1/24. Liver disease in Navajo neuropathy.OBJECTIVE: To describe clinical and histologic features of liver disease in infants and children with Navajo neuropathy (NN). methods: physicians at Navajo Area Indian health Service facilities and neurologists and gastroenterologists at regional referral hospitals were surveyed for identification of patients born between 1980 and 1994 with known or suspected NN. Clinical records and liver histologic findings were reviewed. RESULTS: Liver disease was present in all children with NN. Three clinical phenotypes of NN were observed, based on age at presentation and course: infantile NN presented in 5 infants before 6 months of age with jaundice and failure to thrive and progressed to liver failure before 2 years of age; childhood NN presented in 6 children between 1 and 5 years of age with liver dysfunction, which progressed to liver failure and death within 6 months; and classical NN presented in 9 children with variable onset of liver disease but progressive neurologic deterioration. Liver histologic findings were characterized by multinucleate giant cells, macrovesicular and microvesicular steatosis, pseudo-acini, inflammation, cholestasis, and bridging fibrosis and cirrhosis. Cases of all 3 phenotypes occurred within the same kindred. CONCLUSIONS: Liver disease is an important component of NN and may be the predominant feature in infants and young children. We propose changing the name of this disease to Navajo neurohepatopathy.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
2/24. Neurological recovery in a patient with recurrent aggressive giant cell tumour of the axis--a case report.A rare case of an aggressive recurrent giant cell tumour of axis is presented. The problems encountered in diagnosis and management are discussed. High dose dexamethasone was found to be useful managing this inoperable aggressive tumour which was compressing the cord. early diagnosis would facilitate wide excision of the tumour with good prognosis.- - - - - - - - - - ranking = 5keywords = giant (Clic here for more details about this article) |
3/24. Focal neurological deficits following spontaneous thrombosis of unruptured giant aneurysms.BACKGROUND: Giant aneurysms (GAs) must be regarded as dynamic lesions with respect to their growth and intraluminal thrombus formation, occasionally giving rise to thromboembolic events. Little is known about spontaneous thrombosis of unruptured GAs leading to focal neurological deficits which can mimic arteriosclerotic, epileptic or neoplastic disease. methods: Three patients (2 men, 27 and 68 years old, and 1 woman, 32 years old) presented with progressive neurological deficits. Neuroradiological studies showed unruptured GAs [two of the middle cerebral artery (MCA), one of the anterior communicating artery] displaying spontaneous near complete intraluminal thrombosis. In one of the cases with a giant MCA aneurysm, acute thrombosis was followed by infarction of the corresponding territory. RESULTS: Partial excision of the intraluminal thrombus was performed in the anterior communicating artery lesion. Wrapping followed by an extracranial-intracranial bypass and stepwise trapping successfully excluded one MCA lesion from circulation. The other MCA aneurysm was treated conservatively. All three patients showed full recovery neurologically after treatment. CONCLUSION: The reported clinical history of three patients who developed rapid focal progressive neurological deterioration following acute spontaneous thrombosis can be attributed to the acute swelling of the aneurysmal mass. Their pattern of consecutive rapid clinical improvement represents a previously undescribed clinical course of unruptured GAs.- - - - - - - - - - ranking = 5keywords = giant (Clic here for more details about this article) |
4/24. Endovascular treatment of unruptured intracranial aneurysms.BACKGROUND AND PURPOSE: Intracranial aneurysms are common, with an overall frequency ranging from 0.8% to 10%. Because prognosis after subarachnoid hemorrhage is still very poor, treatment of unruptured aneurysms, either neurosurgically or endovascularly, has been advocated. However, risk of rupture and subsequent subarachnoid hemorrhage needs to be considered against the risks of elective treatment. We analyzed the technical feasibility, safety, and efficacy of endovascular treatment of a consecutive series of unruptured cerebral aneurysms. methods: From July 1997 through December 2000, a total of 76 patients with 82 unruptured cerebral aneurysms were treated at our institution. Endovascular treatment