A late presentation of Dandy-Walker malformation and aortic coarctation.

The Dandy-Walker malformation is a rare anomaly of the posterior cranial fossa. Concomitant brain or systemic malformations are frequent and can influence the outcome. Associated cardiac congenital defects usually induce a poor prognosis. We report a case of a 58-yearold man with hydrocephalus, in whom Dandy-Walker malformation was diagnosed, for the first time, after the demonstration of aortic coarctation. This association is very rare and only a few cases have been described; moreover, to our knowledge, this is the first description of this incidence in a middle-aged patient. The characteristic of diseases and physiopathologic features are discussed, focusing attention on the rare and late clinical manifestations.

Phase-based treatment of a complex severely mentally ill case involving complex posttraumatic stress disorder and psychosis related to Dandy Walker syndrome.

UNLABELLED: For patients with comorbid complex posttraumatic stress disorder (PTSD) and psychotic disorder, trauma-focused therapy may be difficult to endure. Phase-based treatment including (a) stabilization, (b) trauma-focused therapy, and (c) integration of personality with recovery of connection appears to be the treatment of choice. OBJECTIVE: The objective of this article is to describe and evaluate the therapeutic process of a single case from a holistic perspective. METHOD: We present a case report of a 47-year-old woman treated for severe complex PTSD resulting from repeated sexual and physical abuse in early childhood and moderate psychotic symptoms stemming from Dandy Walker Syndrome with hydrocephalus. RESULTS: The patient was treated with quetiapine (600-1,000 mg) and citalopram (40 mg). Stabilization consisted of intensive psychiatric nursing care in the home and stabilizing group treatment for complex PTSD. After stabilization, the following symptom domains showed improvement: self-regulation, self-esteem, assertiveness, avoidance of social activities, and negative cognitions. However, intrusions and arousal persisted and were therefore subsequently treated with prolonged imaginary exposure that also included narrative writing assignments and a final closing ritual. This intensive multidisciplinary, phase-based approach proved effective: All symptoms of complex PTSD were in full remission. Social integration and recovery were promoted with the reduction of polypharmacy and the provision of social skills training and lifestyle training. CONCLUSION: The present case shows a phase-based treatment approach with multidisciplinary collaborative care to be effective for the treatment of a case of complex PTSD with comorbid psychotic disorder stemming from severe neurological impairment. Replication of this promising approach is therefore called for.

Oral findings and dental treatment in a patient with Dandy-Walker syndrome: a case report.

Dandy-Walker syndrome (DWS) is congenital disease characterized by hypoplasia of the cerebellum, the formation of cysts that communicate with the fourth ventricle of the posterior cranial fossa, and hydrocephalus. In addition to various other complications, cleft lip/palate, facial retrognathia, a high-arched palate, and maldentition occur at an increased frequency in patients with DWS. However, few studies have reported the dental manifestations of DWS. Herein, we report the clinical manifestations, oral findings, and dental management of a DWS patient who was treated under general anesthesia. Poor oral hygiene, gingivitis, and several congenital dental abnormalities (e.g., generalized microdontia, conical tooth, transposition, and congenitally missing teeth) were observed. This report is the first to describe the oral findings and dental treatment of DWS. Our findings emphasize the importance of a multidisciplinary approach in the diagnosis and treatment of DWS.

Neuropsychological and behavioural phenotype of Dandy-Walker variant presenting in chromosome 22 trisomy: a case study.

In this study, a case of Dandy-Walker variant syndrome associated with trisomy 22 in a 17-year-old man is described. This is the first account of this combination in a person surviving into adulthood, and the neuropsychological and behavioural presentation is described in detail and a clinical formulation is presented for the benefit of researchers and clinicians.

Regional cerebellar volumes predict functional outcome in children with cerebellar malformations.

