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1.
Childs Nerv Syst ; 40(7): 2193-2197, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38483605

RESUMEN

In 1994, the use of interfacet spacer placement was for joint distraction, reduction, and fusion to supplement atlantoaxial or occipitocervical fixation. Here, we present a unique case of bilateral atlantoaxial interfacet fixation using cervical facet cages (CFC) in a pediatric patient with basilar invagination. In addition, we review the literature on atlantoaxial facet fixation. We present a 12-year-old boy with Wiedemann-Steiner syndrome who presented with multiple episodes of sudden neck jerking, described as in response to a sensation of being shocked, and guarding against neck motion, found to have basilar invagination with cervicomedullary compression. He underwent an occiput to C3 fusion with C1-C2 CFC fixation. We also conducted a literature review identifying all publications using the following keywords: "C1" AND "C2" OR "atlantoaxial" AND "facet spacer" OR "DTRAX." The patient demonstrated postoperative radiographic reduction of his basilar invagination from 6.4 to 4.1 mm of superior displacement above the McRae line. There was a 4.5 mm decrease in the atlantodental interval secondary to decreased dens retroflexion. His postoperative course was complicated by worsening of his existing dysphagia but was otherwise unremarkable. His neck symptoms completely resolved. We illustrate the safe use of CFC for atlantoaxial facet distraction, reduction, and instrumented fixation in a pediatric patient with basilar invagination. Review of the literature demonstrates that numerous materials can be safely placed as a C1-C2 interfacet spacer including bone grafts, titanium spacers, and anterior cervical discectomy and fusion cages. We argue that CFC may be included in this arsenal even in pediatric patients.


Asunto(s)
Articulación Atlantoaxoidea , Fusión Vertebral , Humanos , Masculino , Niño , Articulación Atlantoaxoidea/cirugía , Articulación Atlantoaxoidea/diagnóstico por imagen , Fusión Vertebral/métodos , Vértebras Cervicales/cirugía , Vértebras Cervicales/diagnóstico por imagen , Fijadores Internos , Articulación Cigapofisaria/cirugía , Articulación Cigapofisaria/diagnóstico por imagen
2.
Neurosurg Focus ; 56(4): E3, 2024 04.
Artículo en Inglés | MEDLINE | ID: mdl-38560934

RESUMEN

OBJECTIVE: Although keyhole transorbital approaches are gaining traction, their indications have not been adequately studied comparatively. In this study the authors have defined them also as transwing approaches-meaning that they use the different facies of the sphenoid wing for cranial entry-and sought to compare the four major ones: 1) lateral orbitocraniotomy through a lateral canthal incision (LatOrb); 2) modified orbitozygomatic approach through a palpebral incision (ModOzPalp); 3) modified orbitozygomatic approach through an eyebrow incision (ModOzEyB); and 4) supraorbital craniotomy through an eyebrow incision (SupraOrb), coupled with its expanded version (SupraTransOrb). METHODS: Cadaveric dissections were performed at the neuroanatomy lab. To delineate the skull base exposure, four formalin-fixed heads were used, with two sides dedicated to each approach. The outer limits were assessed via image guidance and were mapped and illustrated accordingly. A fifth head was dissected purely endoscopically, just to facilitate an overview of the transwing concept. Qualitative features were also rigorously examined. RESULTS: The LatOrb proves to be more versatile in the middle cranial fossa (MCF), whereas the anterior cranial fossa (ACF) exposure is limited to a small area above the sphenoid ridge. An anterior clinoidectomy is possible; however, the exposure of the roof of the optic canal is suboptimal. The ModOzPalp adequately exposes both the ACF and MCF. Its lateral trajectory allows the inferior to superior view, yet there is restricted access to the medial anterior skull base (olfactory groove). The ModOzEyB also provides extensive exposure of the ACF and MCF, but has a more superior to inferior trajectory compared to the ModOzPalp, making it more appropriate for pathology reaching the medial anterior skull base or even the contralateral side. The anterior clinoidectomy is performed with improved visualization of the optic canal. The SupraOrb provides mainly anterior cranial base exposure, with minimal middle fossa. An anterior clinoidectomy can be performed, but without any direct observation of the superior orbital fissure. Some MCF access can be accomplished if the lateral sphenoid wing is drilled inferiorly, leading to its highly versatile variant, the SupraTransOrb. CONCLUSIONS: All the aforementioned approaches use the sphenoid wing as skull base corridor from a specific orientation point; hence these are designated as transwing approaches. Their peculiarities mandate careful case selection for the effective and safe completion of the surgical goals.


