Surgical management of Dandy-Walker syndrome in infants and the literature review / 中国综合临床

Dandy-Walker syndrome is one of the posterior fossa malformations, which is easily confused with arachnoid cyst or cerebellar dysplasia in clinical practice, leading to misdiagnosis. Dandy-Walker syndrome is easy to be combined with hydrocephalus, resulting in increased intracranial pressure, increased head circumference, growth retardation, spastic hemiplegia and other manifestations, and can also be accompanied by other nervous system malformations. On February 27, 2021, a child with Dandy-Walker syndrome with growth retardation as the primary manifestation was admitted to Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine. After multiple surgical treatment, the child's hydrocephalus was significantly improved. Through the analysis of the clinical data of the child's operation and the treatment of complications, it is helpful to improve the clinicians' understanding of the surgical treatment of the disease.

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

Genetic diagnosis of a fetus with Dandy-Walker syndrome / 中华医学遗传学杂志

Objective@#To explore the genetic basis for a fetus with Dandy-Walker malformation.@*Methods@#G-banding chromosomal karotyping, single nucleotide polymorphism microarray (SNP array) and fluorescence in situ hybridization (FISH) were carried out for the fetus. Chromosomal karyotyping and FISH assay were also carried out for both parents.@*Results@#SNP array has detected a 4266 kb microdeletion at 6p25.3p25.1 in the fetus, which was confirmed by FISH. FISH analysis of the parents demonstrated that the father has carried a cryptic t(6; 14)(p25.1; p13) translocation, while the fetus has a der(6)t(6; 14)(p25.1; p13) derived the paternal translocation.@*Conclusion@#The der(6)t(6; 14)(p25.1; p13) probably underlies the Dandy-Walker malformation in the fetus. The 6p25.3p25.1 microdeletion is due to unbalanced gametes produced by the father’s cryptic balanced translocation.

Ligneous conjunctivitis in a Dandy–Walker syndrome: A rare case report

Ligneous conjunctivitis (LC) is a rare form of pseudomembranous conjunctivitis seen in children, perhaps due to plasminogen deficiency, which manifest as a chronic refractory pseudomembranous conjunctivitis. LC cases are incapable in maintaining their fibrinolytic activity due to plasminogen deficiency; consequently, transudates of plasma assume as a thick, gelatinous, woody membranes over the mucosal surfaces. This is a short case report on a child with a LC, who presented with recurrent pseudomembranous conjunctivitis in conjunction with progressive congenital hydrocephalus due to aqueductal stenosis (Dandy–Walker syndrome). This rare association was clinically confirmed and prompt corrective surgical measures were instituted.

Cochlear implant in a child diagnosed with Dandy-Walker Syndrome Variant: a study case / Implante coclear em criança diagnosticada com Variante da Síndrome de Dandy-Walker: estudo de caso

ABSTRACT Dandy-Walker Syndrome Variant presents itself as a milder form of Dandy-Walker Syndrome, with less pronounced vermis hypoplasia, and hearing impairment is among its characteristics. This study aimed to report the case of a male patient aged 4.5 clinically diagnosed with Dandy-Walker Syndrome variant, a cochlear implant user, who was referred to rehabilitation services and followed up by a multidisciplinary team. The patient underwent therapy assisted by an audiologist/speech therapist and a physiotherapist between June 2016 and December 2016, totaling 20 sessions, with emphasis on the Aurioral approach. His evolution regarding hearing and motor abilities was evaluated through standardized instruments that helped to catalogue the patient's evolution and responses in an empirical way. The development of his auditory and motor skills, evaluated through standardized tests used as parameters of therapeutic evolution, demonstrated that rehabilitation, performed by a multi-professional team, can be satisfactorily applied in the management of cases where deafness does not appear as the only associated factor. It is suggested that a cochlear implant, despite the difficulties peculiar to the syndrome in question, can be an effective resource to acquire oral language and reach more complex stages related to hearing and language skills.

