Algunos desafíos en mucopolisacaridosis tipo I / A few challenges in mucopolysaccharidosis type I

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care

A few challenges in mucopolysaccharidosis type I. / Algunos desafíos en mucopolisacaridosis tipo I.

Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.

Se describen como desafíos actuales en mucopolisacaridosis I la necesidad de una clasificación adecuada, vinculándola a las indicaciones terapéuticas; el diagnóstico temprano desde la pesquisa neonatal, sus ventajas y dificultades hasta la sospecha clínica de las formas grave y atenuada; el cuidado de la patología espinal y oftalmológica, desde el diagnóstico, el seguimiento y el tratamiento; las reacciones alérgicas por terapia de reemplazo enzimático, su diagnóstico y tratamiento. Por último, la transición hacia el cuidado adulto.

Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I / New recommendations for the care of patients with mucopolysaccharidosis type I

Dados los avances sobre mucopolisacaridosis Icon posterioridad al consenso publicado en la Argentina por un grupo de expertos en 2008, se revisan recomendaciones respecto a estudios genéticos, seguimiento cardiológico, cuidado de la vía aérea, alertas sobre aspectos auditivos, de la patología espinal y neurológica. Se hace revisión de la terapéutica actual y se enfatiza en la necesidad de un diagnóstico y tratamiento precoces, así como de un seguimiento interdisciplinario

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up

New recommendations for the care of patients with mucopolysaccharidosis type I. / Nuevas recomendaciones para el cuidado de los pacientes con mucopolisacaridosis tipo I.

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up.

Dados los avances sobre mucopolisacaridosis I con posterioridad al consenso publicado en la Argentina por un grupo de expertos en 2008, se revisan recomendaciones respecto a estudios genéticos, seguimiento cardiológico, cuidado de la vía aérea, alertas sobre aspectos auditivos, de la patología espinal y neurológica. Se hace revisión de la terapéutica actual y se enfatiza en la necesidad de un diagnóstico y tratamiento precoces, así como de un seguimiento interdisciplinario.

Aspectos neuroquirúrgicos de las mucopolisacaridosis / Neurosurgical aspects of mucopolysaccharidoses

Mucopolisacaridosis es una rara enfermedad que afecta al metabolismo de los mucopolisacaridos debida a la ausencia o deficiencia de las enzimas encargadas de su síntesis lo que produce depósitos de aminoglucósidos en casi todos los tejidos del organismo. De acuerdo a la enzima faltante se clasifican los distintos tipos de la enfermedad, siendo más frecuente el Tipo I con sus tres variantes: Hurler, Hurler-Sheie y Sheie de distinta gravedad y tratamiento. Al nacimiento el niño no presenta síntomas, éstos van apareciendo a partir del año de vida: retardo físico y mental, múltiples deformidades esqueléticas, hepatoesplenomegalia, sordera, opacidades corneanas, entre otras. La intervención neuroquirúrgica en esta entidad es en dos patologías: la hidrocefalia, que al no presentar los signos clásicos de hipertensión endocraneana puede ser confundida con atrofia y la compresión medular cervical por los depósitos de mucopolisacáridos en vértebras, ligamentos y leptomeninges.

Mucopolysaccharidosis is a rare illness that involves the metabolism of mucopolysaccharides, that due to the absence or deficiency of corresponding enzymes, accumulate in almost all the tissues of the body. According to which enzyme is missing, different types of the disease have been identified; the most frequent being Type I with its three variants: Hurler, Hurler-Sheie, and Sheie. Symptoms of this disorder progress and range from mental and physical retardation, multiple skeletal deformities, hepatosplenomegaly, deafness, and corneal opacities among others. Children affected usually appear normal at birth and the slowness in their development may be the first evidence of the disorder whose progression is downhill. Neurosurgical intervention occurs in two pathologies: hydrocephalus that does not show signs of intracranial hypertension and can be confused with atrophy, and cervical cord compression due to storage of mucopolysaccharides in vertebrae, ligaments, and leptomeninges.

Why fetal neurosurgery?

Introduction to the Special Focus Session on Fetal Neurosurgery.

Neurovascular stents in pediatric population.

PURPOSE: The purpose of the study is to analyze the results obtained using stents for the treatment of neurovascular diseases in pediatric patients. METHODS: A retrospective study of 6-year period was undertaken evaluating clinical charts and imaging studies of patients treated with stents because of neurovascular diseases. RESULTS: Nine patients were managed with 10 stents. Seven children were females. The median age was 11 years. There were four cases of broad neck cerebral aneurysms, a pseudoaneurysm of the cervical internal carotid artery, a vertebro-jugular fistula, two patients with internal carotid artery (ICA) stenosis affecting the cervical and supraclinoid segment, and a vertebral artery dissection. The only complication was a silent posterior communicating artery (PCoA) thrombosis in a PCoA aneurysm treated with two stents. Dual antiplatelet therapy was given after the procedure to avoid in stent thrombosis. CONCLUSION: Stents are safe and effective for treatment of neurovascular diseases in children, but studies are needed in order to protocolize the use of antiplatelet drugs in children.