Asunto(s)
Craneotomía , Base del Cráneo , Humanos , Base del Cráneo/cirugía , Base del Cráneo/anatomía & histología , Craneotomía/métodos , Fosa Craneal Media/cirugía , Fosa Craneal Anterior/cirugía , Órbita/cirugía , Cadáver
3.
J Neurooncol ; 163(1): 123-132, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-37129738

RESUMEN

OBJECTIVE: Persistent hydrocephalus following posterior fossa brain tumor (PFBT) resection is a common cause of morbidity in pediatric brain tumor patients, for which the optimal treatment is debated. The purpose of this study was to compare treatment outcomes between VPS and ETV in patients with persistent hydrocephalus following surgical resection of a PFBT. METHODS: A post-hoc analysis was performed of the Hydrocephalus Clinical Research Network (HCRN) prospective observational study evaluating VPS and ETV for pediatric patients. Children who experienced hydrocephalus secondary to PFBT from 2008 to 2021 were included. Primary outcomes were VPS/ETV treatment failure and time-to-failure (TTF). RESULTS: Among 241 patients, the VPS (183) and ETV (58) groups were similar in age, extent of tumor resection, and preoperative ETV Success Score. There was no difference in overall treatment failure between VPS and ETV (33.9% vs 31.0%, p = 0.751). However, mean TTF was shorter for ETV than VPS (0.45 years vs 1.30 years, p = 0.001). While major complication profiles were similar, compared to VPS, ETV patients had relatively higher incidence of minor CSF leak (10.3% vs. 1.1%, p = 0.003) and pseudomeningocele (12.1% vs 3.3%, p = 0.02). No ETV failures were identified beyond 3 years, while shunt failures occurred beyond 5 years. Shunt infections occurred in 5.5% of the VPS cohort. CONCLUSIONS: ETV and VPS offer similar overall success rates for PFBT-related postoperative hydrocephalus. ETV failure occurs earlier, while susceptibility to VPS failure persists beyond 5 years. Tumor histology and grade may be considered when selecting the optimal means of CSF diversion.


Asunto(s)
Hidrocefalia , Neoplasias Infratentoriales , Neuroendoscopía , Niño , Humanos , Ventriculostomía/efectos adversos , Neuroendoscopía/efectos adversos , Derivación Ventriculoperitoneal/efectos adversos , Hidrocefalia/etiología , Hidrocefalia/cirugía , Hidrocefalia/epidemiología , Resultado del Tratamiento , Neoplasias Infratentoriales/complicaciones , Neoplasias Infratentoriales/cirugía , Estudios Retrospectivos
4.
Childs Nerv Syst ; 38(5): 961-970, 2022 05.
Artículo en Inglés | MEDLINE | ID: mdl-35274185

RESUMEN

BACKGROUND: MRI-guided laser interstitial thermal therapy (MRgLITT) is a promising alternative to open surgery for treatment of drug-resistant epilepsy, offering significant advantages over traditional approaches for candidate patients, including minimally invasive approach, shorter hospitalization, and decreased patient post-operative discomfort. LITT uses a stereotactically placed fiber optic laser probe to ablate tissue under real-time MR thermometry. METHODS: Retrospective chart review of intraoperative and perioperative characteristics was performed for 28 cases of MRgLITT in 25 pediatric patients, ages 4-21 years old, at our institution between 2019 and 2021. MRgLITT ablation of the mesial temporal lobe was performed in 8 cases, extratemporal epileptogenic foci in 9 cases, and for corpus callosotomy in 11 cases. RESULTS: At 1 year of follow-up, 53% of all patients experienced improvement in seizure frequency (Engel I or II) (class I: 38%, class II: 15%, class III: 17%, class IV: 31%), including 37% of MTL ablations and 80% extratemporal SOZ ablations. After MRgLITT corpus callosotomy, 71% of patients were free from atonic seizures at most recent follow-up. Median length of hospitalization was 2 days (1-3), including a median ICU stay of 1 day (1-2). CONCLUSION: This series demonstrates the safety of MRgLITT as an approach for seizure control in drug-resistant epilepsy. We provide additional evidence that MRgLITT is an effective procedure that is well-tolerated by pediatric patients and is accompanied by an acceptable rate of complications and relatively short hospital stay.