The cerebellum has recently been recognized for its role in high-order functions, including cognition, language, and behavior. Recent studies have also begun to describe a functional topography of the mature cerebellum that includes organization on a mediolateral axis. However, no study to date has examined the relationship between regional cerebellar volume and developmental disabilities in children with cerebellar malformations. The objective of this study was to estimate the extent to which total and regional cerebellar volumes are associated with developmental disabilities in a cohort of children with cerebellar malformations. Children aged 1 to 6 years with a diagnosis of cerebellar malformation underwent standardized outcome measures and quantitative magnetic resonance scanning. The cerebellum was parcellated into seven mediolateral zones (three for each hemisphere plus the vermis) for regional volume analysis. In children with cerebellar malformations, decreased total cerebellar volume was associated with delays in global development, expressive language, cognition, as well as gross and fine motor function. Decreased volume in the right lateral cerebellar hemisphere was related to impaired cognition, expressive language, and gross motor function. Additionally, reduced vermis volume was associated with impaired global development, cognition, expressive language, and gross and fine motor skills, as well as behavior problems and a higher rate of positive autism spectrum screening test. These results begin to define the structural topography of functional outcome in children with cerebellar malformations and should lead to greater accuracy of prognostication as well as timely early developmental interventions.

Direct demonstration of Staphylococcus biofilm in an external ventricular drain in a patient with a history of recurrent ventriculoperitoneal shunt failure.

External ventricular drains (EVD) are associated with a high infection rate. Early detection of infection is frequently problematic due to a lack of clinical signs and the time period required for culturing. Bacterial biofilms have been suggested to play an important role in the infection of EVD, but direct evidence is as yet lacking. We report the case of a 17- year-old male with Dandy-Walker malformation who presented with headache, nausea and drowsiness; a CT scan revealed enlarged ventricles. The patient had a history of ventriculoperitoneal shunt revision 3 weeks prior to admission. The shunt was removed on suspicion of infection and an EVD placed. Daily surveillance cultures through the EVD were negative and the EVD was replaced on day 5. Examination of the initial EVD by confocal microscopy demonstrated clear intraluminal biofilm formation; molecular analysis by PCR identified Staphylococcus aureus resident on the catheter. To our knowledge, this is the first direct demonstration of an intraluminal biofilm compromising an EVD. Despite the presence of biofilm on this catheter, the patient demonstrated no clinical signs of infection, and the routine surveillance culture was negative. Undetected biofilm may pose a latent risk on EVD and other neurosurgical catheters.

Neurocutaneous melanosis and the Dandy-Walker complex: an uncommon but not so insignificant association.

BACKGROUND: Neurocutaneous melanosis represents a rare congenital but nonheritable phakomatosis defined as the association of giant or multiple congenital nonmalignant melanocytic nevi with leptomeningeal melanosis or melanoma of the central nervous system. METHODS: We describe the case of an adolescent with a giant congenital bathing trunk melanocytic nevus who developed progressive intracranial hypertension due to leptomeningeal melanosis confirmed by surgical biopsy. Brain and spine magnetic resonance images showed posterior fossa malformation compatible with the Dandy-Walker complex, hydrocephalus, and extensive enhancement of posterior fossa then spine. Shunt placement, corticotherapy, and chemotherapy were attempted leading to transient relief but the boy died 12 months after the onset of primary neurological symptoms. DISCUSSION: We discuss diagnosis, pathogenesis, management, and prognosis in the light of data from the recent literature. CONCLUSION: Neurocutaneous melanosis is considered to follow from neurulation disorders which could account for associated developmental malformations as the so-called Dandy-Walker complex. Cutaneous lesions are usually recognized at birth whereas neurological manifestations develop later. Numerous neurological symptoms have been reported according to extent of leptomeningeal and parenchymal infiltration. Whether magnetic resonance imaging of the neuroaxis represents the choice radiological exam, definite diagnosis relies upon the histological data obtained by mean of biopsy. Once symptomatic, surgical and medical measures remain palliative since death occurs within 3 years.

Trigeminal neuralgia: for one nerve a multitude of treatments.

Trigeminal neuralgia (TN) is reputed to be one of the most painful conditions in human experience. Thus, many treatments, both medical and surgical, have been developed for this relapsing and remitting, paroxysmal stabbing or electrical, facial pain syndrome. The likely etiology in many cases is vascular compression of the trigeminal nerve root entry zone, leading to focal demyelination and aberrant neural discharges. MRI may disclose neurovascular contact, although not with sufficient sensitivity or specificity to substitute for careful clinical diagnosis. In treating TN, antiepileptic drugs are superior to traditional analgesics. Carbamazepine is the first choice drug. Additional drugs for which there is evidence of efficacy include oxcarbazepine, baclofen, gabapentin, lamotrigine and phenytoin. Many patients eventually experience tachyphylaxis or may not tolerate effective doses. Surgical options include: microvascular decompression; balloon compression; radiofrequency thermocoagulation or glycerol rhizotomies; and subcutaneous alcohol branch blockade. Stereotactic gamma knife radiosurgery is a further option. Motor cortex stimulation and transcranial magnetic stimulation, although having shown initial promise for trigeminal neuropathic pain, seem to be ineffective for classical TN. The choice of drug, whether or when to operate, and which procedure to choose should be individualized to the particular needs and conditions of the patient.