RESUMO A Variante da Síndrome de Dandy-Walker apresenta uma forma mais branda em relação à Síndrome de Dandy-Walker, sendo a hipoplasia do vermes menos acentuada e dentre suas características, a deficiência auditiva. O estudo objetivou relatar o caso de um paciente do sexo masculino, 4:5 anos, quadro compatível com Variante da Síndrome, usuário de implante coclear, referenciado ao serviço de reabilitação com equipe multidisciplinar. Foi inserido em terapia com fonoaudiólogo e fisioterapeuta, no período entre julho a dezembro de 2016, totalizando 20 sessões, com ênfase na abordagem Aurioral. Avaliou-se sua evolução quanto às habilidades auditivas e motoras, por meio de instrumentos padronizados que auxiliaram na catalogação da evolução e das respostas do paciente de maneira empírica. O desenvolvimento das habilidades auditivas e motoras, avaliadas por meio de testes utilizados como parâmetros de evolução terapêutica demonstraram que a reabilitação, realizada em equipe multiprofissional, pode ser aplicada satisfatoriamente no gerenciamento de casos em que a surdez não aparece como único fator. Sugere-se que o implante coclear, apesar das dificuldades peculiares à síndrome, pode ser um recurso eficiente para aquisição da linguagem oral e alcance de etapas mais complexas relacionadas às habilidades auditivas e de linguagem.

Presentación de un caso con síndrome de Dandy Walker / Presentation of a case with Dandy Walker syndrome

Se presentó un paciente de sexo femenino de 13 años, con antecedentes aparentes de salud, que comenzó con parestesias intermitentes, sensación de hormigueo en la parte medial de la cara, disminución de la fuerza muscular en el lado izquierdo del cuerpo; acudió al Servicio de Imagenología del Centro de Alta Tecnología de CHUAO, Caracas, Venezuela y se le realizó resonancia magnética para estudio de cráneo con secuencias Flair en secuencias coronales, T1 en secuencias sagitales, T2 axiales. La resonancia mostró una dilatación quística del IV ventrículo con agrandamiento ligero de la fosa posterior y elevación del tentorio e hipoplasia del vermis cerebeloso que concordó con una malformación de Dandy Walker, la intensidad de señales y morfología de las estructuras supratentoriales eran normales. No se apreciaron alteraciones en la región selar, ni supraselar. Se remitió a Consulta de Neurocirugía para evaluar tratamiento quirúrgico.

A 13-year-old female patient with an apparent health history, which began with intermittent paresthesias, tingling sensation in the medial part of the face, decreased muscle strength in the left side of the body is presented, the patient underwent magnetic resonance imaging to study skull with Flair sequences in coronal sequences, sequences Sagittal T1, T2 axial at the Imaging Service Center for High Technology Chuao, Caracas, Venezuela. The resonance showed a cystic dilatation of the IV ventricle with slight enlargement of the posterior fossa and elevation of the tentorium and cerebellar vermis hypoplasia that agreed with a Dandy Walker malformation, signal intensity and morphology of the supratentorial structures were normal. No alterations were observed in the sellar or suprasellar region. The patient was referred to Neurosurgery Consultation to evaluate surgical treatment.

Surgical treatment of adult Dandy-Walker syndrome / 局解手术学杂志

Objective To discuss the surgical method and efficacy of adult Dandy-Walker syndrome ( DWS) through retrospective anal-ysis and literature review .Methods There were 3 cases of adult DWS in our hospital from August 2010 to August 2011.One case of them was given posterior cranial fossa cyst peritoneal shunt , and the surgery adopted ordinary high voltage shunt .Case 2 was given left side of the lateral ventricle peritoneal shunt , and the surgery adopted ordinary high voltage shunt .Case 3 was given posterior cranial fossa cyst peritoneal shunt combined with left side of the lateral ventricle peritoneal shunt , and the surgery adopted double-end high voltage shunt .The two ends of the shunt were respectively linked with the diverter valve and abdominal cavity drainage tube through T -branch pipe .Results Among the 3 patients, there was 1 case failed to ease the headache symptoms , and it was relieved one month later .The preoperative symptoms of the oth-er 2 cases disappeared immediately after the surgery .During the 4 years of follow-up,preoperative symptoms of the 3 patients disappeared , and there was no positive signs .Conclusion For adult patients with symptomatic DWS ,shunt surgery can eliminate symptoms ,relieve the tension of the posterior fossa cyst ,achieve good curative effect , and there was no surgical complication .