Intracranial gliofibroma: a case report and review of the literature.

Gliofibroma is a rare tumor with biphasic morphology, commonly occurring in the first two decades of life. Currently, the tumor is not listed as a distinct entity in the current World Health Organization (WHO) classification of central nervous system tumors. As its biological behavior, histogenesis, and prognostic factors are still debated, the aim of this paper was to describe a case of a gliofibroma and to update the data about these lesions. Hence, we present here clinical symptoms, pathological findings, and evolution observed in a child with gliofibroma. A 10-year-old girl with seizures was referred for study. Neuroimaging showed a hemispheric hyperdense tumor with little peritumoral edema and no mass effect. The tumor was totally removed. Histologically, the tumor consisted of a mixture of glial cells and collagen-rich stroma. Immunohistochemical examination revealed positive staining for GFAP, CD 99, S100, and vimentin. EMA staining showed a paranuclear dot pattern in only few cells in isolated areas. These findings of a glial component with collagenous stroma were consistent with a desmoplastic glioma. Because of the rarity of this entity, we believe it is important to report every case in order to adequately analyze and categorize the tumor in the next WHO classification.

Endovascular treatment of post-pharyngitis internal carotid artery pseudoaneurysm with a covered stent in a child: a case report.

CASE REPORT: We report a case of 4-year-old boy patient, who developed after a streptococcal pharyngitis a painful, pulsatile, and growing right-sided mass in the neck. Imaging studies revealed an extracranial right internal carotid artery pseudoaneurysm. The patient was successfully treated with stent-graft deployment. After 18 months of follow-up, the pseudoaneurysm is excluded from the circulation, the carotid artery is patent, and the patient is free from any neurological deficit. DISCUSSION: Covered stents might be considered as a valid therapeutic option to treat carotid artery pseudoaneurysms.

Simultaneous fronto-orbital advancement and dynamic posterior cranial vault expansion in Apert syndrome.

Craniosynostosis in Apert syndrome is routinely treated by wide frontal and bilateral supraorbital reshaping and posterior cranial decompression. Dynamic cranial vault expansion has proved to be useful in craniofacial surgery, and its use has extended to syndromic patients. Although a controversy remains between conventional osteotomy and application of the spring-mediated technique in surgical treatment of craniosynostosis, there have been several positive clinical reports on expansion techniques for nonsyndromic and syndromic craniosynostosis. Simultaneous fronto-orbital advancement and posterior cranial vault expansion have been applied successfully to 2 patients of Apert syndrome, without intraoperative complications or postoperative morbidity and improving final cranial shape.

Multiloculated hydrocephalus.

OBJECTIVE: The study aims to assess the treatment of progressive multiloculated hydrocephalus. In a retrospective study, the authors reviewed their experience with different treatment modalities. METHODS: We have retrospectively evaluated 93 patients with progressive multiloculated hydrocephalus operated between 1988 and 2010. They represented around 2% (93/4,565) of all patients surgically treated for nontumoral hydrocephalus during this period of time at our institution. RESULTS: Ventricular septal fenestration was carried out by craniotomy in 27 patients, endoscopic septum pellucidum fenestration in 19, endoscopic ventricular septal fenestration in 18, choroid plexectomy-fulguration in 14 (8 endoscopically and 6 by craniotomy), and third ventriculostomy in 2. Hydrocephalus was resolved in 21 patients with shunting, placing two ventricular catheters as the only procedure. Out of the 72 remaining patients, 34 underwent only one treatment, 30 two treatments, and 8 three or more procedures. The majority of patients ultimately required CSF shunt placement with only one ventricular catheter. CONCLUSIONS: (1) Multiloculated hydrocephalus is a severe disease in which no single treatment has clearly been shown to be superior. (2) The goal of treatment is to restore communication between isolated intraventricular compartments in order to create the possibility of the implantation of a simple shunt with only one intraventricular catheter. More than improving the quality of life the patient, the objective is to reduce the number of surgical procedures. (3) Given the complexity of multiloculated hydrocephalus, each patient must be studied individually, and no procedure proposed by the literature should be ruled out, no matter how old fashioned may appear.