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.

Cerebral vasospasm in shunt infection.

OBJECTIVE: In bacterial shunt infection, CNS inflammation is a frequently observed complication that may cause vascular complications including vasospasms. Here, we describe the first patient with shunt infection-induced cerebral vasospasms. METHODS: A 35 year old woman with a ventriculoperitoneal shunt that was implanted years before developed facial nerve palsy and somnolence one week before admission to the hospital. RESULTS: After admission, the shunt was removed, and an external ventricular drainage was inserted. Microbiological analyses revealed coagulase-negative Staphylococcus on abdominal and cranial catheters. Follow-up NMR showed infarctions. Transcranial doppler sonography and cerebral arteriography revealed severe generalized cerebral vasospasms. Inspite of triple-H therapy and intraarterial spasmolysis, bilateral anterior and media artery infarction evolved. The patient was dismissed in a vegetative state. CONCLUSIONS: This case shows that severe cerebral vasospasms are a serious complication in patients with bacterial shunt infection that should be considered in patients, that don't improve following adequate antibiotic treatment.

Treatment options for Dandy-Walker malformation.

OBJECT: The aim of this study was to assess the efficacy of various treatment options available for children with Dandy-Walker malformation (DWM) and to evaluate the role of endoscopic procedures in the treatment of this disorder. METHODS: The authors conducted a retrospective review of 72 children who underwent surgical treatment for DWM during a 16-year period. All patients underwent computed tomography scanning, and 26 underwent magnetic resonance (MR) imaging. The initial surgical treatment included ventriculoperitoneal (VP) shunt placement in 21 patients, cystoperitoneal (CP) shunt placement in 24, and combined VP and CP shunt insertion in three. Twenty-one patients underwent endoscopic procedures (endoscopic third ventriculostomy [ETV] alone in 16 patients, ETV with aqueductal stent placement in three, and ETV with fenestration of the occluding membrane in two). Three patients underwent membrane excision via a posterior fossa craniectomy. In the 26 patients who had undergone preoperative MR imaging, aqueductal patency was noted in 23 and aqueductal obstruction in three. These three patients underwent placement of a stent from the third ventricle to the posterior fossa cyst in addition to the ETV procedure. During the follow-up period, 12 patients with a CP shunt and four with a VP shunt experienced shunt malfunctions that required revision. Four patients with a CP shunt also required placement of a VP shunt. In addition, five of the 21 ETVs failed, requiring VP shunt insertion. A reduction in ventricle size noted on postoperative images occurred more frequently in patients with a VP shunt, whereas a reduction in cyst size was more appreciable in patients with a CP shunt. Successful ETV resulted in a slight decrease in ventricle size and varying degrees of reduction in cyst size. CONCLUSIONS: Endoscopic procedures may be considered an acceptable alternative in children with DWM. The authors propose a treatment protocol based on preoperative MR imaging findings of associated aqueductal stenosis.

Complejo de Dandy Walker, experiencia en el Centro de Referencia Perinatal Oriente / Dandy-Walker complex: the experience of Centro de Referencia Perinatal Oriente