Asunto(s)
Epilepsia Refractaria , Terapia por Láser , Adolescente , Adulto , Niño , Preescolar , Epilepsia Refractaria/cirugía , Humanos , Imagenología Tridimensional , Terapia por Láser/efectos adversos , Terapia por Láser/métodos , Estudios Retrospectivos , Convulsiones/cirugía , Adulto Joven
5.
Pediatr Neurosurg ; 57(3): 213-221, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35398851

RESUMEN

BACKGROUND: Minimally invasive approaches to the anterior cranial fossa have evolved over the past few decades. The management of frontal epidural abscesses (EDAs) secondary to diffuse sinusitis in the pediatric population using minimally invasive techniques is scarcely reported in the literature. Herein, we report the utilization of a minimally invasive eyebrow approach for multidisciplinary concurrent evacuation of frontal EDA secondary to diffuse sinusitis and trephination of the frontal sinus in three pediatric patients. CASE REPORTS: Three pediatric patients presented to the emergency room with severe headaches, visual changes, somnolence, and significant facial and periorbital swelling. Imaging revealed diffuse sinusitis with focal frontal epidural extension. In all cases, progressive clinical deterioration along with the radiographic findings mandated urgent surgical intervention. The eyebrow approach allowed for concomitant evacuation of the frontal EDA and trephination of the frontal sinus followed by functional endoscopic sinus surgery in the same setting. All patients tolerated the procedure well with complete resolution of their symptoms at the completion of antibiotic therapy and complete resolution of the EDA. CONCLUSION: The eyebrow approach is a minimally invasive technique that should be considered as part of the armamentarium in the management of select EDA in the pediatric population. It allows for multidisciplinary collaboration between neurosurgeons and otolaryngologists for concomitant evacuation of the EDA and trephination of the frontal sinus. This approach is a feasible, safe, and effective minimally invasive technique that can be employed for the management of EDA secondary to diffuse sinusitis in the pediatric population.


Asunto(s)
Cejas , Sinusitis , Absceso , Niño , Craneotomía/métodos , Humanos , Sinusitis/complicaciones , Sinusitis/diagnóstico por imagen , Sinusitis/cirugía
6.
Pediatr Neurosurg ; 56(6): 519-528, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34518465

RESUMEN

INTRODUCTION: Endoscopic endonasal surgery (EES) has been slower to gain popularity in early childhood due to anatomical challenges. We sought to describe the safety and efficacy of EES in early childhood. METHODS: All patients younger than 7 years who underwent EES at a large Cranial Base Center from 2002 to 2019 were reviewed as a retrospective cohort study. RESULTS: Thirty-six patients underwent EES before the age of 7 years. Four patients had two-stage EES. Two patients required combined transcranial and endonasal approaches. The mean age at the time of initial surgery was 4 years (range: 1-6). Twenty patients were male, and 16 were female. Of 21 tumors intended for resection, 11 patients had gross total resections, and 10 had near total (>95% tumor removed) resections. Nine patients (43%) had recurrences, of which 6 were craniopharyngiomas (p = 0.01). There was no difference in recurrence rates based on the degree of resection (p = 0.67). Three cerebrospinal fluid (CSF) leaks occurred following primary EES (8%). Following an increase in nasoseptal flap usage (31-52%) and CSF diversion (15-39%) in 2008, there was only one CSF leak out of 23 patients (4 vs. 15%; p = 0.54). Postoperatively, 1 patient developed a permanent new cranial neuropathy, and 1 patient developed a permanent visual field cut. Six patients developed permanent postoperative panhypopituitarism, of which all were craniopharyngiomas (p < 0.001). The mean follow-up was 64 months. CONCLUSIONS: Early childhood EES is both safe and technically feasible for a variety of pathologies.