Metástasis supratentorial de meduloblastoma de fosa posterior / Supratentorial metastasis of P-fosa medulloblastoma

Objective: our objective is to analyze the patients that presented supratentorial metastases. Material and methods: we studied 170 patients with medulloblastoma from the year 1991 to 2005. Twenty seven presentedsupratentorial metastases. We considered age at presentation, pathology, staging, dissemination to other places and outcome. Results: twenty seven patients (15,8%) with medulloblastoma presented supratentorial metastases, the average age was 5,87 years range from 3 to 11 years. 13/27 were staged high risk and 14/27 standard. The average time between surgery and presence of recurrence was 12,65 month. 12/27 presented desmoplasia. 25/27 patients died. Conclusion: 15,8% of patients with medulloblastoma presented supratentorial metastases before 16 months of the first surgery. Allthe patients were younger than 12 years. The appearance of supratentorial metastases is not related with the stage or the presence of desmoplasia. The outcome was unfavorable once the dissemination was diagnosed.

Fistulas piales cerebrales en pediatría / Pial shunts in pediatric patients

Objective: to analyze our experience in brain pial arteriovenous fistulae in paediatric patients and review the modern concepts about this pathology.Materials and method: between 2004 and 2011, 6 cases of pial arteriovenous fistulae were diagnosed and treated at the National Hospital of paediatrics “Juan P.Garrahan”, defining them as arteriovenous malformations with one or more arterial connections with one single venous drainage, without interposed nidus. We reviewed the medical records and neuroimaging. The main method for diagnosis was cerebral angiography. Results: there were 4 male and 2 female patients, ages ranging from 1 month to 14 years old. 3patients presented brain hemorrhage, 2 had seizures as the initial symptom, and one was diagnosed because of his congenital hydrocephalus. 2 were treated with open surgery and 4 with embolisation. There were no important complications or rebleeding. Conclusion: brain pial fistulas are infrequent vascular malformations important for their high risk of bleeding and relative frequency in paediatrics. The management of these patients needs a multidisciplinary team for analysis, discussion, choosing the most suitable treatment, and follow up.

Aneurismas cerebrales en la infancia: un solo nombre para diferentes enfermedades / Cerebral aneurysms in infancy: a name for different diseases

Objetivo. Resaltar la heterogeneidad de los aneurismas cerebrales en la población pediátrica. Material y método. 19 pacientes con 20 aneurismas intracraneanos fueron tratados en nuestro Hospital en los ultimos 6 años.Resultados. La edad media fue de 12 años (rango 10 meses a 17 años). 65 %de los aneurismas fueron saculares, 25% fusiformes, hubo un aneurisma infeccioso y otro lenticuloestriado distal. Los pacientes con aneurismas saculares fueron predominantemente varones y se manifestaron más comúnmente con hemorragia intracraneana (92%). Los aneurismas fusiformes se originaron posteriormente a una disección o fueron crónicos con trombo mural y ejerciendo efecto de masa. La terapéutica fue diferente según el tipo aneurismático. Conclusión. Los aneurismas pediátricos son un grupo heterogéneo de enfermedades arteriales intracraneanas con manifestaciones clínicas, morfología y terapéutica diferentes.(AU)

Aneurismas experimentales en conejos por angioplastia con balón / Experimental aneurysms in rabbits by ballon angioplasty

Objetive. To perform a new model of experimental aneurysms in rabbits and to achieve a training in basic endovascular techniques. Material and method. We introduce a new aneurysm model in rabbits. First we performed a balloon angioplasty in the right carotid artery in the neck, then three weeks later we carry out an angiography with a diagnostic catheter from the right femoral artery to check aneurysm patency. Results. We were able to perform 10 aneurysms in ten rabbits; they were patent three weeks after their creation. The aneurysmscreation and the angiography performed to evaluate the aneurysm patency required a similar skill necessary to perform basic endovascular interventions. Conclusion. Aneurysms created from balloon angioplasty in the carotid artery in rabbits are a suitable model at least in the short term. The process of aneurysm formation and its study is an useful training in basic endovascular techniques.(AU)

Aneurismas cerebrales en la infancia: un solo nombre para diferentes enfermedades / Cerebral aneurysms in infancy: a name for different diseases

Objetivo. Resaltar la heterogeneidad de los aneurismas cerebrales en la población pediátrica. Material y método. 19 pacientes con 20 aneurismas intracraneanos fueron tratados en nuestro Hospital en los ultimos 6 años.Resultados. La edad media fue de 12 años (rango 10 meses a 17 años). 65 %de los aneurismas fueron saculares, 25% fusiformes, hubo un aneurisma infeccioso y otro lenticuloestriado distal. Los pacientes con aneurismas saculares fueron predominantemente varones y se manifestaron más comúnmente con hemorragia intracraneana (92%). Los aneurismas fusiformes se originaron posteriormente a una disección o fueron crónicos con trombo mural y ejerciendo efecto de masa. La terapéutica fue diferente según el tipo aneurismático. Conclusión. Los aneurismas pediátricos son un grupo heterogéneo de enfermedades arteriales intracraneanas con manifestaciones clínicas, morfología y terapéutica diferentes.