La malformación de Dandy Walker es una anomalía congénita caracterizada por un ensanchamiento quístico del cuarto ventrículo e hipoplasia o agenesia del vermis cerebeloso, que secundariamente produce hidrocefalia congénita e hipertensión intracraneal. La tríada característica para establecer el diagnóstico consiste en hidrocefalia, ausencia de vermis cerebeloso y quiste de la fosa posterior con comunicación con el cuarto ventrículo. Actualmente se han descrito tres variantes de esta malformación: Malformación Clásica de Dandy Walker (SDW), Hipoplasia vermis cerebeloso, y dilatación de cisterna magna (CMD). Se revisaron todos los casos de malformación de Dandy Walker controlados en Centro de Referencia Perinatal Oriente (CERPO) entre abril 2003 y septiembre 2006. Se controlaron once casos durante este período, diez de ellos con diagnóstico prenatal de alguna de las variantes de Dandy Walker (ocho casos de CMD y dos casos de SDW) y un caso con diagnóstico prenatal de agenesia del cuerpo calloso, diagnosticándose postnatalmente síndrome de Dandy Walker. A estas pacientes se les manejó en CERPO mediante seguimiento ultrasonográfico, cordocentesis para estudio de cariograma fetal, ecocardiografía, resonancia magnética fetal, consejería y apoyo psicológico. No se encontró asociación con los factores de riesgo descritos en la bibliografía. Sólo existe en un caso el antecedente de consanguinidad paterna y otro caso con antecedente de prima en primer grado materna con síndrome de Down. Destaca la alta asociación con aneuploidías (siete de los once casos, 64 por ciento): cinco casos de trisomías 18 (71 por ciento), una trisomía 21 y una translocación 6-13. Hay una alta tasa de mortalidad tanto pre como postnatal (46 por ciento), falleciendo cinco de los once casos durante la gestación o el primer año de vida. Ninguno de los casos ha requerido de manejo quirúrgico postnatal. Sólo tres casos (24 por ciento) no presentaron otra malformación asociada, todos con diagnóstico...

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.

Nonmidline yolk sac tumour of the head and neck region in an infant with Dandy Walker syndrome--case report and review of literature.

Germ cell neoplasms are among the most commonly observed tumors in the pediatric age group. However, yolk sac tumors, which form a common subtype occur rarely in the head and neck region. In this paper we share our experience of one such rare case and review the literature about this condition.

Disorders of the central nervous system.

In this article, we have reviewed the most common CNS abnormalities seen in perinatal medicine. The prognosis in ventriculomegaly is most closely related to the presence or absence of associated anomalies. The current treatment for DWM consists of shunting of either the posterior fossa cyst or lateral ventricles. Facial abnormalities can frequently aid in distinguishing holoprosencephaly from other CNS lesions. Anencephaly is one of the most severe fetal anomalies and is incompatible with life. Spina bifida represents a spectrum of NTDs with a variable outcome depending on the size and location of the defect, as well as the presence of other anomalies.

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.

[Dandy-Walker complex with multiple anomalies: report of one case].

A 3570 gram male newborn was born to a 29-year-old mother at the gestational age of 40 weeks with gross abnormalities of flexion contracture of third and fifth fingers and fourth toes bilaterally. After birth, cyanotic spell while feeding was found, and a series of examinations were done. The abnormalities were focused on brain echogram, computed tomogram and magnetic resonance imaging examination, which showed a large posterior fossa cyst, cerebellar hypoplasia complicated with multiple severe supratentorial anomalies, including marked ventricular dilatation, cerebral agyria, agenesis of corpus callosum, absence of thalamus and basal ganglion, and optic nerve atrophy. Clinically, the patient had neonatal seizure and high fever. The diagnosis of Dandy-Walker complex type A was made according to the new classification presented by Barkovick et al. in 1989.

Difficulties in diagnosing congenital posterior fossa fluid collections after shunting procedures.

The differential diagnosis of retrocerebellar fluid collections in infants is important because of the prognostic implications. Usually the diagnoses are easy; however, shunting of the lateral ventricles or of the fluid collections may alter the appearance of the lesions, precluding accurate diagnosis. Under such circumstances a careful study of all the sequential radiologic studies is necessary.

Eosinophilia in the cerebrospinal fluid of children with shunts implanted for the treatment of internal hydrocephalus.

Cerebrospinal fluid (CSF) eosinophilia was observed in 26 of 404 children after the implantation of shunts for the treatment of internal hydrocephalus. High levels of 65% and 78% were recorded in two cases, which are reported in detail. In the remaining 24 cases, CSF eosinophilia ranging between 1% and 3% was found. None of the cases with CSF eosinophilia had blood eosinophilia. The cases indicate that a reaction to the material used for the shunt should be considered along with possible parasitic infestations in patients with such findings.