Asunto(s)
Neoplasias Hipofisarias , Complicaciones Posoperatorias , Niño , Preescolar , Endoscopía , Femenino , Humanos , Masculino , Recurrencia Local de Neoplasia , Estudios Retrospectivos , Base del Cráneo , Resultado del Tratamiento
7.
Pediatr Neurosurg ; 56(3): 229-238, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-33849030

RESUMEN

OBJECTIVE: We sought to compare our large single-institution cohort of postnatal myelomeningocele closure to the 2 arms of the Management of Myelomeningocele Study (MOMS) trial at the designated trial time points, as well as assess outcomes at long-term follow-up among our postnatal cohort. METHODS: A single-institutional retrospective review of myelomeningocele cases presenting from 1995 to 2015 at Children's Hospital of Pittsburgh was performed. We compared outcomes at 12 and 30 months to both arms of the MOMS trial and compared our cohort's outcomes at those designated time points to our long-term outcomes. Univariate statistical analysis was performed as appropriate. RESULTS: One-hundred sixty-three patients were included in this study. All patients had at least 2-year follow-up, with a mean follow-up of 10 years (range 2-20 years). There was no difference in the overall distribution of anatomic level of defect. Compared to our cohort, the prenatal cohort had a higher rate of tethering at 12 months of age, 8 versus 1.8%. Conversely, the Chiari II decompression rate was higher in our cohort (10.4 vs. 1.0%). At 30 months, the prenatal cohort had a higher rate of independent ambulation, but our cohort demonstrated the highest rate of ambulation with or without assistive devices among the 3 groups. When comparing our cohort at these early time points to our long-term follow-up data, our cohort's ambulatory function decreased from 84 to 66%, and the rate of detethering surgery increased almost 10-fold. CONCLUSIONS: This study demonstrated that overall ambulation and anatomic-functional level were significantly better among our large postnatal cohort, as well as having significantly fewer complications to both fetus and mother, when compared to the postnatal cohort of the MOMS trial. Our finding that ambulatory ability declined significantly with age in this patient population is worrisome for the long-term outcomes of the MOMS cohorts, especially given the high rates of cord tethering at early ages within the prenatal cohort. These findings suggest that the perceived benefits of prenatal closure over postnatal closure may not be as substantial as presented in the original trial, with the durability of results still remaining a concern.


Asunto(s)
Hidrocefalia , Meningomielocele , Niño , Femenino , Estudios de Seguimiento , Humanos , Hidrocefalia/cirugía , Meningomielocele/cirugía , Embarazo , Estudios Retrospectivos , Ventriculostomía
8.
Int J Hyperthermia ; 37(2): 84-93, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32672117

RESUMEN

Surgical treatment of deep or difficult to access lesions represents a unique and significant challenge for pediatric neurosurgeons. The introduction of stereotactic magnetic resonance-guided laser interstitial thermal therapy (LITT) over the last decade has had a dramatic impact on the landscape of pediatric neurosurgery. LITT provides a safe and effective option for children with epilepsy from hypothalamic hamartoma that represents a ground-breaking new therapy for a condition which was historically very difficult to treat with previous neurosurgical techniques. LITT has also been used as an alternative surgical technique for mesial temporal sclerosis, focal cortical dysplasia, MR-negative epilepsy, cavernoma-related epilepsy, insular epilepsy, and corpus callosotomy among other epilepsy etiologies. In some cases, LITT has been associated with improved cognitive outcomes compared to standard techniques, as in mesial temporal lobe epilepsy. Initial experiences with LITT for neuro-oncologic processes are also promising. LITT is often attractive to patients and providers as a minimally invasive approach, but the differences in safety and clinical outcome between LITT and traditional approaches are still being studied. In this review, we examine the emerging indications and clinical evidence for LITT in pediatric neurosurgery.


Asunto(s)
Hipertermia Inducida , Enfermedades Hipotalámicas , Terapia por Láser , Procedimientos Neuroquirúrgicos/tendencias , Niño , Humanos , Enfermedades Hipotalámicas/cirugía , Rayos Láser , Imagen por Resonancia Magnética , Resultado del Tratamiento
9.
Childs Nerv Syst ; 36(9): 2099-2102, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32100079

RESUMEN

Esthesioneuroblastomas are uncommon tumors in pediatric patients and are typically treated with multimodal therapy. Changes in gross tumor quality and character in response to adjuvant treatment have not been clearly reported. We report the case of a 15-year-old female with a diagnosis of Kadish stage C esthesioneuroblastoma who was treated with neoadjuvant chemotherapy and surgical resection. The patient's tumor demonstrated cytoreduction after chemotherapy but also was found to have calcified. A combined trans-frontal sinus craniotomy with endoscopic endonasal resection was performed and resulted in negative margins and good clinical outcome.