Meckel’s Gruber With Dandy-Walker Syndrome.

Abstracts: Background: Meckel-Gruber syndrome (MGS) is a classic triad of occipital encephalocele, postaxial polydactyly and dysplastic cystic kidney with or without other associated malformations. Dandy-Walker malformation (DWM) is the association of three signs: hydrocephalus, partial or complete absence of the cerebellar vermis, and posterior fossa cyst contiguous with the fourth ventricle. Methodology: A 30 weeks dead fetus fixed in formalin was sent at Genetic Health And Research Center, Nasik for further evaluation. It was diagnosed by ultrasonography as Dandy walker syndrome with multiple congenital anomalies. Autopsy finding confirmed that it was Meckel’s Gruber syndrome. Results & Discussion: Meckel-Gruber syndrome is extremely heterogenous syndrome with six different loci and it inherits in families as autosomal recessive disease with 25% of chance of recurrence in each pregnancy. MGS affects multiple organ systems of the body leading to many other pathological conditions such as Arnold-Chiari malformation or Dandy-Walker malformation. It is suggested to be caused by failure of the mesodermal induction leading to ciliopathies caused by dysfunction of cilia. The occurrence of a Dandy-Walker malformation in Meckel-Gruber syndrome confirms disturbance in rhombencephalon development and such variants are very uncommon. Many cases of Dandy Walker Syndome as such have been published throughout but Dandy Waker associated with Meckel’s Gruber Syndrome is extremely rare. Conclusion: We propose that proper autopsy of all still birth should be conducted to guide parents for possible risks in subsequent pregnancies. Prenatal and postnatal counseling and prenatal diagnosis should be encouraged in all disease prone cases.

Neurocutaneous Melanosis in Association with Dandy-Walker Complex with Extensive Intracerebral and Spinal Cord Involvement

Neurocutaneous melanosis (NCM) is a rare congenital syndrome consisting of benign or malignant melanotic tumors of the central nervous system with large or numerous cutaneous melanocytic nevi. The Dandy-Walker complex (DWC) is characterized by an enlarged posterior fossa with high insertion of the tentorium, hypoplasia or aplasia of the cerebellar vermis, and cystic dilatation of the fourth ventricle. These each two conditions are rare, but NCM associated with DWC is even more rare. Most patients of NCM with DWC present neurological symptoms early in life such as intracranial hemorrhage, hydrocephalus, and malignant transformation of the melanocytes. We report a 14-year-old male patient who was finally diagnosed as NCM in association with DWC with extensive intracerebral and spinal cord involvement.

Endoscopic third ventriculostomy is a safe and effective procedure for the treatment of Blake's pouch cyst / Terceiroventriculostomia endoscopica e um procedimento efetivo e seguro para o tratamento dos cistos da bolsa de Blake

OBJECTIVE: Blake's pouch cyst (BPC) is a midline cystic malformation of the posterior fossa, within Dandy-Walker's complex (DWC), often associated with hydrocephalus. Endoscopic third ventriculostomy (ETV) has been an alternative to conventional methods for BPC treatment. This study aimed at reporting our experience with ETV in a series of patients with BPC. METHODS: Of 33 patients diagnosed with midline posterior fossa cyst, 26 met the protocol criteria for DWC, and eight subjects with BPC were selected (aged one month to two years old). All cases were treated with ETV. RESULTS: Five patients were male; and three were prenatally diagnosed. They had hydrocephalus and motor deficiencies. Motor assessment at a five-year follow-up yielded normal findings. All patients improved, and only one had residual cognitive dysfunction, despite overall neurological improvement. There were no complications. CONCLUSIONS: ETV was a safe and effective procedure, reducing risks and morbidity associated with open surgery and shunt-related problems. .

