1/4. The giant axonal neuropathy--clinical and hisotological aspects, differential diagnosis and a new case.The giant axonal neuropathy (GAN) is morphologically characterized by axonal swellings and accumulations of neurofilaments in giant axons and other cell types. Curly hair is not a constant finding. The clinical course is progressive and mostly starts in early childhood. We report the case of a boy aged 6 years at the time of sural nerve and muscle biopsy. Suralis nerve showed a reduced numerical density of myelinated fibres with a consecutive endoneural fibrosis. Morphometric investigation revealed a pronounced reduction of fibres measuring 8-12 microm in diameter. Giant axons were seen in relatively low number and were not very large with a maximum diameter of 18 microm. They had a relatively thin myelin sheet proved also by the high G ratio in the histogram. Many onion bulb formations of schwann cells were present. There are only few reports of giant axons with such low maximum diameter in cases with GAN, the lowest maximum diameters being reported in case reports on Japanese children. Up to now, this is the first report of a non-Japanese patient with a low maximum diameter of giant axons of less than 20 microm in peripheral nerve biopsy. Ultrastructurally, typical accumulations of neurofilaments and osmiophilic aggregates were found in giant axons. Other diagnoses with occurrence of giant axons could be excluded in view of the absence of specific findings. Sporadic or familial cases with giant axons are discussed. Sceletal muscle biopsy (M. quadriceps femoris) showed neurogenic affection with presence of small angulated atrophic muscle fibres.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/4. Multimodality management of a giant cell tumor arising in the proximal sacrum: case report.STUDY DESIGN: Descriptive. OBJECTIVE: To outline a novel multimodality approach for a difficult surgical resection of a giant cell tumor in the cephalad portion of the sacrum. SUMMARY OF BACKGROUND DATA: giant cell tumors of the sacrum are rare primary bone tumors. Recent reports have demonstrated diminished giant cell tumor recurrence with cryosurgery by using a "direct pour" technique with liquid nitrogen. Although successful in decreasing tumor recurrence, this technique is accompanied by a 4%-8% rate of skin necrosis and high rates of pathologic fracture. The authors describe resection and a novel, controlled method of argon-based cryotherapy (followed by a unique pelvic reconstruction) for a large, difficult giant cell tumor of the sacrum. methods: A 29-year-old woman presented with complaints of right foot drop and decreased sensation of the right buttock, posterior thigh, posterior calf, and lateral aspect of the right foot. Radiographic evaluation revealed a mass in the right sacrum; histologic examination of CT-guided biopsy revealed a giant cell tumor. A combined anterior abdominal and posterior sacral approach was performed, the tumor was resected, and the margin of the cavity was treated with controlled argon-based cryotherapy. The combination of thermocouples, electromyographic monitoring, and rapid freeze-thaw cycles allowed a controlled ablation of the tumor margin while ensuring that surrounding structures, such as the rectal wall, sacral nerves, and gluteal muscles, were not damaged. Posterior spinal fusion L4 to sacrum, posterior spinal instrumentation L4 to pelvis, and allograft reconstruction of the right sacrum were performed. RESULTS: The patient recovered well without skin necrosis or pathologic fracture. Urinary and fecal continence were preserved. At the 20-month follow-up the patient has no evidence of local tumor recurrence and is fully ambulatory without a brace or narcotic medication. CONCLUSION: A novel multimodality approach, consisting of resection, controlled cryosurgery, and a unique lumbopelvic reconstruction, was safe and successful in managing a challenging proximal sacral giant cell tumor. Twenty months after surgery the patient has excellent bowel and bladder control, no tumor recurrence, and functional ambulation without a brace or pain.- - - - - - - - - - ranking = 0.81818181818182keywords = giant (Clic here for more details about this article) |
3/4. Rendu-Osler-Weber disease with a giant intracerebral varix secondary to a high-flow pial AVF: case report.BACKGROUND: Intracranial varices are rare and most are associated with vein of Galen arteriovenous malformations (AVM) or fistulas (AVF). DESCRIPTION: A 43-year-old left-handed man presented with right hemihypesthesia and spastic gait. Neuroradiological examination revealed a spinal AVF and a giant intracerebral varix associated with a high-flow pial AVF. He had recurrent episodes of nasal bleeding, which were also confirmed in his mother's medical history, and telangiectases in the tip of his tongue and fingers. He was diagnosed with Rendu-Osler-Weber disease. After resection of the spinal AVF that produced his symptoms, we surgically exposed and obliterated the giant varix and AVF under intra- and postoperative hypotension and mild barbiturate therapy. The arteriovenous shunt was completely obliterated without hyperperfusion of the surrounding brain. CONCLUSION: This is an extremely rare case of Rendu-Osler-Weber disease with a giant intracerebral varix secondary to a high-flow pial AVF that did not involve the vein of Galen.- - - - - - - - - - ranking = 0.63636363636364keywords = giant (Clic here for more details about this article) |
4/4. thalidomide neuropathy in childhood.thalidomide was withdrawn from world markets in 1961 following recognition of its teratogenic effects. More recently, however, thalidomide treatment has been reintroduced to adult and paediatric practice for a variety of dermatologic, immunologic, rheumatologic and neoplastic disorders. Neuropathy is a significant side effect of thalidomide therapy, which may limit its clinical use. We report four cases of sensorimotor axonal neuropathy in children aged 10-15 years, treated with thalidomide for myxopapillary ependymoma, Crohn's disease and recurrent giant aphthous ulceration. thalidomide neuropathy is often associated with proximal weakness and may progress even after discontinuation of treatment, in the phenomenon of 'coasting'. Children treated with thalidomide should undergo regular neurophysiologic studies in order to detect presymptomatic or progressive peripheral neuropathy.- - - - - - - - - - ranking = 0.090909090909091keywords = giant (Clic here for more details about this article) |