[Gorlin-Goltz syndrome: review of the neuroradiological and maxillofacial features illustrated with two clinical cases]. / Síndrome de Gorlin-Goltz: revisão das características neurorradiológicas e maxilofaciais ilustradas com dois casos.

INTRODUCTION: Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is a rare hereditary autosomal-dominant disorder characterized by multiple basal cell carcinomas in young patients, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. This syndrome is due to mutations in PTCH1 (patched homolog 1 da Drosophila), a tumor suppressor gene. Diagnostic criteria were defined by Evans, revised by Kimonis and include major and minor criteria. The authors review in particular the neuroradiological and maxillofacial characteristics of the syndrome. CASE REPORT: The authors describe the clinical presentation of two children with Gorlin-Goltz syndrome without affected first degree relatives. In both the clinical suspicion of the syndrome is raised by the presence of multiple odontogenic cysts surgically removed. Histopathological exam revealed keratocysts. None of the patients has basal cell carcinomas but both present with skeletal anomalies, namely marked pectus deformity. DISCUSSION/CONCLUSION: The absence of major diagnostic criteria like basal cell carcinomas or palmar or plantar pits in young patients delay the early diagnosis and the correct screening for medulloblastoma, basal cell carcinomas and cardiac fibromas. Odontogenic keratocysts are the most consistent clinical finding in Gorlin-Goltz syndrome in the first one or two decades of life. These patients are very sensitive to ionizing radiation, being able to develop basal cell carcinomas and meningiomas. Treatment should accomplish the complete resection of the tumors.

Spontaneous hemorrhage in a lumbar ganglion cyst.

STUDY DESIGN: Case report. OBJECTIVE: To describe a case of a subacute radiculopathy resulting from a spontaneous hemorrhage into a lumbar ganglion cyst. SUMMARY OF BACKGROUND DATA: Ganglion and synovial cysts of the lumbar spine are becoming more frequent, and they are generally associated with degenerative lumbar spinal disease. Few cases of hemorrhage into lumbar juxtafacet cysts after trauma or anticoagulation therapy have been described in the literature. METHODS: A case of a spontaneous hemorrhage in a lumbar ganglion cyst is presented. RESULTS: A 61-year-old man presented with a 2-month history of intermittent bilateral lumbar ache. Eight days before admission he had a sudden exacerbation of the lumbar pain and began to fall frequently and noticed weakness and tingling in his lower members, mainly in the right leg. Magnetic resonance imaging scan revealed a hematic collection associated with a large juxtafacet cyst at the L4-L5 level. He was submitted to surgery and the cyst was totally removed. Microscopic examination was consistent with the diagnosis of a ganglion cyst. Two days after surgery he had already an independent gait. CONCLUSION: Although, there are a few descriptions of hemorrhagic lumbar justafacet cysts after trauma or anticoagulant therapy, this is the first case of a hemorrhagic ganglion cyst with no previous traumatic event or use of medication. Magnetic resonance imaging was essential for making the preoperative diagnosis. Neurosurgical cyst removal proved to be an effective treatment.