OBJETIVO: O cisto da bolsa de Blake (CBB) é uma malformação cística mediana da fossa posterior, dentro do complexo de Dandy-Walker (CDW), frequentemente associada à hidrocefalia. A terceiroventriculostomia endoscópica (TVE) tem sido considerada uma alternativa aos métodos convencionais de tratamento do CBB. Este estudo teve como objetivo relatar nossa experiência com TVE em uma série de pacientes com CBB. MÉTODOS: Dos 33 pacientes diagnosticados com cisto mediano da fossa posterior, 26 preencheram os critérios do protocolo para CDW, dos quais oito foram selecionados com CBB (idades variando entre um mês a dois anos). Todos os casos foram tratados com TVE. RESULTADOS: Cinco pacientes eram do sexo masculino, três tiveram diagnóstico no pré-natal; e todos apresentavam hidrocefalia e alterações motoras. A avaliação motora após cinco anos apresentou resultados normais. Todos os pacientes melhoraram, e apenas um apresentou um leve déficit cognitivo, apesar da melhora neurológica geral. Não houve complicações. CONCLUSÕES: A TVE foi um procedimento seguro e eficaz, reduzindo riscos e morbidade associados à cirurgia aberta e a problemas relacionados aos shunts.

Cochlear implantation in patient with Dandy-walker syndrome

Introduction: Dandy Walker Syndrome is a congenital abnormality in the central nervous system, characterized by a deficiency in the development of middle cerebelar structures, cystic dilatation of the posterior pit communicating with the fourth ventricle and upward shift of the transverse sinuses, tentorium and dyes. Among the clinical signs are occipital protuberances, a progressive increase of the skull, bowing before the fontanels, papilledema, ataxia, gait disturbances, nystagmus, and intellectual impairment. Objectives: To describe a case of female patient, 13 years old with a diagnosis of this syndrome and bilateral hearing loss underwent cochlear implant surgery under local anesthesia and sedation. Case Report: CGS, 13 years old female was referred to the Otolaryngological Department of Otolaryngology Institute of Parana with a diagnosis of "Dandy-Walker syndrome" for Otolaryngological evaluation for bilateral hearing loss with no response to the use of hearing aids. Final Comments: The field of cochlear implants is growing rapidly. We believe that the presence of Dandy-Walker syndrome cannot be considered a contraindication to the performance of cochlear implant surgery, and there were no surgical complications due to neurological disorders with very favorable results for the patient who exhibits excellent discrimination. It has less need for lip reading with improvement in speech quality...

Neurocutaneous melanosis with the Dandy-Walker malformation: one case report / 中华神经科杂志

ObjectiveTo investigate the clinic and pathologic features of one patient diagnosed with neurocutaneous melanosis ( NCM ) by biopsy.MethodsA 21-year-old woman presented with a 2-month history of tinnitus,headache,vomiting and 1-month history of impaired vision.At birth,a massive nevus covering most of the posterior abdomen had been noted as well as the presence of multiple smaller lesions all over the body.Magnetic resonance imaging demonstrated a posterior fossa cyst compatible with the Dandy-Walker syndrome and extensive leptomeningeal enhancement. Surgery was performed to cystectomy and to obtain pathologic specimens from the leptomeninges. Biopsy and immunohistochemical study was performed.ResultsAt surgery,diffuse black pigmentation of the leptomeninges and the cyst was found.Under microscope,the cyst and leptomeninges were composed with melanocytes with variable pigmentation.Those cells positive for HMB45,MelanA,S100 and vimentin.Ki-67 positive cells ＜ 1％.The pathologic diagnosis wasleptomeningeal diffusemelanocytosis. Thepatientdied 2months after thesurgery.ConclusionsNCM is characterized by a focal or diffuse proliferation of melanin-producing cells in both the skin and the leptomeninges.NCM could be compatible with the Dandy-Walker syndrome.Definite diagnosis relies upon the histological data obtained by mean of biopsy.