was administered to 39 consecutive patients with a total of 42 unruptured cerebral aneurysms. Thirty-six aneurysms were treated with an endovascular technique; in six patients, the parent artery was occluded to eliminate aneurysmal perfusion. Aneurysms were located either in the anterior (n = 31) or posterior (n = 11) circulation. Eight patients had experienced previous subarachnoid hemorrhage from other aneurysms and were treated electively after complete rehabilitation. Ten patients had neurologic symptoms; in 21 patients, the aneurysm was an incidental finding. Eighteen aneurysms were small (0-5 mm), 11 were medium (6-10 mm), nine were large (11-25 mm), and four were giant (> 25 mm). Occlusion rate was categorized as complete (100%), subtotal (95-99%), and incomplete (< 95%) obliteration. RESULTS: Endovascular treatment was technically feasible for 38 of 42 aneurysms. Complete (100%) or nearly complete (95-99%) occlusion was achieved in 34 of 38 aneurysms. In four aneurysms of the internal carotid artery, only incomplete (< 95%) occlusion was achieved. All patients except one with mild neurologic deficits according to the glasgow outcome scale and one with mild memory dysfunction but no focal neurologic deficit achieved good recovery, resulting in a morbidity rate of 4.8% and a mortality rate of 0%. CONCLUSION: Endovascular embolization of unruptured cerebral aneurysms is an effective therapeutic alternative to neurosurgical clipping and is associated with low morbidity and mortality rates. For the management of unruptured aneurysms, endovascular treatment should be considered.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
5/24. genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1.giant axonal neuropathy is a rare severe autosomal recessive childhood disorder affecting both the peripheral nerves and the central nervous system. peripheral nerves characteristically show giant axonal swellings filled with neurofilaments. The giant axonal neuropathy gene was localised by homozygosity mapping to chromosome 16q24.1 and identified as encoding a novel, ubiquitously expressed cytoskeletal protein named gigaxonin.We describe a consanguineous Algerian family with three affected sibs aged 16, 14 and 12 years who present a mild demyelinating sensory motor neuropathy, hypoacousia and kyphoscoliosis which was moderate in the two elder patients, severe in the third one, with no sign of central nervous system involvement and normal cerebral magnetic resonance imaging. This clinical picture is different from the classical severe form, with kinky hairs and early onset of central nervous system involvement and from the less severe form, with protracted course and late involvement of central nervous system. Nerve biopsy showed a moderate loss of myelinated fibers and several giant axons with thin or absent myelin, filled with neurofilaments. This neuropathological aspect is similar to the previously described families linked to the gigaxonin gene. Genetic study in this family showed absence of linkage to chromosome 16q24.1, indicating for the first time, a genetic heterogeneity in giant axonal neuropathy. We propose to call this form of giant axonal neuropathy giant axonal neuropathy 2, and to use the name of giant axonal neuropathy 1 for the form linked to 16q24.1.- - - - - - - - - - ranking = 11keywords = giant (Clic here for more details about this article) |
6/24. Surgical strategies for treatment of giant or large intracranial aneurysms: our experience with 139 cases.Giant or large intracranial aneurysms are the vascular neurosurgeon's greatest challenge. At our department, we have treated one hundred and thirty nine patients with giant or large intracranial aneurysms between 1975 and 2001. These included 37 partially thrombosed giant aneurysms. 75 aneurysms were giant (> 2.5 cm) and 64 were large aneurysms (2-2.5 cm). Three-dimensional computed tomography angiograms were performed in patients besides MRI angiography and digital subtraction angiography. These were found to be very valuable in the preoperative assessment of surgical anatomy of the aneurysm with respect to the branch arteries and perforators origin besides knowing the relations to the skull base. With our experience in surgical treatment of these 139 cases, we find that the basic technique is trapping and evacuation and not just clipping of the aneurysm neck but also reconstruction of the artery bearing the aneurysm, especially with wide-necked aneurysms. Use of multiple clipping, tandem clipping or dome clipping as per the intraoperative situation, is very helpful in dealing with giant aneurysms as also is the use of different types of clips like fenestrated clip with straight clip (combination clipping), booster clip, dome clips etc. While selecting surgical strategy for partially thrombosed giant aneurysm, securing the neck is most important. If the neck is too narrow to reconstruct, aneurysmectomy with anastomosis is one of the surgical strategies. An extracranial intracranial bypass should be considered in cases where clipping or parent artery ligation is expected to be associated with compromise of cerebral circulation.- - - - - - - - - - ranking = 9keywords = giant (Clic here for more details about this article) |
