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Optic pathway gliomas in neurofibromatosis. 神经纤维瘤病中的视神经胶质瘤。
Neurofibromatosis Pub Date : 1989-01-01
A Pou-Serradell, A C Ugarte-Elola, J Llorens-Terol
{"title":"Optic pathway gliomas in neurofibromatosis.","authors":"A Pou-Serradell,&nbsp;A C Ugarte-Elola,&nbsp;J Llorens-Terol","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two patients, a 5-year-old girl and a 3-year-old boy, with documented neurofibromatosis (NF-1) and visual pathway gliomas are reported. In the first patient, the tumor was a typical pilocytic astrocytoma confined to the proximal half of the right optic nerve just near the globe. The tumor was excised; after a follow-up of 7 years recurrence has not occurred. The second patient had a glioma of the left optic nerve, with involvement of the chiasm, optic tracts, probably lateral geniculate body, optic radiations and basal ganglia. Biventricular hydrocephalus, possibly due to the occlusion of Monro's foramina, was also noted. In this case, magnetic resonance imaging (MRI) was superior to computed tomography for visualizing the posterior extension of the lesions. The patient received X-ray therapy and after a follow-up of 3 years the clinical symptomatology remains stationary. It is suggested that the optic pathway involvement detected by MRI may represent a dysplastic element NF-1 rather than a truly neoplastic change.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 4","pages":"227-32"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664061","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis. 半巨脑畸形、面肌肥厚和颅内脂肪瘤:神经纤维瘤病的一种变体。
Neurofibromatosis Pub Date : 1989-01-01
G W Ross, J Q Miller, J A Persing, H Urich
{"title":"Hemimegalencephaly, hemifacial hypertrophy and intracranial lipoma: a variant of neurofibromatosis.","authors":"G W Ross,&nbsp;J Q Miller,&nbsp;J A Persing,&nbsp;H Urich","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A case is presented of a 30-year-old, mentally retarded and epileptic patient, with a progressive hemifacial hypertrophy since birth. Repeated biopsies revealed the neurofibromatous nature of her facial lesion. Autopsy also revealed an ipsilateral hemimegalencephaly, as well as meningeal lipomas and osteomas. This combination of lesions represents an unusual variant within the spectrum of neurofibromatosis.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 2","pages":"69-77"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13660543","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multiple frontobasal meningoencephaloceles in neurofibromatosis. 神经纤维瘤病的多发额基底脑膜膨出。
Neurofibromatosis Pub Date : 1989-01-01
C Probst
{"title":"Multiple frontobasal meningoencephaloceles in neurofibromatosis.","authors":"C Probst","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A patient is reported who has multiple osseomeningeal defects and bilateral frontobasal encephaloceles in the context of a neurofibromatosis. After frontobasal revision with plastic closure of a cerebrospinal fluid fistula, the rhinoliquorrhea cleared, but there was an aggravation of a preexisting internal hydrocephalus with signs of raised intracranial pressure. The conditions were stabilized after various shunt operations. Additional diagnoses included a cyst (possibly a colloid cyst) in the anterior third ventricle and partial aplasia of the anterior trabecula. The particular problems in this case in relation to the spinal meningoceles already known in neurofibromatosis and spheno-orbital encephaloceles are discussed.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 4","pages":"233-7"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mast cell activity in normal human skin. 正常人体皮肤中的肥大细胞活动。
Neurofibromatosis Pub Date : 1989-01-01
R Giorno, J Lowe-Lieber, H N Claman
{"title":"Mast cell activity in normal human skin.","authors":"R Giorno,&nbsp;J Lowe-Lieber,&nbsp;H N Claman","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 1","pages":"42"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13772181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The 1989 George Krejci memorial Award. 1989年乔治·克雷奇纪念奖。
Neurofibromatosis Pub Date : 1989-01-01
V M Riccardi
{"title":"The 1989 George Krejci memorial Award.","authors":"V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"137"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Schematic representation of NF-1 clinical features in Dutch. 荷兰人NF-1临床特征示意图。
Neurofibromatosis Pub Date : 1989-01-01
P Fleury
{"title":"Schematic representation of NF-1 clinical features in Dutch.","authors":"P Fleury","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"174-5"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The Neurofibromatosis Medical Care Program of the Department of Pediatrics of Parma University. 帕尔马大学儿科神经纤维瘤病医疗护理项目。
Neurofibromatosis Pub Date : 1989-01-01
P Balestrazzi
{"title":"The Neurofibromatosis Medical Care Program of the Department of Pediatrics of Parma University.","authors":"P Balestrazzi","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 3","pages":"187-8"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Syndromology gone awry--the phenotypic overlap of NF-1 with the Noonan syndrome. 综合征学出了问题——NF-1与努南综合征的表型重叠。
Neurofibromatosis Pub Date : 1989-01-01
V M Riccardi
{"title":"Syndromology gone awry--the phenotypic overlap of NF-1 with the Noonan syndrome.","authors":"V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"249-50"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662451","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurofibromatosis update. 神经纤维瘤更新。
Neurofibromatosis Pub Date : 1989-01-01
V M Riccardi
{"title":"Neurofibromatosis update.","authors":"V M Riccardi","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This paper presents a review dealing with three major aspects of a modern understanding of the disorders known collectively as the neurofibromatoses (NF). In one section, the focus is on NF heterogeneity, clarifying the distinction between NF-1, NF-2 and atypical forms of NF. In another section, the focus is on NF-1 neural-crest tumors, with particular emphasis on the four types of neurofibromas (cutaneous, subcutaneous, nodular plexiform and diffuse plexiform), schwannomas, astrocytomas and neurofibrosarcomas. In the final section, focus is on NF-1 nontumor features, both as a clinical guide and as a reminder of the breadth of concerns that a pathogenetic schema will have to consider.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 5-6","pages":"284-91"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13662455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5). 父母患有节段性神经纤维瘤病的孩子的1型神经纤维瘤病(NF-5)。
Neurofibromatosis Pub Date : 1989-01-01
E Boltshauser, H Stocker, M Mächler
{"title":"Neurofibromatosis type 1 in a child of a parent with segmental neurofibromatosis (NF-5).","authors":"E Boltshauser,&nbsp;H Stocker,&nbsp;M Mächler","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF-1) was incidentally diagnosed in a 1-year-old girl. Her father was found to show the cutaneous signs of segmental neurofibromatosis (NF-5). This observation supports the possibility that subjects with NF-5 can transmit NF-1 to their offsprings in some cases, which has to be considered in genetic counseling.</p>","PeriodicalId":77754,"journal":{"name":"Neurofibromatosis","volume":"2 4","pages":"244-5"},"PeriodicalIF":0.0,"publicationDate":"1989-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13664065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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