Management and Outcome of a Neurologically Intact Infant with Pierre Robin Sequence and Dandy-Walker Variant Diagnosed with Large Hemispheric Brain Abscess ­ Case Report

Pierre Robin sequence (PRS) is a condition consisting of three essential components: micrognathia or retrognathia, cleft palate, and glossoptosis. It can be part of multiple congenital anomalies. We present the case and outcome of a 3-month-old clinically stable patient who has PRS with Dandy-Walker variant ­ which is a rare presentation in the literature ­ with a large right hemispheric brain abscess, treated with multiple minimally-invasive surgical drainage procedures with adjuvant antibiotics.

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.

Síndrome PHACES: comunicación de un caso con compromiso hepático e intestinal / PHACES syndrome: a report of a case with liver and intestinal involvement

El síndrome PHACES representa un espectro de anormalidades: malformaciones de la fosa posterior, hemangiomas segmentarios, anomalías vasculares, cardíacas, oculares y hendidura esternal o rafe supraumbilical, asociado también a hemangiomatosis extracutánea.Comunicamos el caso de una paciente de 4 meses de edad, con un hemangioma segmentario gigante en la hemicara izquierda, además de la presencia de una malformación de Dandy-Walker, malformación cardiovascular, hendidura esternal e hipotiroidismo.También tenía un hemangioma en el hígado y otras lesiones vasculares en el intestino.

PHACES syndrome represents a spectrum of anomalies such as posterior fossa malformations, segmental hemangiomas, vascular and cardiac abnormalities, eye abnormalities and sternal cleft or raphe supraumbilical, hemangiomatosis extracutánea. We present a 4 months of age female, who presented a segmental giant hemangioma in the left hemiface with Dandy-Walker malformation, cardiovascular malformation, sternal cleft and hypothyroidism, who also presented an hemangioma in the liver and other vascular lesions in the intestine.

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

Genetic analysis of two cases with Dandy-Walker deformed fetus / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the genetic etiology of two fetuses with Dandy-Walker malformation using single nucleotide polymorphism microarray (SNP-array).</p><p><b>METHODS</b>The fetuses and their parents were subjected to G banding karyotype analysis. The fetuses were also subjected to SNP-array analysis.</p><p><b>RESULTS</b>The parents of both fetuses showed a normal karyotype. One fetus has a 46,X,?i(X)(q10), while for another conventional cell culture has failed. SNP-array showed that one fetus carried a 6p25.3p25.2 microdeletion, and another carried a Xp22.33p22.2 deletion and a Yq11.221q11 duplication. The abnormal fragments have involved FOXC1, SHOX and STS genes, which are associated with Dandy-Walker malformation.</p><p><b>CONCLUSION</b>Alteration of 6p25.3p25.2, Xp22.33p22.2 copy numbers probably underlies the Dandy-Walker syndrome in the fetuses. The disorder may be attributed to abnormal expression of FOXC1, SHOX, and STS genes. SNP-array can provide an important supplement for prenatal diagnosis.</p>

Variante de Dandy Walker: reporte de un caso / Dandy-Walker variant: Case report

Introducción: La variante de Dandy Walker se define como una hipoplasia variable del vermis cerebeloso, con o sin aumento de la fosa posterior y sin elevación del tentorio. Objetivo: Describir el caso de una enfermedad poco frecuente y hacer énfasis en la necesidad de precisar la etiología de malformaciones prenatales en niños que son clasificados erróneamente como parálisis cerebral secundaria a asfixia, así como su manejo multidisciplinario. Caso clínico: Paciente varón, de 8 años de edad, con antecedentes de parálisis cerebral infantil, epilepsia y retraso del desarrollo, que fue ingresado por historia de convulsiones tónico-clónicas. Durante su hospitalización presentó múltiples episodios convulsivos, controlados con anticonvulsivantes. Se realizó tomografía computarizada, observándose comunicación entre la cisterna magna y el cuarto ventrículo; este último aumentado de tamaño. Además, el vermis del cerebelo presentaba hipoplasia parcial, siendo estos hallazgos compatibles con una variante del síndrome Dandy Walker. Conclusión: La variante de Dandy Walker puede ser sintomática o asintomática, y las imágenes encontradas no necesariamente se relacionan con las alteraciones del desarrollo, debido a los múltiples síndromes y alteraciones cromosómicas vinculadas a este cuadro. La presentación clínica y el pronóstico dependen de las alteraciones presentes. Por ello, es importante un manejo multidisciplinario considerando que el tratamiento depende de los síntomas presentados.

