Cranial and ventricular size following shunting or endoscopic third ventriculostomy (ETV) in infants with aqueductal stenosis: further insights from the International Infant Hydrocephalus Study (IIHS).

PURPOSE: The craniometrics of head circumference (HC) and ventricular size are part of the clinical assessment of infants with hydrocephalus and are often utilized in conjunction with other clinical and radiological parameters to determine the success of treatment. We aimed to assess the effect of endoscopic third ventriculostomy (ETV) and shunting on craniometric measurements during the follow-up of a cohort of infants with symptomatic triventricular hydrocephalus secondary to aqueductal stenosis. METHODS: We performed a post hoc analysis of data from the International Infant Hydrocephalus Study (IIHS)-a prospective, multicenter study of infants (< 24 months old) with hydrocephalus from aqueductal stenosis who were treated with either an ETV or shunt. During various stages of a 5-year follow-up period, the following craniometrics were measured: HC, HC centile, HC z-score, and frontal-occipital horn ratio (FOR). Data were compared in an analysis of covariance, adjusting for baseline variables including age at surgery and sex. RESULTS: Of 158 enrolled patients, 115 underwent an ETV, while 43 received a shunt. Both procedures led to improvements in the mean HC centile position and z-score, a trend which continued until the 5-year assessment point. A similar trend was noted for FOR which was measured at 12 months and 3 years following initial treatment. Although the values were consistently higher for ETV compared with shunt, the differences in HC value, centile, and z-score were not significant. ETV was associated with a significantly higher FOR compared with shunting at 12 months (0.52 vs 0.44; p = 0.002) and 3 years (0.46 vs 0.38; p = 0.03) of follow-up. CONCLUSION: ETV and shunting led to improvements in HC centile, z-score, and FOR measurements during long-term follow-up of infants with hydrocephalus secondary to aqueductal stenosis. Head size did not significantly differ between the treatment groups during follow-up, however ventricle size was greater in those undergoing ETV when measured at 1 and 3 years following treatment.

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 pial fistulas in pediatric population. Clinical features and treatment modalities.

PURPOSE: The purpose of the study is to describe the clinical manifestations and treatment modalities of patients having intracranial pial arteriovenous fistulas (PAVFs). METHODS: We retrospectively analyzed the cases of PAVFs from January 2004 to December 2013. Medical charts, diagnostic images, surgical, and endovascular reports were reviewed retrospectively during each of the procedures and follow-up. We recorded patient demographics, clinical presentation, treatment modalities, and outcome. RESULTS: Ten patients with single PAVFs were identified, one of them with multiple holes. The median age was 7.5 years old (20 days to 14 years). Six patients were male (60% of cases). Four PAVFs were localized in the posterior fossa, and six were supratentorial (60%). Two patients had intracranial bleeding, three presented seizures, one was studied for chronic headaches, three manifested by growth retardation, one had hydrocephalus, and one had a congestive heart failure (CHF) and vein of Galen aneurysmal malformation (VGAM). The latter did not improve after embolization and died few days later. Endovascular therapy was used in eight, whereas two patients were surgically managed. Total occlusion of the fistula was achieved in all cases. CONCLUSIONS: PAVF affects pediatric population at different ages with miscellaneous clinical manifestations. Endovascular treatment is safe and effective when the venous side of the fistula can be occluded.

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.

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.

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.

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.

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

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

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.

Comparison of energy expenditure, body composition, metabolic disorders, and energy intake between obese children with a history of craniopharyngioma and children with multifactorial obesity.

UNLABELLED: Craniopharyngioma is a histologically benign brain malformation with a fundamental role in satiety modulation, causing obesity in up to 52% of patients. AIM: To evaluate cardiovascular risk factors, body composition, resting energy expenditure (REE), and energy intake in craniopharyngioma patients and to compare the data with those from children with multifactorial obesity. POPULATION: All obese children and adolescents who underwent craniopharyngioma resection and a control group of children with multifactorial obesity in follow-up between May 2012 and April 2013. MATERIALS AND METHODS: Anthropometric measurements, bioelectrical impedance, indirect calorimetry, energy intake, homeostatic model assessment insulin resistance (HOMA-IR), and dyslipidemia were evaluated. RESULTS: Twenty-three patients with craniopharyngioma and 43 controls were included. Children with craniopharyngioma-related obesity had a lower fat-free mass percentage (62.4 vs. 67.5; p=0.01) and a higher fat mass percentage (37.5 vs. 32.5; p=0.01) compared to those with multifactorial obesity. A positive association was found between %REE and %fat-free mass in subjects with multifactorial obesity (68±1% in normal REE vs. 62.6±1% in low REE; p=0.04), but not in craniopharyngioma patients (62±2.7 in normal REE vs. 61.2±1.8% in low REE; p=0.8). No differences were found in metabolic involvement or energy intake. CONCLUSIONS: REE was lower in craniopharyngioma patients compared to children with multifactorial obesity regardless of the amount of fat-free mass, suggesting that other factors may be responsible for the lower REE.