Dandy-Walker Syndrome with Submucous Cleft Palate: A Case Report

PURPOSE: Dandy-Walker syndrome is a rare congenital brain malformation that occurs one in every 25,000-35,000 live births, mostly in females. It is characterized by cystic enlargement of the fourth ventricle, agenesis or hypogenesis of the cerebellar vermis and enlargement of the posterior fossa. In this report, the authors aimed to address a rare case of a 14-months-old female Dandy-Walker syndrome patient that is presented with submucous cleft palate. METHODS: A 14-months-old female patient admitted to our outpatient clinic, via the department of pediatrics, with the complaints of nasal regurgitation, choking and breathing difficulties. She was diagnosed as Dandy-Walker syndrome by magnetic resonance imaging evaluation, at another hospital and underwent a shunt operation for the hydrocephalus continuing treatments. On physical examination, she had structural abnormality of bifid uvula, and palpable notch in the posterior surface of the hard palate. Her submucous cleft palate was corrected, which used a double opposing Z-plasty under general anesthesia. RESULTS: In a follow-up period of 2 months, no complications, such as wound dehiscence, necrosis and infection occurred, which shows satisfactory results. She consulted with pediatric neurologists and physical therapists for further evaluation and management of the abnormalities in the central nervous system. CONCLUSION: Dandy-Walker syndrome patient with a cleft palate is a very rare case to find, which only a few cases are reported around the world. Authors would like to share this case of Dandy-Walker syndrome patient, with submucous cleft palate, who underwent a double opposing Z-plasty that shows satisfactory results.

Dandy-Walker Syndrome with Submucous Cleft Palate: A Case Report

PURPOSE: Dandy-Walker syndrome is a rare congenital brain malformation that occurs one in every 25,000-35,000 live births, mostly in females. It is characterized by cystic enlargement of the fourth ventricle, agenesis or hypogenesis of the cerebellar vermis and enlargement of the posterior fossa. In this report, the authors aimed to address a rare case of a 14-months-old female Dandy-Walker syndrome patient that is presented with submucous cleft palate. METHODS: A 14-months-old female patient admitted to our outpatient clinic, via the department of pediatrics, with the complaints of nasal regurgitation, choking and breathing difficulties. She was diagnosed as Dandy-Walker syndrome by magnetic resonance imaging evaluation, at another hospital and underwent a shunt operation for the hydrocephalus continuing treatments. On physical examination, she had structural abnormality of bifid uvula, and palpable notch in the posterior surface of the hard palate. Her submucous cleft palate was corrected, which used a double opposing Z-plasty under general anesthesia. RESULTS: In a follow-up period of 2 months, no complications, such as wound dehiscence, necrosis and infection occurred, which shows satisfactory results. She consulted with pediatric neurologists and physical therapists for further evaluation and management of the abnormalities in the central nervous system. CONCLUSION: Dandy-Walker syndrome patient with a cleft palate is a very rare case to find, which only a few cases are reported around the world. Authors would like to share this case of Dandy-Walker syndrome patient, with submucous cleft palate, who underwent a double opposing Z-plasty that shows satisfactory results.

Diagnóstico prenatal del Síndrome de Dandy-Walker clásico / Prenatal diagnosis of the classic Dandy-Walker's syndrome

Alrededor de 1 por cada 1 000 recién nacidos presenta algún tipo de alteración cráneo encefálica, constituyen el 15 por ciento de todas las malformaciones. El Síndrome de Dandy-Walker constituye el espectro de trastornos, resultantes de un desarrollo anómalo del cerebelo asociado con una alteración en el desarrollo del cuarto ventrículo. Constituye una malformación congénita poco frecuente. Se pretende resaltar la importancia del diagnóstico precoz por ultrasonografía de malformaciones congénitas en el nivel primario de atención médica. Se presenta el diagnóstico prenatal, por ultrasonido, de un caso que a las 20 sem de gestación se le observaron imágenes ecolúcidas en el feto ubicadas a nivel del cerebelo, 4to ventrículo y atrium ventricular lo que hizo sospechar de inmediato en el diagnóstico de un Síndrome de Dandy Walker, sin otra alteración demostrable en este tiempo de embarazo. Previo asesoramiento genético, la pareja decidió la terminación del embarazo. El caso fue confirmado por Anatomía patológica y no se encontraron otras malformaciones asociadas