Asunto(s)
Estesioneuroblastoma Olfatorio , Neoplasias Nasales , Adolescente , Endoscopía , Estesioneuroblastoma Olfatorio/diagnóstico por imagen , Estesioneuroblastoma Olfatorio/tratamiento farmacológico , Estesioneuroblastoma Olfatorio/cirugía , Femenino , Humanos , Cavidad Nasal/diagnóstico por imagen , Cavidad Nasal/cirugía , Neoplasias Nasales/diagnóstico por imagen , Neoplasias Nasales/tratamiento farmacológico , Neoplasias Nasales/cirugía , Estudios Retrospectivos , Resultado del Tratamiento
10.
Neurosurg Focus ; 48(2): E5, 2020 02 01.
Artículo en Inglés | MEDLINE | ID: mdl-32006942

RESUMEN

Awake craniotomies are a crucial tool for identifying eloquent cortex, but significant limitations frequently related to patient tolerance have limited their applicability in pediatric cases. The authors describe a comprehensive, longitudinal protocol developed in collaboration with a certified child life specialist (CCLS) in order to enhance patient experiences and develop resiliency related to the intraoperative portion of cases. This protocol includes preoperative conditioning, intraoperative support, and postoperative positive reinforcement and debriefing. A unique coping plan is developed for each prospective patient. With appropriate support, awake craniotomy may be applicable in a wider array of preadolescent and adolescent patients than has previously been possible. Future prospective studies are needed to validate this approach.


Asunto(s)
Adaptación Psicológica/fisiología , Craneotomía/psicología , Cuidados Intraoperatorios/psicología , Cuidados Preoperatorios/psicología , Sistemas de Apoyo Psicosocial , Vigilia/fisiología , Niño , Preescolar , Craneotomía/métodos , Femenino , Personal de Salud/psicología , Humanos , Cuidados Intraoperatorios/métodos , Estudios Longitudinales , Masculino , Cuidados Preoperatorios/métodos
11.
Neurosurg Focus ; 49(6): E12, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33260127

RESUMEN

OBJECTIVE: During the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, endoscopic endonasal surgery (EES) is feared to be a high-risk procedure for the transmission of coronavirus disease 2019 (COVID-19). Nonetheless, data are lacking regarding the management of EES during the pandemic. The object of this study was to understand current worldwide practices pertaining to EES for skull base/pituitary tumors during the SARS-CoV-2 pandemic and provide a basis for the formulation of guidelines. METHODS: The authors conducted a web-based survey of skull base surgeons worldwide. Different practices by geographic region and COVID-19 prevalence were analyzed. RESULTS: One hundred thirty-five unique responses were collected. Regarding the use of personal protective equipment (PPE), North America reported using more powered air-purifying respirators (PAPRs), and Asia and Europe reported using more standard precautions. North America and Europe resorted more to reverse transcriptase-polymerase chain reaction (RT-PCR) for screening asymptomatic patients. High-prevalence countries showed a higher use of PAPRs. The medium-prevalence group reported lower RT-PCR testing for symptomatic cases, and the high-prevalence group used it significantly more in asymptomatic cases.Nineteen respondents reported transmission of COVID-19 to healthcare personnel during EES, with a higher rate of transmission among countries classified as having a medium prevalence of COVID-19. These specific respondents (medium prevalence) also reported a lower use of airborne PPE. In the cases of healthcare transmission, the patient was reportedly asymptomatic 32% of the time. CONCLUSIONS: This survey gives an overview of EES practices during the SARS-CoV-2 pandemic. Intensified preoperative screening, even in asymptomatic patients, RT-PCR for all symptomatic cases, and an increased use of airborne PPE is associated with decreased reports of COVID-19 transmission during EES.


