Blindness as a complication of monobloc frontofacial advancement with distraction.

The monobloc frontofacial osteotomy provides aesthetic and functional improvement in the treatment of various craniofacial deformities. This procedure, through highly complex, has had some significant associated complication, such as cerebrospinal fluid leakage, hematoma, infection, and bone resorption. Distraction has been successfully used to gradually elongate bone and soft tissue. This method seems to provide improved results over conventional surgery, with less morbidity. We present a case of a patient with Apert syndrome who underwent monobloc advancement using the Rigid External Device (RED) device and who developed a transient bilateral amaurosis on the fourth postoperative day before distraction. A second procedure was performed to push back the frontal bandeau, maintaining the device in position. The blindness was resolved with this procedure as well as treatment with systemic steroids. The distraction was started thereafter, and the desired improvement was acquired. To our knowledge, this is the first case of transient bilateral amaurosis in a patient undergoing monobloc distraction.

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.

Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage. To delineate the gene expression profile involved in this abnormal behavior, we performed a global gene expression analysis of coronal suture periosteal cells from seven AS patients (p.Ser252Trp), and matched controls. We identified 263 genes with significantly altered expression in AS samples (118 upregulated, 145 downregulated; SNR >or= |0.4|, P

Hydrocephalus due to diffuse villous hyperplasia of the choroid plexus. Case report and review of the literature.

Diffuse villous hyperplasia of the choroid plexus (DVHCP) that causes hydrocephalus by overproduction of cerebrospinal fluid is a very rare lesion and difficult to diagnose initially. We present a male infant who was diagnosed with communicating hydrocephalus at 16 months of age and treated initially by ventriculoperitoneal shunt. In the postoperative course, he developed massive ascites. Magnetic resonance imaging obtained after the operation revealed DVHCP. Resection of the choroid plexus of the left lateral ventricle was performed, and postoperatively, his ascites was resolved. We review the literature and discuss the diagnosis and treatment of this rare entity.

Craniopharyngioma involving the infrasellar region: a case report and review of the literature.

Craniopharyngiomas are most commonly located in the intradural suprasellar region. However, ectopic craniopharyngiomas can originate in the infrasellar region. The authors present the case of an 8-year-old boy diagnosed with a large cystic craniopharyngioma involving the nasal cavities and maxillary, ethmoid and sphenoid sinuses, in addition to the sella turcica. The primary symptoms of this patient were nasal obstruction, unilateral decreased visual acuity and exophthalmos. He subsequently underwent combined radical resection of the tumor by means of an endonasal transsphenoidal approach followed by radiation therapy. During the surgery, the dura mater of the sellar floor was found to be intact. The neuroradiological and surgical findings suggested that this tumor originated in the extradural infrasellar region and invaded the sella turcica.

Avaliação textural por ressonância magnética dos tumores da fossa posterior em crianças / Magnetic resonance imaging textural evaluation of posterior cranial fossa tumors in childhood

OBJETIVO: Possibilitar a distinção entre tecidos sãos e patológicos em pacientes da faixa etária pediátrica portadores de tumores da fossa posterior, por meio da análise de parâmetros texturais calculados a partir de imagens de ressonância magnética. MATERIAIS E MÉTODOS: Foram analisados 14 pacientes da faixa etária pediátrica, portadores de tumores da fossa posterior, através da definição dos valores texturais das regiões de interesse representando tecidos sãos e patológicos, com base em imagens de ressonância magnética pesadas em T2 pelo "software" MaZda. RESULTADOS: Houve diferença estatisticamente significativa entre os tecidos normal e tumoral, bem como entre os tecidos presumidamente normais adjacentes e distantes da lesão. Não foi possível a distinção entre edema e tumor. CONCLUSÃO: A avaliação textural por ressonância magnética é uma técnica útil para a determinação de diferenças entre diversos tipos de tecidos, inclusive entre áreas de tecidos presumidamente normais à análise visual.

OBJECTIVE: To distinguish healthy from pathological tissues in pediatric patients with posterior cranial fossa tumors using calculated textural parameters from magnetic resonance images. MATERIALS AND METHODS: We evaluated 14 pediatric patients with posterior cranial fossa tumors using the software MaZda to define the texture parameters in selected regions of interest representing healthy and pathological tissues based on T2-weighted magnetic resonance images. RESULTS: There was a statistically significant difference between normal and tumoral tissues as well as between supposedly normal tissues adjacent and distant from the tumoral lesion. CONCLUSION: Magnetic resonance textural evaluation is an useful tool for determining differences among various tissues, including tissues that appear apparently normal on visual analysis.

Síndrome de Russell: relato de dois casos / Russell's syndrome: report of 2 cases

Säo apresentados dois pacients portadores de tumores diencefálicos (teratoma indiferenciado e glioma pilocistico) que vieron a desenvolver síndrome de Rossell. os diagnósticos histológicos foram confirmados por biópsia estereotomográfica