Treatment with radiosynoviorthesis in hemophilic patients with and without inhibitor.

BACKGROUND: Spontaneous bleedings occurring into joints (hemarthrosis) are the most common manifestations of hemophilia and causes severe joint damage ultimately resulting in joint disfunction known as hemophilic arthropathy. Among available therapeutic options for reducing recurrent hemarthrosis-associated damage, radiosynoviorthesis (RS) has proven effective in improving joint function. AIM: To assess the impact of RS with Yttrium(90) citrate (C-Y(90)) on frequency of hemarthroses and joint function in a group of pediatric patients. METHODS: Between November 1998 and February 2017, we evaluated 27 pediatric patients with mild, moderate or severe hemophilia with haemophilic arthropathy. Overall, RS was applied in 60 joints. Some patients received more than one single intra-articular injection with C-Y(90). RESULTS: During the follow-up, one patient showed joint bleeding 15 months after RS, one patient after 12 months and one patient after 45 days. The episodes of hemarthrosis were reduced and joint function significantly improved in all patients. CONCLUSION: RS with C-Y(90) is a simple and safe treatment for reducing the frequency of hemarthroses in patients with hemophilia. It decreases the use of factor VIII / IX and improves joint function.

A report of two children with Gorham-Stout disease.

BACKGROUND: Gorham-Stout disease is a rare condition characterized by unifocal and massive type IV osteolysis (variant of idiopathic nonhereditary osteolytic disease) with a slow progression, which is self-limiting for some years. It is characterized by recurrent vascular tumors with disruption of the anatomical architecture and intraosseous proliferation of vascular channels that leads to the destruction and resorption of the bone matrix. The aim of this study is to present the clinical features of this disease, as well as the importance of prompt diagnosis and treatment, with a review of the reported cases. CASE REPORTS: We describe two cases of Gorham-Stout disease between 2013 and 2017 with surgical interventions, follow-up and results. Case one involves an 11-year-old male with involvement of the left iliac bone, with adequate evolution after a surgical procedure with a lyophilized cadaveric tricortical bone allograft. Case two involves a 6-year-old male with cervical spine C1-C3 repercussion; in the protocol for surgical treatment, he presented with signs of spinal cord compression and died. CONCLUSION: Diagnosis of Gorham-Stout disease is made by exclusion, and its clinical presentation varies widely, from spontaneous remission to a fatal outcome.

[Adjuvant cryosurgery in the treatment of unicameral bone cysts]. / Criocirugía adyuvante en el tratamiento del quiste óseo unicameral.

BACKGROUND: Multiple treatments have been used for the unicameral bone cyst lesion, such as steroid application, multiple perforations, bone curettages, partial resection and bone grafting. The purpose of this study was to describe the evolution of children with unicameral bone cyst who were treated with cryosurgery as coadjuvant therapy. METHODS: Cross-sectional descriptive study over the period between January 2001 and December 2006. Twelve patients were studied and treated at the Pediatric Orthopedics Department of the Pediatrics Hospital at the Centro Médico Nacional Siglo XXI. RESULTS: Twelve patients were analyzed; all of them were treated with curettage, cryotherapy and bone grafting. In 7 patients, the lesions were located in the humerus (58.3 %), in 3 in the tibia (25 %), in 1 in the ilio-ischiopubic branch (8.3 %), and in 1 in the clavicle (8.3 %). Follow-up ranged from 12 to 36 months. Bone healing required 2 to 3 months after the surgery; the response was complete in 9 (75 %) patients and partial in 3 (25 %). Function was restored in all cases, without recurrences. CONCLUSIONS: Cryosurgery as an adjuvant treatment and autologous or homologous bone grafting prevented local recurrence of unicameral bone cyst lesions, favored bone healing and allowed for a full range of motion functionality without complications.

INTRODUCCIÓN: se han propuesto múltiples medidas para tratar la lesión del quiste óseo unicameral, como la aplicación de esteroides, las perforaciones múltiples, los legrados óseos, la resección parcial y la aplicación de injerto óseo. El objetivo de esta investigación fue describir la evolución de los niños con quiste óseo unicameral a quienes se les realizó criocirugía como tratamiento coadyuvante. MÉTODOS: estudio transversal descriptivo que abarcó el periodo entre enero de 2001 y diciembre de 2006. Se estudiaron y trataron 12 pacientes atendidos en un servicio de ortopedia pediátrica. RESULTADOS: se analizaron 12 pacientes; a todos se les realizó legrado, criocirugía e injerto óseo. En siete pacientes, las lesiones se localizaron en húmero (58.3 %), en tres en tibia (25 %), en uno en las ramas iliopúbica e isquiopúbica (8.3 %) y en uno en clavícula (8.3 %). El seguimiento osciló entre los 12 y 36 meses. La consolidación ósea después de la cirugía requirió dos a tres meses; la respuesta fue completa en nueve (75 %) y parcial en tres (25 %). Se restableció la función en todos los casos, sin recidivas. CONCLUSIONES: la criocirugía como tratamiento adyuvante y la aplicación de injerto óseo evitó la recurrencia local de las lesiones quísticas óseas unicamerales, favoreció la consolidación ósea y permitió la funcionalidad de los arcos de movilidad en su totalidad, sin complicaciones.

[Li-Fraumeni familial cancer syndrome: case report and review of the literature]. / Síndrome de Li Fraumeni. Cáncer familiar comunicación de un caso y revisión de la literatura.

INTRODUCTION: Multiple familial cancer is a rare entity as is also Li-Fraumeni Syndrome (LFS), which involves a mutation in the germ cell line of Tp53 suppresor gene that is expressed in chromosome 17p13.1 and occurs as an autosomal dominant condition. OBJECTIVE: Presentation of one case of LFS. CLINICAL CASE: Family history: maternal grandfather had melanoma and maternal aunt had osteoblastic osteosarcoma of the left distal femur. Eight-and-a-half year-old child with a history of a CNS tumor (choroid plexus carcinoma) and two years later, a melanoma (Spitz nevus). SYMPTOMS: impaired motor function of the left half of the body and pain upon ipsilateral gait. The physical exam showed swelling of the left iliac crest. The X-rays showed osteoblastic osteosarcoma and the fine needle aspiration biopsy (FNAB) was positive. The diagnosis was made according to the clinical criteria for LFS. DISCUSSION: We report a case of LFS diagnosed based on clinical criteria. We suggest that the questioning of patients with cancer be aimed at finding out the family history of neoplasias. The case presented herein shows an evident association between both choroid plexus carcinoma and osteoblastic osteosarcoma and the patient's family history. We think that any physician treating children with cancer should consider these multiple familial cancer syndromes.