Asunto(s)
COVID-19/epidemiología , Salud Global/normas , Procedimientos Neuroquirúrgicos/normas , Guías de Práctica Clínica como Asunto/normas , Base del Cráneo/cirugía , Encuestas y Cuestionarios/normas , COVID-19/prevención & control , COVID-19/transmisión , Humanos , Cavidad Nasal/cirugía , Neuroendoscopía/métodos , Neuroendoscopía/normas , Neurocirujanos/normas , Procedimientos Neuroquirúrgicos/métodos , Equipo de Protección Personal/normas
12.
Pediatr Neurosurg ; 55(6): 439-443, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33445174

RESUMEN

BACKGROUND: Classic geniculate neuralgia (GN) is a rare condition characterized by lancinating pain centered in the ear and not involving the throat. To the best of our knowledge, no case of pediatric GN has been reported in the English literature. CASE PRESENTATION: We present the first reported case of successfully treated GN in a child via an endoscopic approach. The patient was a 9-year-old boy who presented with a 1-year history of lancinating right ear pain. Neuroleptics resulted in a short-lived improvement in symptoms, but with significant side effects. Extensive evaluation by multiple specialties did not reveal a cause for his pain. Imaging disclosed a tortuous loop of the right posterior inferior cerebellar artery abutting cranial nerves IX and X but no other abnormalities. The patient underwent an endoscopic microvascular decompression of cranial nerves IX and X, and sectioning of the nervus intermedius through a right retromastoid craniotomy. Postoperatively, the patient reported complete resolution of his symptoms that persisted at 3 months of follow-up. At the 5-year follow-up, the patient maintained pain relief and was developing normally. CONCLUSION: GN can affect the pediatric population. In carefully selected patients with consistent clinical and radiographic presentation, sectioning of the nervus intermedius and microvascular decompression of the lower cranial nerves can be an effective treatment.


Asunto(s)
Herpes Zóster Ótico , Cirugía para Descompresión Microvascular , Niño , Nervios Craneales , Nervio Facial/cirugía , Herpes Zóster Ótico/cirugía , Humanos , Masculino , Resultado del Tratamiento
13.
Curr Opin Pediatr ; 31(6): 797-806, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-31693590

RESUMEN

PURPOSE OF REVIEW: Neurodevelopmental-behavioural paediatrics (NBP) is a field of medical practice that has arisen in response to recent changes in child health epidemiology. This review considers how the profession of NBP is addressing clinical need, and discusses possibilities for future development of the field. RECENT FINDINGS: Research publications relevant to NBP clinical practice focus primarily on cause (e.g. biology, imaging, neuropsychology), early detection, diagnostic methodologies and initial treatment strategies, with emphasis on psychotropic medication. Translation of this research implies that NBP clinical services should be undertaken using algorithmic methodologies, and evaluated against treatment attributable outcomes. These strategies and outcomes potentially define the central purpose of the profession; however, they may not be sufficient to best help the children seen. SUMMARY: Two sets of information inform and extend consideration of NBP purpose and strategy. Firstly, longitudinal and adult studies indicate that even with treatment, problems persist in adult life for a significant proportion of children with neurodevelopmental-behavioural disorders. Secondly, NBP clinical practice deals with significant, irreducible complexity and uncertainty, arising from both child-diagnostic and contextual factors. Complexity limits the extent to which evidence-based clinical algorithms are able to inform care. Suggestions for how to address both challenges are offered.


Asunto(s)
Trastornos de la Conducta Infantil , Discapacidades del Desarrollo , Trastornos del Neurodesarrollo , Pediatría , Adulto , Medicina de la Conducta , Niño , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/terapia , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/terapia , Humanos , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/terapia , Neurología
14.
Pediatr Neurosurg ; 54(3): 201-206, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30879010

RESUMEN

Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [1]. A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No HRAS or KRAS gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.