Around one by each 1 000 newborns has some type of encephalic skull alteration accounting for the 15 percent of all the malformations. The Dandy-Walker syndrome is the disorder spectrum, resulting from an anomalous cerebellum development associated with an alteration in the four ventricle development. It is an uncommon congenital malformation. Authors try to emphasize on the significance of the ultrasonography in the early diagnosis of congenital malformations at medical care primary level. Authors present the US prenatal diagnosis of a patient that at 20 weeks of pregnancy with fetal echo-lucid images located at cerebellum level, fourth ventricle and ventricular atrium arousing immediate suspect of Dandy-Walker diagnosis without other alterations present at this pregnancy stage. With a previous genetic advice, couple took the decision of end the pregnancy. This case was confirmed by a pathologic anatomy study without other associated malformation

Síndrome do X Frágil com variante de Dandy-Walker: estudo clínico das manifestações comunicativas orais e escritas / Fragile X syndrome with Dandy-Walker variant: a clinical study of oral and written communicative manifestations

A síndrome do X Frágil é a causa mais frequente de deficiência intelectual hereditária. A variante de Dandy-Walker trata-se de uma constelação específica de achados neurorradiológicos. Este estudo relata achados da comunicação oral e escrita de um menino de 15 anos com diagnóstico clínico e molecular da síndrome do X-Frágil e achados de neuroimagem do encéfalo compatíveis com variante de Dandy-Walker. A avaliação fonoaudiológica foi realizada por meio da Observação do Comportamento Comunicativo, aplicação do ABFW - Teste de Linguagem Infantil - Fonologia, Perfil de Habilidades Fonológicas, Teste de Desempenho Escolar, Teste Illinois de Habilidades Psicolinguísticas, avaliação do sistema estomatognático e avaliação audiológica. Observou-se: alteração de linguagem oral quanto às habilidades fonológicas, semânticas, pragmáticas e morfossintáticas; déficits nas habilidades psicolinguísticas (recepção auditiva, expressão verbal, combinação de sons, memória sequencial auditiva e visual, closura auditiva, associação auditiva e visual); e alterações morfológicas e funcionais do sistema estomatognático. Na leitura verificou-se dificuldades na decodificação dos símbolos gráficos e na escrita havia omissões, aglutinações e representações múltiplas com o uso predominante de vogais e dificuldades na organização viso-espacial. Em matemática, apesar do reconhecimento numérico, não realizou operações aritméticas. Não foram observadas alterações na avaliação audiológica periférica. A constelação de sintomas comportamentais, cognitivos, linguísticos e perceptivos, previstos na síndrome do X-Frágil, somada às alterações estruturais do sistema nervoso central, pertencentes à variante de Dandy-Walker, trouxeram interferências marcantes no desenvolvimento das habilidades comunicativas, no aprendizado da leitura e escrita e na integração social do indivíduo.

