Background Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the usual treatment, and compare the characteristics with those of children without craniosynostosis. Methods and patients An observational and retrospective cohort study was conducted. Clinical notes and cranial images were reviewed. Out of 96 children, only the 50 patients who had skull images were included. Results Out of 50 patients, 26 (15 males) had craniosynostosis (52%). No differences were observed in birth size, age, height, body proportions, alkaline phosphatase, serum phosphate, or percent tubular reabsorption of phosphate at first appointment among children with or without craniosynostosis. Among patients with craniosynostosis, dolichocephaly was prevalent. The sagittal suture was affected in all patients with craniosynostosis, with 19 of 26 children (73%) affected with isolated scaphocephaly. Pan-sutural craniosynostosis was present in 7 children (27%). None of the children had microcephaly, 7 of them presented macrocephaly and, in the remaining subjects, head circumference was normal. Five patients had undergone at least 1 cranial remodeling surgery. One patient with craniosynostosis was diagnosed with a Chiari I malformation. Molecular characterization of PHEX gene was performed in 14 cases. Conclusions Craniosynostosis is an underdiagnosed complication of hypophosphatemic rickets. Many patients with normal head size and growth may go undiagnosed, thus it is important to consider this association for early diagnosis and possible surgical treatment. A multidisciplinary approach is necessary for a correct long-term follow-up.
Background:Cavernous sinus tuberculomas are extremely rare, but the increasing incidence worldwide of central nervous system (CNS) tuberculosis, mostly due to human immunodeficiency virus and poor sanitary conditions, and the ability of tuberculomas to mimic a brain neoplasm makes cavernous sinus tuberculomas a suspicious pathologic finding in the differential diagnosis of a brain space-occupying lesion.Case Description:We present an immunocompetent patient with no signs of systemic tuberculosis and an isolated right cavernous sinus space-occupying lesion. A skull base approach was performed and tumor resection achieved. The postoperative course was uneventful. Pathologic findings consisted of a tuberculoma and antituberculous treatment was immediately begun with total tumor regression after a 12-month regimen. After reviewing the literature, we propose suggestions to orient the diagnosis and a treatment algorithm for tuberculomas in rare locations.Conclusion:Tuberculomas in rare locations, as the cavernous sinus, are a challenging pathology as they have the ability to mimic a brain neoplasm. Although first line treatment are antituberculous therapy (4 drugs for at least 12 months) and adjuvant steroids, in inconclusive cases, surgical biopsy or excision is recommended for histopathologic confirmation and to reduce the mass effect, always following with antituberculous therapy and adjuvant steroids.
Minimally invasive endoscopic techniques require specific training. Simulation training can improve and accelerate the learning curve. The presented training model allows simulating the different neuroendoscopic procedures. We believe that due to its practical possibilities, its simplicity, low cost, reproducibility, and reality, being live animal tissue, it can be considered a fundamental model within a complete training program on neuroendoscopy.
Introducción:La individualidad anatómica es clave para reducir el trauma quirúrgico y obtener un mejor resultado. Actualmente, el avance en las neuroimágenes ha permitido objetivar esa individualidad anatómica, permitiendo planificar la intervención quirúrgica. Con este objetivo, presentamos nuestra experiencia con el software Osirix.Descripción de la técnica:Se presentan 3 casos ejemplificadores de 40 realizados. Caso 1: Paciente con meningioma de la convexidad parasagital izquierda en área premotora; Caso 2: Paciente con macroadenoma hipofisario, operada previamente por vía transeptoesfenoidal en otra institución con una resección parcial; Caso 3: Paciente con lesiones en pedúnculo cerebeloso medio bilateral. Se realizó la planificación prequirúrgica con el software OsiriX, fusionando y reconstruyendo en 3D las imágenes de TC e IRM, para analizar relaciones anatómicas, medir distancias, coordenadas y trayectorias, entre otras funciones.Discusión:El software OsiriX de acceso libre y gratuito permite al cirujano, mediante la fusión y reconstrucción en 3D de imágenes, analizar la anatomía individual del paciente y planificar de forma rápida, simple, segura y económica cirugías de alta complejidad. En el Caso 1 se pudo analizar las relaciones del tumor con las estructuras adyacentes para minimizar el abordaje. En el Caso 2 permitió comprender la anatomía post-operatoria previa del paciente, para determinar la trayectoria del abordaje transnasal endoscópico y la necesidad de ampliar su exposición, logrando la resección tumoral completa. En el Caso 3 permitió obtener las coordenadas estereotáxicas y trayectoria de una lesión sin representación tomográfica.Conclusión:En casos de no contar con costosos sistemas de neuronavegación o estereotáxia el software OsiriX es una alternativa a la hora de planificar la cirugía, con el objetivo de disminuir el trauma y la morbilidad operatoria.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.