Introduction: Dandy Walker variant is defined by a variable hypoplasia of the cerebellar vermix with or without posterior fossa increase and without tentorium elevation. Objective: describe the case of a rare disease and emphasise the need to clarify the aetiology of prenatal malformations, as well as its multidisciplinary management. Case report: A male patient, 8 years of age, with a history of Infantile Cerebral Palsy and epilepsy, who was admitted with a history of tonic-clonic seizures. He was admitted due to psycho-motor developmental delay. During his hospitalisation, he had multiple seizure episodes, controlled with anticonvulsants. A computerized tomography was performed, in which communication was observed between the cisterna magna and fourth ventricle (the latter increased in size). In addition, the cerebellar vermix showed a partial hypoplasia. All these findings were compatible with a variant of the Dandy Walker syndrome. Conclusion: Dandy Walker variant may be asymptomatic and the images found may not indicate them as the cause of developmental disorders, due to its association with multiple syndromes and chromosomal abnormalities. Clinical presentation and prognosis depends on the related disorders, and a multidisciplinary approach is important, because the treatment depends on the symptoms presented.

Aplasia of the Internal Carotid Artery with Dandy-Walker Variant

No abstract available.

Perioperative management of a patient with Dandy Walker malformation with tetralogy of Fallot undergoing total correction and fresh homologous pericardial pulmonary valve conduit implantation: Report of a rare case.

Perioperative management of a patient with Dandy–Walker malformation (DWM) with tetralogy of Fallot (TOF), patent ductus arteriosus, and pulmonary artery stenosis is a great challenge to the anesthesiologist. Anesthetic management in such patients can trigger tet spells that might rapidly increase intracranial pressure (ICP), conning and even death. The increase in ICP can precipitate tet spells and further brain hypoxia. To avoid an increase in ICP during TOF corrective surgery ventriculo‑peritoneal (VP) shunt should be performed before cardiac surgery. We present the first case report of a 11‑month‑old male baby afflicted with DWM and TOF who underwent successful TOF total corrective surgery and fresh autologous pericardial pulmonary valve conduit implantation under cardiopulmonary bypass after 1 week of VP shunt insertion.

Dandy Walker: reporte de un caso / Dandy Walker: case report

Introducción: la malformación de Dandy­Walker 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 alargamiento de la fosa posterior. Aproximadamente el 80% de los pacientes presenta hidrocefalia. La triada característica de la malformación de Dandy-Walker que consiste: agenesia parcial o completa del vermis, dilatación quística del cuarto ventrículo y alargamiento de la fosa posterior. El diagnóstico prenatal es preferible realizarlo luego de las 18 semanas, el postnatal se hace con ultrasonido transfontanelar, resonancia magnética y tomografía axial computarizada. El tratamiento de esta patología está basado en el manejo de la hidrocefalia. 1 Caso: a continuación presentamos un caso clínico de Dandy Walker de la Unidad de Medicina Materno Fetal del Hospital Carlos Andrade Marín de Quito.

Introduction: 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 80% of patients have hydrocephalus. Dandy-Walker malformation was described by Dandy and Blackfan in 1914. The characteristic triad of Dandy-Walker malformation is consisting of complete or partial agenesis of the vermis, cystic dilatation of the fourth ventricle and an enlarged posterior fossa. The prenatal diagnosis of Dandy-Walker malformation is better after 18 weeks of gestation. After birth it is best diagnosed with the help of transfontanelar ultrasound, magnetic resonance imaging, and computerized axial tomography. The treatment for this condition is based in the management of hydrocephalus. 1 Case: below is a case report of Dandy Walker at the Maternal Fetal Medical Unit of the Carlos Andrade Marin Hospital in Quito.

Lipodistrofia congénita generalizada en un paciente con anomalía de Dandy Walker / Congenital generalized lipodystrophy in pacient with Dandy Walker anomaly

La asociación entre la lipodistrofia congénita generalizada y la anomalía de Dandy Walker no es habitual. Se reporta el caso de una niña de 1 año de edad que ingresa al hospital a los 4 meses por riesgo social, con diagnóstico de anomalía de Dandy Walker. Durante su internación, se evidencia en forma progresiva aspecto acromegaloide, facies triangular, hirsutismo, lipoatrofia, hipertrofia muscular, clitoromegalia, distensión abdominal con hepatomegalia progresiva e hpertrigliceridernia. Se arriba así al diagnóstico clínico de lipodistrofia congénita generalizada. Se revisan los aspectos clínicos y el seguimiento interdisciplinario para la detección oportuna de insulinorresistencia y diabetes, pubertad precoz, miocardiopatía, entre otras. Respecto de la anomalía de Dandy Walker, se realizan controles evolutivos en búsqueda de la aparición de signos de hipertensión endocraneana. Por el carácter autosómico recesivo de la lipodistrofia congénita generalizada, es importante realizar el asesoramiento genético a los padres.

The objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. This led to the clinical diagnosis of congenital generalized lipodystrophy. Importance shouldbe given to the examination of clinical aspects as well as the interdisciplinary follow-up for proper detection of insulin resistance and diabetes, early puberty, cardiomyopathy, among others. In case of Dandy Walker anomaly, it should be checked the evolution to search intracranial hypertension signs. Due to its autosomal recessive nature, it is important to provide genetic counseling to the parents.

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...

Nevomatosis melanocítica neurocutánea. Un caso asociado a síndrome de Dandy Walker, melanoma y espina bífida / Neurocutaneous melanocytic nevomatosis. A case associated to Dandy-Walker syndrome, melanoma and spina bifida

La nevomatosis melanocítica neurocutánea (NMN) es una rara alteración congénita en la cual se observa proliferación de melanocitos en la piel y en el sistema nervioso central. La presencia de un nevo melanocítico congénito gigante en eje axial posterior y múltiples nevos melanocíticos más pequeños alerta sobre la posibilidad de esta patología. Cuandola NMN es sintomática el pronóstico es malo. Comentamos el caso de un paciente con un nevo melanocítico congénito gigante (NMCG) y múltiples nevos de mediano y pequeño tamaño, en asociación con un síndrome de Dandy Walker y espina bífida. El paciente fallece debido al desarrollo de melanoma cerebral con metástasis diseminadas...

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.

Schizophrenia-Like Psychosis and Dandy-Walker Variant Comorbidity: Case Report

Dandy-Walker variant is a developmental malformation consisting of cerebellar hypoplasia and cystic dilatation of the fourth ventricle. Previous research has proposed a possible role for the cerebellum in cognition and in schizophrenia. In this paper we report a schizophrenia-like psychotic disorder in a 30 year-old woman with Dandy-Walker variant. The patient was treated with risperidone 6 mg/day, biperiden 4 mg/day and risperidone depot 50 mg injections fortnightly, and most of the symptoms were ameliorated within 2 months. The similar cognitive profile to populations with cerebellar pathology and rarity of the condition strongly suggests that there may be direct relationship between cerebellar pathology and appearence of psychotic symptoms.

Dandy Walker Variant and Bipolar I Disorder with Graphomania

Cerebellum is known to play an important role in coordination and motor functions. In some resent studies it is also considered to be involved in modulation of mood, cognition and psychiatric disorders. Dandy Walker Malformation is a congenital malformation that is characterized by hypoplasia or aplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle and enlargement of the posterior fossa. When the volume of posterior fossa is normal, the malformation is called Dandy Walker Variant. Case is a 32 year old male with a 12 year history of Bipolar I Disorder presented with manic and depresive symptoms, including dysphoric and depressive affect, anhedonia, suicidal thoughts and behaviours, thoughts of fear about future, overtalkativeness and graphomania, increased energy, irregular sleep, loss of appetite, increased immersion in projects, irritability, agressive behavior, impulsivity. Cranial Magnetic Resonance Imaging was compatible to the morphological features of Dandy Walker Variant.

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.

Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case.

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4th week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).

Impulsive Behavior and Recurrent Major Depression Associated with Dandy-Walker Variant

Reported herein is a case of recurrent major depression with impulse control difficulty in a 33-year-old man with Dandy-Walker variant. He was diagnosed as having major depressive disorder a year before he presented himself to the authors' hospital, and had a history of three-time admission to a psychiatric unit in the previous 12 months. He was readmitted and treated with sodium valporate 1,500 mg/day, mirtazapine 45 mg/day, and quetiapine 800 mg/day during the three months that he was confined in the authors' hospital, and the symptoms were reduced within three months but remained thereafter. This is the only case so far reporting recurrent depression with impulse control difficulty associated with Dandy-Walker variant. This case implies that any cerebellar lesion may cause the appearance of recurrent depression with impulse control difficulty in major depressive disorder.