The Fragile X syndrome is the most frequent cause of inherited intellectual disability. The Dandy-Walker variant is a specific constellation of neuroradiological findings. The present study reports oral and written communication findings in a 15-year-old boy with clinical and molecular diagnosis of Fragile X syndrome and neuroimaging findings consistent with Dandy-Walker variant. The speech-language pathology and audiology evaluation was carried out using the Communicative Behavior Observation, the Phonology assessment of the ABFW - Child Language Test, the Phonological Abilities Profile, the Test of School Performance, and the Illinois Test of Psycholinguistic Abilities. Stomatognathic system and hearing assessments were also performed. It was observed: phonological, semantic, pragmatic and morphosyntactic deficits in oral language; deficits in psycholinguistic abilities (auditory reception, verbal expression, combination of sounds, auditory and visual sequential memory, auditory closure, auditory and visual association); and morphological and functional alterations in the stomatognathic system. Difficulties in decoding the graphical symbols were observed in reading. In writing, the subject presented omissions, agglutinations and multiple representations with the predominant use of vowels, besides difficulties in visuo-spatial organization. In mathematics, in spite of the numeric recognition, the participant didn't accomplish arithmetic operations. No alterations were observed in the peripheral hearing evaluation. The constellation of behavioral, cognitive, linguistic and perceptual symptoms described for Fragile X syndrome, in addition to the structural central nervous alterations observed in the Dandy-Walker variant, caused outstanding interferences in the development of communicative abilities, in reading and writing learning, and in the individual's social integration.

Dandy-Walker Syndrome:5 cases report and literature review / 中华全科医师杂志

5 cases diagnosed with Dandy-Walker Syndrome from May 2006 to November 2009 were investigated and relevant literature reviewed. Dandy-Walker Syndrome was characterized by retarded motordevelopment and cerebellar signs. The latter was observed in 3 cases in our series. The disorder, mostly influencing childhood, typically causes the fourth ventricle enlarged, and the cauda cerebelli atrophic or even absent. MRI is the most optimal radiological method to diagnose it.

Value of transabdominal ultrusonography in detection of cerebellar vermis in fetus / 中华超声影像学杂志

Objective To detect the normal values of fetal cerebellar vermis using transabdominal ultrasonography and assess its clinical significance in the diagnosis of vermal hypoplasia(agenesis). Methods A total of 111 fetuses were evaluated by transabdominal sonography between 20 and 40 weeks of gestation.The mid-sagittal antero-posterior(AP) and cranio-caudal(CC) vermian diameters were measured. A second group of 15 fetuses with cisterns magna were assessed and compared with the value of normal fetuses.0.05) and correlated linearly with gestational age ( AP = - 5.406 + 0. 761 GA, r = 0.97 ; CC = - 5.795 +fissure, second fissure and fastigium may help identify developmental anomalies. Conclusions Transabdominal ultrasonography is a valuable tool in the study of fetal vermis during the second half of pregnancy.

Variante de Dandy Walker? relato de caso / Dandy Walker variant ? a case report

Objetivos: relatar o caso de um paciente com variante de Dandy Walker, chamando atenção para a importância da suspeita, investigação e manejo das repercussões clínicas.Descrição do caso: é relatado o caso de um paciente do sexo masculino, com quadro clínico e radiológico típico da Variante de Dandy Walker. Durante o pré-natal, através de ecografia obstétrica com 23 semanas e 3 dias, apresentou alterações sugestivas de Síndrome de Dandy Walker. Ao nascimento apresentou exame físico com fenda palatina, criptorquidia à direita, hexodactilia em ambos os pés. Apresentava ainda ecocardiograma com forame oval patente e persistência do canal arterial. O diagnóstico foi estabelecido através da ressonância magnética realizada após o nascimento, que evidenciava hipoplasia do vermis cerebelar, alargamento da fossa posterior e leve dilatação ventricular. Conclusões: este artigo procura caracterizar a variante de Dandy Walker, que é uma malformação congênita do sistema nervoso central e é o tipo mais comum da Síndrome de Dandy Walker. Seu fenótipo é variável, devendo-se sempre pesquisar malformações tanto intra quanto extracranianas, visto que o risco de mortalidade pós-natal aumenta quando existe esta associação. O tratamento envolve equipe multidisciplinar e o prognóstico é reservado, variando conforme o fenótipo.