Symptomatic supratentorial arachnoid cysts in children.

This study was undertaken to evaluate the clinical and radiologic long-term outcome of symptomatic primary arachnoid cysts in pediatric patients. Thirty-three children, ranging from 2 months to 17 years of age (mean age, 6 years) were treated. Craniotomy and fenestration of the cyst were used for temporal fossa and midline cysts in 24 patients (73%); later, two patients required shunt placement. Shunting device implantation was performed for cerebral convexity cysts in nine patients (27%), and two patients required a subsequent craniotomy and fenestration of the cyst. Four patients (12%) required additional surgery because of clinical progression rather than for cyst enlargement. Eleven patients (33%) experienced a cyst reduction of more than 50% compared with the original size on imaging studies. There was a significant correlation with the alleviation of symptoms (P < 0.005), regardless of the treatment used. Complete alleviation of symptoms was achieved in all patients after treatment, regardless of cyst reduction. Long-term follow-up of 70 +/- 9.3 months demonstrated no recurrence of symptoms or progressive enlargement of the arachnoid cyst in all 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.

Cerebellopontine angle lesions in children.

BACKGROUND: Cerebellopontine angle (CPA) lesions are more commonly found in adults in which they account for 5-10% of all intracranial tumors. However, they are uncommon in children, with an incidence of only 1%. MATERIALS AND METHODS: This is a review of the management of CPA lesions in children admitted to the Hospital Nacional de Pediatría "Profesor Doctor Juan P. Garrahan" (Argentine National Pediatrics Hospital "Professor Juan P. Garrahan") between January 1988 and December 2003. RESULTS: The series included 30 children with 33 CPA lesions, 20 arising from the subarachnoid space of the CPA and 13 from the vicinity and growing mainly into the CPA. Twenty-seven tumors were located in the left CPA (82%) and six (12%), on the right. Ten of the 30 patients developed hydrocephalus, but only three of these required treatment. All patients underwent retrosigmoid suboccipital craniotomy and microsurgical resection. Gross total removal was achieved in 12 cases, subtotal in 18, and fenestration of the cyst wall in the three arachnoid cysts. Ten patients have no sequelae, ten have mild deficit, three have severe deficits, and seven have died. CONCLUSION: The CPA is a rare location for lesions in children, with clear predominance on the left side. Benign lesions are more frequent. Even though schwannoma is the most frequently found lesion, the histology varies widely.

Pinealoblastomas in children.

INTRODUCTION: Series of pinealoblastomas (PB) usually comprise small number of cases as this tumor type is extremely rare and occurs mainly in childhood (especially under 9 years of age). Frequently, PB are reported together with others pineal parenchymal tumors (PPT) or pineal tumors, making characterization far from adequate. MATERIALS AND METHODS: Our series of CNS pediatric tumors comprises 1,350 cases of whom 16 are PPT, 12 PB, two pineocytomas (PC), and two mixed or transitional tumors (PC/PB). We have only analyzed the PB considering clinical features, treatment strategy, prognosis, recurrences, and mortality. RESULTS: PB represented 0.89%. Mean age was 7 years. Male-female ratio was 8/4. All patients complained of increased intracranial pressure, eight presented ocular symptoms, two cerebellar, and one endocrine disturbances. Patients underwent CT scans and/or MRI. All children had negative serum and CSF markers and only one case had positive tumor cells in the CSF on admission. Hydrocephalus (12/12) was treated with ventriculoperitoneal shunt in 11/12 and endoscopic third ventriculostomy (ETV) in 1/12. We performed 11 surgical procedures (seven by occipital transtentorial approach) and one endoscopic biopsy. Total removal was achieved in two, partial removal (50-90%) in seven, and biopsy in three patients or <50%. Adjuvant therapy included radiotherapy and chemotherapy. Recurrences appeared in 8/12 cases (mean time of recurrence=27.28 months). Six patients died (mean survival=29.55 months). Mean follow up for the six patients alive was 54 months and mean follow up for all 12 children was 38.7 months. CONCLUSION: In our opinion, PB have a poor prognosis and are very aggressive, especially in small children. Survival rate at 1 and 5 years in the present series is 66.6% (8/12) and 50% (6/12), respectively. We propose an algorithm for the treatment of pediatric patients with PB.