7/24. Giant air cell of the petrous apex: a possible cause of facial hypalgesia.A giant air cell of the left petrous apex was found in a 23-year-old man with ipsilateral facial hypalgesia. The size of the giant air cell depicted on computed tomography was 1.5 x 2.0 x 2.0 cm. A coronal T1-weighted magnetic resonance image showed that the trigeminal nerve was compressed superomedially by a large signal void area that was probably a result of excessive pneumatization of the petrous apex. It is suggested that the facial hypalgesia was caused by the compression by the giant air cell of the petrous apex on the trigeminal nerve.- - - - - - - - - - ranking = 3keywords = giant (Clic here for more details about this article) |
8/24. An unusual presentation of rheumatoid meningitis.BACKGROUND: central nervous system involvement in rheumatoid arthritis can rarely occur in the absence of systemic disease. Rheumatoid meningitis has not been reported to present as spells of neurologic dysfunction. PATIENT AND methods: The authors describe a woman with a history of well-controlled rheumatoid arthritis who presented with headaches and spells of focal neurological dysfunction. brain magnetic resonance imaging, brain biopsy, and temporal artery biopsy were required to make the diagnosis of rheumatoid meningitis with arteritis. RESULTS: neuroimaging revealed abnormal leptomeningeal enhancement. Necrotizing granulomatous inflammation was seen on meningeal and brain biopsy. A temporal artery biopsy showed evidence of arteritis without giant cells. CONCLUSIONS: The possibility of central nervous system involvement by rheumatoid arthritis should be considered in patients with a history of rheumatoid arthritis even in the absence of systemic symptoms. Making the diagnosis may require meningeal and brain biopsy. The condition may be steroid responsive.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
9/24. giant axonal neuropathy: report on a case with focal fiber loss.We report on a 5 1/2 year-old boy with chronic progressive polyneuropathy, ataxia, and pyramidal signs. His hair was not curled. sural nerve biopsy disclosed many axons enlarged by accumulation of 10-nm neurofilaments and a marked variability in the number of myelinated fibers as well as in the amount of axonal enlargements among different fascicles. These findings and the electrophysiological data were consistent with a giant axonal polyneuropathy with a multifocal fiber loss.- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
10/24. giant axonal neuropathy (GAN): an immunohistochemical and ultrastructural study report of a Latin American case.giant axonal neuropathy (GAN), a progressive childhood disorder of intermediate filaments (IF), is characterized by a peripheral neuropathy and central nervous system involvement. Twenty-eight cases have been reported while several pathogenic hypotheses have been proposed. sural nerve biopsy of a 10-year-old Argentinian girl showed a reduced number of myelinated fibers as well as several enlarged axons up to 30 microns in diameter, thinly myelinated or devoid of myelin sheath, displaying accumulation of neurofilaments (NF), but few microtubules (MT) beneath the axolemmal membrane. There was IF accumulation in Schwann and perineural cells as well as in melanocytes, fibroblasts, pericytes, endothelial and epithelial cells in both nerve and skin biopsy. Our findings strongly support GAN as a generalized IF disorder with MT segregation from NF in giant axons. Abnormal NF phosphorylation is suggested by heavy immunostaining of enlarged axons by a monoclonal antibody to NF phosphorylated determinants (SMI 31-Sternberger's) and lack of reaction with a monoclonal antibody with different phosphoepitopes affinity (SMI 34-Sternberger's).- - - - - - - - - - ranking = 1keywords = giant (Clic here for more details about this article) |
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