Aneurismas experimentales en conejos por angioplastia con balón / Experimental aneurysms in rabbits by ballon angioplasty

Objetive. To perform a new model of experimental aneurysms in rabbits and to achieve a training in basic endovascular techniques. Material and method. We introduce a new aneurysm model in rabbits. First we performed a balloon angioplasty in the right carotid artery in the neck, then three weeks later we carry out an angiography with a diagnostic catheter from the right femoral artery to check aneurysm patency. Results. We were able to perform 10 aneurysms in ten rabbits; they were patent three weeks after their creation. The aneurysmscreation and the angiography performed to evaluate the aneurysm patency required a similar skill necessary to perform basic endovascular interventions. Conclusion. Aneurysms created from balloon angioplasty in the carotid artery in rabbits are a suitable model at least in the short term. The process of aneurysm formation and its study is an useful training in basic endovascular techniques.

Neurosurgical vascular malformations in children under 1 year of age.

PURPOSE: This study aims to analyze the clinical and radiological findings, timing and type of treatment, and outcome in children under 1 year of age that presented with neurosurgical vascular malformations. METHODS: A retrospective review of 23 children under 1 year of age with neurosurgical vascular malformations was performed at a single institution between 1999 and 2009. RESULTS: The lesions found in this age group were: 10 vein of Galen aneurysmal malformations (VGAMs), 5 arteriovenous malformations (AVM), 2 pial arteriovenous fistulas (AVF; 1 in the brain and 1 in the spinal cord), 2 cavernous malformations, 2 dural sinus malformations (DSMs) in the posterior fossa with negative angiography which after surgery turned out to be embryonal malformations of dural sinuses, 1 sacular aneurysm, and 1 dural arteriovenous fistula (DAVF) that drained toward the vein of Galen. Of the 10 patients with VGAM, 8 presented choroidal type and 2 mural type. Two patients with choroidal VGAM were born in dramatically severe clinical condition; therefore, we decided to withhold aggressive treatment, and they died within 48 h after birth. The other eight patients with choroidal VGAM received endovascular treatment between 1 and 3 staged embolizations. In four of them, total occlusion was achieved and subtotal and partial in the others. One patient had complications and evolved with severe developmental delay. Another patient with partial occlusion died, and another patient with previous developmental delay stopped treatment because of parental decision making. Five patients evolved with normal development and one with mild delay. Only one patient required shunt. Hydrocephalus was solved after endovascular treatment in the rest of the patients. Regarding the five AVMs, four were treated with microsurgical approach achieving total resection of the lesion and normal developmental milestones except for one patient with brainstem AVM that was admitted with quadriparesis and coma. In the patient with basal ganglia AVM, the lesion spontaneously disappeared. From the two pial AVFs, the frontal one was microsurgically treated and the spinal one received endovascular session achieving 50% of lesion occlusion for which further treatment is needed. The two cavernous malformations were operated achieving total resection with normal development. The two children with DSM received surgical resection without complications and normal development. The rare case of sacular aneurysm at this age was occluded at the time of diagnostic procedure due to the bad clinical condition of the patient and the hematoma was removed immediately in the operating room. The only case of DAVF died of respiratory intercurrence after three sessions of endovascular treatment. CONCLUSIONS: In this neonatal age group (first year of life), we can find the whole range of neurosurgical vascular pathology: VGAM, AVM, cavernous malformation, DSM, pial AVF, DAVF, and sacular aneurysm. VGAM is the most frequent vascular malformation during the first year of age. The early treatment of vascular malformations prevents its adverse effects on a developing brain. A multidisciplinary team composed by endovascular and surgical specialists is necessary to discuss and treat each case.

Cerebral aneurysms in children: are we talking about a single pathological entity?

PURPOSE: The objective of this article is to highlight the fact that cerebral aneurysms in children are heterogeneous unlike in the adult population. MATERIAL AND METHODS: This is a retrospective review of 17 children with intracranial aneurysms who were managed at a single institution from 2004 to 2009. RESULTS: The median age was 12 years (range 10 months-17 years). Sixty-five percent of the aneurysms were saccular and 24% were fusiform. There was one infectious and one distal lenticulostriate aneurysm. Patients with saccular aneurysms were predominantly male and presented more commonly with intracranial hemorrhage (91%). The fusiform aneurysms were dissecting in nature or chronic with intramural thrombus and mass effect. The treatment was dependent upon the type and location of the aneurysm. CONCLUSION: Pedriatic aneurysms are a heterogeneous group of intracranial arterial diseases with different etiologies, diverse morphology, and dissimilar clinical manifestations.