas horas.Conclusión. Este sería el primer caso de síndrome hidroletal reportado en Latinoamérica y su presentación ligeramente diferente podría ser una variante alélica de su similar finlandés.

Síndrome de Dandy-Walker / Dandy-Walker syndrome

Os autores relatam um caso de uma paciente de 2 anos e 4 meses, com sintomas característicos de hipertensao intracraniana e disfunçao cerebelar. Realizada tomografia computadorizada, verificou-se a presença de uma grande coleçao cística na fossa posterior e hidrocefalia triventricular. O diagnóstico definitivo foi de síndrome de Dandy-Walker, opitando-se por um sistema de drenagem ventriculocistoperitoneal. Realiza-se, nesse trabalho, uma breve revisao quanto a sua patogenia e anormalidades associadas. E faz-se, ainda, uma discussao a respeito do método diagnóstico, tratamento e prognóstico desta síndrome.

Ultrasound diagnosis of Dandy-Walker cyst.

A variety of congenital malformations of the brain can be diagnosed by cranial sonography. Those which alter macroscopic morphology can be recognized and their findings are similar to those seen on computed tomography and pneumoencephalography. The ultrasonic findings in Dandy-Walker cyst are described in this report.