Asunto(s)
Astrocitoma/patología , Neoplasias Encefálicas/patología , Nevo Sebáceo de Jadassohn/complicaciones , Adolescente , Astrocitoma/diagnóstico por imagen , Astrocitoma/cirugía , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Humanos , Masculino , Nevo Sebáceo de Jadassohn/genética , Fenotipo , Proteínas Proto-Oncogénicas p21(ras)/genética , Convulsiones/etiología
15.
Pediatr Neurosurg ; 54(5): 347-353, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31430747

RESUMEN

Translocations between EWSR1 and members of the CREB family of transcription factors (CREB1, ATF1, and CREM) are rare genetic findings occurring in various sarcomas. Of these, the EWSR1-CREM translocation is the most rarely reported. We present the case of a 9-year-old boy who presented with a year of fatigue, weight loss, and abulia. A brain MRI revealed a frontal interhemispheric tumor arising from the falx. After resection, pathology demonstrated a myxoid mesenchymal tumor with an EWSR1-CREM translocation. A series of recent reports of similar tumors has generated ongoing debate in the literature over the classification of these tumors either as intracranial angiomatoid fibrous histiocytomas, which also harbor EWSR1-CREB family translocations, or as a novel diagnostic entity. The present case provides another example of the rare EWSR1-CREM fusion in an intracranial myxoid mesenchymal tumor that recurred in just 6 months despite gross total resection. The findings are discussed in the context of the existing literature and the ongoing effort to appropriately classify this type of tumor.


Asunto(s)
Neoplasias Encefálicas/genética , Modulador del Elemento de Respuesta al AMP Cíclico/genética , Histiocitoma Fibroso Maligno/genética , Recurrencia Local de Neoplasia/genética , Proteína EWS de Unión a ARN/genética , Translocación Genética/genética , Neoplasias Encefálicas/diagnóstico por imagen , Neoplasias Encefálicas/cirugía , Niño , Histiocitoma Fibroso Maligno/diagnóstico por imagen , Histiocitoma Fibroso Maligno/cirugía , Humanos , Masculino , Recurrencia Local de Neoplasia/diagnóstico por imagen , Recurrencia Local de Neoplasia/cirugía
16.
Pediatr Neurosurg ; 54(3): 181-187, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31112956

RESUMEN

INTRODUCTION: The purpose of this study is to identify the national trends of exposure to pediatric procedures during neurosurgical residency and to subsequently evaluate how neurosurgery residents' experiences correlate with the minimum requirements set forth by the American College of Graduate Medical Education (ACGME). METHODS: ACGME resident case logs from residents graduating between 2013 and 2017 were retrospectively reviewed. These reports were analyzed to determine trends in resident operative experience in pediatric procedures. The number of cases performed by residents was compared to the required minimums set by the ACGME within each pediatric surgical category. A linear regression analysis and t tests were utilized to analyze the change in cases performed over the study period. RESULTS: A mean of 98.8 procedures were performed for each of the 877 residents graduating between 2013 and 2017. The total number of pediatric procedures declined at a rate of 1.7 cases/year (r2 = 0.77, p = 0.05). Spine and cerebrospinal fluid diversion procedures showed decreasing trends at rates of 1.9 (r2 = 0.70, p = 0.08) and 1.2 (r2 = 0.70, p = 0.08) cases/year, respectively. The number of trauma and brain tumor cases were shown to have increasing rates at 1.0 (r2 = 0.86, p = 0.02) and 0.3 (r2 = 0.69, p = 0.08) cases/year, respectively, with trauma cases showing significant increases. There was also a trend of increasing cases logged as the lead resident surgeon by 12.9 cases/year (r2 = 0.99, p < 0.001). The number of cases performed by the average graduating resident was also significantly higher than the minimums required by the ACGME; residents, on average, performed 3 times the required minimum number of pediatric cases. CONCLUSION: Neurosurgical residents graduating from 2013 to 2017 reported significantly higher volumes of pediatric neurosurgery cases than the standards set for by the ACGME. During this time, there was also a significant trend of increasing cases logged as the lead resident surgeon, suggesting more involvement in the critical portions of pediatric cases. There was also a significant, but not clinically impactful, decrease in pediatric case volumes during this time. However, the overall data indicate that residents are continuing to gain valuable pediatric experience during residency training.


