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.

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.

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.

Dandy-Walker Malformation with Refractory Epilepsy: Role of Radionuclide Scintigraphy in Assessing Ventriculo-Peritoneal Shunt Patency

@#Dandy-Walker malformation (DWM) is an uncommon congenital anomaly characterised by enlarged posterior fossa involving the cerebellum and fourth ventricle. Most of DWM patients with hydrocephalus require ventriculo-peritoneal shunt (VPS) especially in those with symptoms such as headache and seizures. In cases with worsening hydrocephalus although on VPS, computed tomography and magnetic resonance imaging can be performed to assess ventricular sizes, and an obstructed shunt may be confirmed with iodinated contrast media injection into shunt reservoir under fluoroscopy guidance. VPS scintigraphy is one of infrequently performed nuclear imaging studies that has the capability to assess shunt patency and detect site of blockage with minimal radiation exposure. We describe here a 32-year-old lady with underlying DWM and hydrocephalus on VPS complicated by refractory epilepsy. Radionuclide scintigraphy has proven to be a safe, simple and useful tool in evaluating shunt function and localising the site of VPS obstruction in this patient.

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.

Sindrome de Joubert asociado a malformación de Dandy-Walker en un paciente pediátrico: Reporte de un caso / Joubert syndrome associated with Dandy-Walker malformation in a pediatric patient: a case report

Se presenta el caso de una niña de 10 meses de edad que desde el nacimiento experimentó apnea e hiperpnea, hipotonía y nistagmus. Durante sus primeros meses de vida presentó además insuficiencia renal, retraso psicomotor e infecciones severas. Se diagnosticó de síndrome de Joubert asociado a malformación de Dandy-Walker y en la prueba de resonancia magnética se observó el típico signo de "Diente Molar" característicamente asociado al quiste. La asociación infrecuente de este tipo de malformaciones cerebrales agrava ciertamente el pronóstico del cuadro original.

The case of a 10-month-old girl with apnea and hyperpnea, hypotonia and nystagmus from the time of birth, is presented. During her first months of life she presented additional manifestations of renal failure, psychomotor retardation and severe infections. The diagnosis of Joubert syndrome associated with Dandy-Walker Malformation was formulated, and the typical "Molar Tooth" sign, characteristically associated with the cyst characteristics was detected with magnetic resonance imaging tests. The uncommon association of these brain malformations that worsen the prognosis, is discussed.

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 .

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.

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.

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.

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.

The value of quantitatively fetal brainstem-vermis and brainstem-tentorium angles evaluation by three-dimensional ultrasonography / 中华医学超声杂志（电子版）

Objective To evaluate the role of fetal brainstem-vermis (BV) and brainstem-tentorium (BT) angles in differential diagnosis of fetal cereballar vermis anomalies by three-dimensional ultrasonography. Methods A total of 335 normally developed fetuses at 18-34 gestational weeks were examined prospectively in Prenatal Ultrasound Center of Suzhou Municipal Hospital from July 2013 to July 2014 by three-dimensional ultrasonography scanning. The BV angles and BT angles were measured at the mid-sagittal sections of fetal heads which were obtained by three-dimensional ultrasonography. Sixteen fetuses with abnormal cerebellar vermis were selected. The BV angles and BT angles were measured and compared with the measurements of normal group. Results In normal fetuses, the mean of BV angles was (3.3±1.7)° , ranging from1.0 to 10.0°;the mean BT angle was (31.5±6.9)° , and ranging from 16.6 to 57.8° . In 16 cases of abnormal cerebellar vermis, 4 cases of Dandy-Walker Malformation (DWM) showed significantly upward rotated cerebellar vermises, the BV angles increased significantly (88.9±18.1)° , the cerebellar tentoriums were superior displaced, the BT angles increased remarkably (89.0±12.8) ° ;6 cases of Dandy-Walker variant (DWV) showed upward rotated cerebellar vermises, with increased BV angles (23.7±5.2) ° , and slightly increased BT angles (54.5±12.0)°;6 cases of Blake′s pouch cyst (BPC) showed upward rotated cerebellar vermises were, mildly increased BV angles (16.7±1.8)° , and slightly increased BT angles (50.3±8.2)° . The comparison results showed:BV angles increased with increasing severity of the condition in BPC, DWV and DWM;BT angles increased significantly in DWM. Conclusions The measurements of BV angles and BT angles are valuable in the differential diagnosis of fetal cereballar vermis anomalies. From 19 gestational weeks, a BV angle>60° is strongly suggestive of a Dandy-Walker malformation, while a measurement>10.0° and<20° favors the diagnosis of Blake′s pouch cyst.

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.

Dandy Walker variant mimicking as cerebral palsy with severe neurological impairment.

Dandy Walker Variant (DWV) is a less severe form of the spectrum of Dandy Walker Malformation (DWM). The DWM is a rare congenital intracranial posterior fossa malformation comprising cystic dilatation of the fourth ventricle, complete or partial agenesis of the cerebellar vermis and an enlarged posterior fossa. Clinically it presents with variable degrees of neurological impairment. Definitive diagnosis of DWM or DWV depends on neuroimaging as most of the clinical signs are not conclusive. This child was clinically suspected as spastic quadriplegic cerebral palsy had incidental finding of DWV on neuroimaging. Hence a definitive diagnosis of DWV was made by MRI in this case. Here we discuss the clinical and radiological aspects of this case with DWV without other associated anomalies yet presenting with clinically significant neurological impairment.

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...

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.

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.