Neurofibromatosis最新文献

A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.

The major and minor manifestations of tuberous sclerosis are reviewed and considerations for diagnosis of this complex and progressive disorder. Emphasis is placed on the extremely variable nature of tuberous sclerosis, as well as on its occasional fetal (or embryologic) onset.

Variable prevalence rates of damselfish neurofibromatosis (DNF) between Florida Keys reefs have previously been used as evidence against a genetic etiology of DNF in favor of an infectious etiology. Such a conclusion also presumes a genetically homogeneous population, that is, panmixia, throughout the reef system population. In order to address this issue, we conducted a survey of allozyme variation in two closely situated populations of the bicolor damselfish (Pomacentrus partitus) within the Florida Keys. The results suggest that gene flow between these two populations is restricted. Data analyses show significant heterogeneity in allelic frequencies at two enzyme-coding loci (ACO1 and ADH) and a relatively high estimate of genetic distance between samples from Little Grecian Rocks Reef and Grecian Rocks Reef. These preliminary findings are consistent with the hypothesis that the etiology of DNF is genetic. It is of some interest that these results are in contrast to previous studies of genetic differentiation among widely separated populations of coral reef fishes. Sufficient allozyme variation was detected (12 out of 23 loci were polymorphic) to allow for a subsequent rigorous assessment of panmixia in these populations at risk for DNF.

We describe two females who were diagnosed as suffering from the Albright syndrome early in childhood. Both have close relatives with neurofibromatosis; it has been established that one of the two, in fact, has von Recklinghausen neurofibromatosis, while it remains uncertain if the other one also has this disorder. Apart from the pattern of café-au-lait hyperpigmentation, these two patients have several symptoms in common: repeated and spontaneous bone fractures leading to pseudarthrosis, frontal bossing, and kyphoscoliosis. Distinguishing between the two diseases is important for genetic counseling since neurofibromatosis, in contrast to the Albright syndrome, is heritable.

The association between neurofibromatosis and visual pathway gliomas is well documented. The introduction of computed tomography and magnetic resonance imaging has heralded a new era in the understanding of visual pathway gliomas. Both of these noninvasive neuroinvestigative techniques have demonstrated extensive abnormalities throughout the visual pathway in children with visual pathway gliomas, especially in those with neurofibromatosis. The clinical significance of these abnormal areas of brain, especially in asymptomatic patients, is unknown. In an attempt to clarify the incidence, natural history, and clinical course of patients with neurofibromatosis and visual pathway lesions, we reviewed our experience with 24 patients managed consecutively at Children's Hospital of Philadelphia over the past 12 years. The patients in this series were compared to 29 children with visual pathway gliomas without neurofibromatosis who were evaluated at our institution over the same period of time. Visual pathway gliomas in children with neurofibromatosis differ from those in children without neurofibromatosis. In general, lesions tended to be more extensive in patients with neurofibromatosis and the clinical course of these patients is more variable. Twelve of the 24 patients with neurofibromatosis in our series had symptoms of progressive disease at the time of diagnosis and underwent treatment with variable results. Twelve children with neurofibromatosis and visual pathway lesions had static lesions at the time of diagnosis and, to date, 3 have developed progressive disease. From our review we can make some recommendations concerning the management of children with neurofibromatosis and visual pathway gliomas, but many questions remain unanswered. Sequential follow-up of a large cohort of both asymptomatic and symptomatic children with neurofibromatosis and visual pathway lesions is needed to more definitively outline the best management approach for these patients.

Von Hippel-Lindau disease (VHLD) is an autosomal dominant disorder characterized by cerebellar, spinal cord, and retinal hemangioblastomas; cysts of the kidney, pancreas, liver, and epididymis; and an increased frequency of renal cancer (renal cell carcinoma or hypernephroma), pancreatic cancer, and pheochromocytoma. Since expression of the disorder is markedly variable, patients presenting with only one of these abnormalities should be investigated further to determine if the lesion is isolated or is indicative of VHLD. A retrospective review of charts of patients diagnosed at the Mayo Clinic between 1976 and 1981 as having VHLD or a retinal or central nervous system hemangioblastoma demonstrates that adequate investigations were not performed routinely in patients presenting with either type of hemangioblastoma. Of 28 patients with an apparently isolated central nervous system hemangioblastoma, 21 patients had ophthalmologic examinations. Of 7 patients with retinal hemangioblastoma, only 3 had computerized tomography (CT) of the head. Among 35 patients with either isolated central nervous system or retinal hemangioblastoma, only 8 had intravenous pyelograms and none had ultrasonography or CT of the abdomen. Recently, there has been increasing awareness of the need for additional investigations in patients presenting with apparently isolated hemangioblastomas. However, not all physicians are aware of this need. Furthermore, it must be recognized that a family history of an isolated lesion may be the first clue that a person has undiagnosed VHLD.