Asunto(s)
Competencia Clínica/normas , Internado y Residencia , Neurocirugia/educación , Procedimientos Neuroquirúrgicos/estadística & datos numéricos , Acreditación/normas , Niño , Educación de Postgrado en Medicina , Humanos , Masculino , Estudios Retrospectivos , Estados Unidos
17.
J Paediatr Child Health ; 54(10): 1077-1083, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30294983

RESUMEN

Specific learning disabilities (SLD) have an impact on discrete areas of academic function. They result in a level of difficulty that is unexpected when considered in the context of a student's overall intellectual and academic competence. A common example is dyslexia, an SLD that affects the acquisition of literacy. Medical professionals have an important role to play in the evaluation and management of SLD. The medical role is founded on the fact that these conditions are biologically based and have the potential to cause significant harm for the developing child. Even if details of biological causation are not possible to demonstrate for individual children, medical professionals may, nevertheless, make an important judgement call regarding the likelihood of aetiology. When learning problems are medically based, it is clearly unreasonable to expect children to do more than they are able and to learn faster than is reasonable. Advocacy around these biological presumptions and their implications is a major contribution to the well-being of children who have SLD.


Asunto(s)
Discapacidades para el Aprendizaje/diagnóstico , Discapacidades para el Aprendizaje/terapia , Adolescente , Niño , Comunicación , Femenino , Humanos , Masculino
18.
J Paediatr Child Health ; 54(10): 1084-1089, 2018 10.
Artículo en Inglés | MEDLINE | ID: mdl-30294988

RESUMEN

When practising neurodevelopmental-behavioural paediatrics, responsibility rests with the individual clinician to interpret research evidence in their daily work. This is not necessarily an easy task. Children do not usually present with single, easily definable problems. Complexity and uncertainty are present from the outset due to heterogeneity inherent in the diagnoses available, patterns of comorbid problems and the unique challenges of each child's social context. This article examines the resulting clinical challenge and offers potential responses. Rather than striving to eliminate uncertainty with strategies such as extensive assessment, the goal is to work effectively and efficiently within the limits of what can be readily known. Suggested strategies address complexity by considering the components of what is going on (biological, developmental, transactional) as hypotheses shared within each child's system of care. These hypotheses can then be tested and revised systematically as further information arises along the journey of treatment and longitudinal care.


Asunto(s)
Trastornos de la Conducta Infantil/diagnóstico , Trastornos del Neurodesarrollo/diagnóstico , Incertidumbre , Niño , Trastornos de la Conducta Infantil/terapia , Diagnóstico Diferencial , Técnicas de Diagnóstico Neurológico , Humanos , Trastornos del Neurodesarrollo/terapia
20.
Pediatr Neurosurg ; 53(2): 100-107, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29316543

RESUMEN

INTRODUCTION: Myelomeningocele (MMC) is an open neural tube defect routinely surgically closed within 48 h of birth to prevent secondary infection. Up to 18% of patients experience wound complications, and 85% require shunting for hydrocephalus. We hypothesized that wound complications could be reduced by cerebrospinal fluid (CSF) diversion at the time of closure. METHODS: Institutional review board approval was obtained to review records of the 88 patients who underwent MMC closure between January 2005 and June 2016 at the Children's Hospital of Pittsburgh. Twenty-three patients (26%) had an external ventricular drain (EVD) placed at the time of MMC closure and underwent 7-11 days of CSF drainage. Fourteen patients (16%) had a shunt placed at the time of MMC closure, and 51 (58%) had no form of CSF diversion at the time of MMC closure. RESULTS: Patients with an EVD or shunt placed at the time of closure had no wound complications. In contrast, 8 patients (16%) without CSF diversion at closure developed wound complications (p = 0.048). Seven of the 8 wound complications occurred in the 71 patients with evidence of hydrocephalus at birth (p = 0.98). Of patients with evidence of hydrocephalus at the time of MMC closure, wound complications had a higher rate of occurrence among patients who did not receive a shunt or EVD at closure (p = 0.01). When comparing only patients with evidence of hydrocephalus at birth, the EVD group alone had a lower rate of wound complications than patients who did not receive CSF diversion at the time of closure (p = 0.031). CONCLUSIONS: These results suggest that addressing hydrocephalus at the time of MMC closure significantly reduces the likelihood of wound complications and may justify temporary CSF diversion at birth, at least in those patients manifesting hydrocephalus.


Asunto(s)
Drenaje , Hidrocefalia/cirugía , Meningomielocele/complicaciones , Derivación Ventriculoperitoneal/métodos , Femenino , Humanos , Hidrocefalia/complicaciones , Recién Nacido , Masculino , Meningomielocele/cirugía , Procedimientos Neuroquirúrgicos/efectos adversos , Estudios Retrospectivos
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