Aims: To report the case of a patient with Dandy Walker Variant, reinforcing the importance of suspicion, investigation, diagnosis, and management of clinical presentations.Case description: A case of a male patient with clinical and radiological presentation typical of this disease is reported. During prenatal assessment, obstetrical ultrasound by 23 weeks and 3 days showed changes suggestive of Dandy Walker syndrome. At birth, physical examination showed cleft palate, right cryptorchidism and hexodactilia on both feet. He had also an echocardiography with foramen ovale and patent ductus arteriosus. The diagnosis was confirmed by magnetic resonance imaging after birth, showing hypoplasia of cerebellar vermis, enlargement of the posterior fossa and mild ventricular dilatation.Conclusions: This article aimed to characterize the Dandy Walker Variant, which is a congenital malformation of the central nervous system and is the most common type of Dandy Walker Syndrome. Its phenotype is variable and we should always search for both intra and extracranial abnormalities, since the risk of postnatal mortality increases when there is such association, as presented in this case. The treatment involves a multidisciplinary approach. Prognosis is limited and varies according to the phenotype.

Malformación de Dandy-Walker: reporte de un caso / Dandy-Walker malformation: a case report

La malformación de Dandy–Walker es una alteración congénita que compromete el cerebelo y el cuarto ventrículo. Esta condición se caracteriza por agenesia o hipoplasia del vermis cerebeloso, dilatación quística del cuarto ventrículo y alargamientode la fosa posterior. Aproximadamente, 70-90% de los pacientes presenta hidrocefalia, que se desarrolla, generalmente, en el periodo postnatal. La malformación de Dandy-Walker puede estar asociada con atresia del foramen de Magendie y, posiblemente, del foramen de Luschka. La malformación de Dandy-Walker fue descrita por primera vez por Dandy y Blackfan en 1914. Estudios realizados por D’Agostino en 1963 y Hart et al en 1972 definieron la triada característica de la malformación de Dandy-Walker que consiste en (1) agenesia parcial o completa del vermis; (2) dilatación quística del cuarto ventrículo y (3) alargamiento de la fosa posterior.Esta triada típica se encuentra, generalmente, relacionada con hidrocefalia supratentorial, que debe considerarse más como una complicación que como parte del complejo de la malformación. La incidencia de la malformación de Dandy-Walker es de 1 caso/25 000 – 35 000 nacidos vivos. La malformación de Dandy- Walker es la causa de aproximadamente 1-4% de los casos de hidrocefalia; las tasas de mortalidad por la malformación alcanzan entre un 12-50%; y, asociada con otras malformaciones congénitas, constituye el 83% de la mortalidad postnatal.La malformación de Dandy-Walker ocurre más frecuentemente en mujeres que en hombres; el diagnóstico se hace con ultrasonido, resonancia magnética y Tomografía axial computarizada. El tratamiento de esta patología está basado en el manejo de la hidrocefalia.

Dandy-Walker malformation is a rare congenital disease involving the cerebellum and the fourth ventricle. This condition is characterized by agenesia or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. Approximately 70-90% of patients have hydrocephalus, which often develops postnatally. Dandy-Walker malformation may also be associated to atresia of Magendie’s foramen and, possibly, Luschka’s foramen.Dandy-Walker malformation was described by Dandy and Blackfan in 1914. Then, studies by D’Agostino in 1963 and Hart et al in 1972 defined the characteristic triad of Dandy-Walker malformation as consisting of (1) complete or partial agenesis of thevermis, (2) cystic dilatation of the fourth ventricle and, (3) an enlarged posterior fossa. This triad is typically found in association with supratentorial hydrocephalus, which should be considered a complication rather than part of the malformation complex. The incidence of Dandy-Walker malformation is 1 case/25 000-35 000 live births. Dandy-Walker malformation accounts for approximately 1-4% of hydrocephalus cases. Overall mortality rates of 12-50%, associated congenital anomalies contributed to 83% of postnatal deaths. Dandy-Walker malformation occurs more frequently in females than in males. Dandy-Walkermalformation is best diagnosed with the help of ultrasound, magnetic resonance imaging, and computerized axial tomography. The treatment for this condition is based in the management of hydrocephalus.