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PubMed1989

Cotrel-Dubousset instrumentation in neurofibromatosis spine curves. A preliminary report.

Five patients with neurofibromatosis-induced scoliosis and dystrophic vertebral bodies were treated surgically with Cotrel-Dubousset instrumentations. The surgical approaches included posterior only, anterior and posterior, and multistage procedures. Three of the five patients showed a progression of their scoliosis despite the instrumentation and fusions. One had a significant progression that may require additional surgery. Scoliosis associated with neurofibromatosis dystrophic vertebral bodies causes a curve progression that should be treated aggressively with anterior and posterior fusions. Careful follow-up observation is mandatory in neurofibromatosis patients because of the tendency for extraordinary progression with growth.

Adolescent↗
PubMed1989

[Abdominal localizations of von Recklinghausen's neurofibromatosis: apropos of a false uterine leiomyosarcoma].

This article reports the surprising history of a patient presenting a von Recklinghausen neurofibromatosis. Ten years after a full program of radio- and chemotherapy for a so-called invasive uterine leiomyosarcoma, the diagnosis of intestinal neurofibromatosis is finally established and the patient is surgically cured. The authors discuss the difficulties of the histologic diagnosis and the aid of the recent techniques of immunohistochemical markers. The second part of the article provides the actual clinical classification of the different types of neurofibromatosis with their diagnostic approach. It also offers a review of the literature concerning the intestinal location of the disease and the potential risks of cancer formation.

Abdominal Neoplasms↗
PubMed1989

[Neurofibromatosis in pediatrics].

The diagnostic criteria and complications of neurofibromatosis (Von Recklinghausen's neurofibromatosis or peripheral neurofibromatosis) are summarized. Patients and their relatives were studied in pediatric departments of the University Hospitals at Amsterdam (n = 23) and Rotterdam (n = 39) using a multidisciplinary approach and a standardized protocol. This comprehensive evaluation enables improved detection of serious complications and their management, and information to the parents about this highly variable disorder. Also, more insight is obtained into the natural history of the disease. Genetic counseling and family studies will become more precise in the near future, now the gene for NF I has been localised on chromosome 17, and for NF II (central NF) on chromosome 22, enabling DNA-marker studies.

Adolescent↗
PubMed1989

[Von Recklinghausen's neurofibromatosis and pregnancy. Apropos of a case].

Having seen a personal case and having reviewed the literature, we clarify the details when neurofibromatosis and pregnancy occur together. Few cases of this combination of conditions have been reported. The complications can be serious and have led some authors to suggest that the pregnancy should be terminated in every case and that the patient should be sterilised. Sometimes the only risk is hypertension of pregnancy, which is what occurred in our case. Its progress was benign and according to the literature this seems to be the most usual outcome. All the same, because it is possible that complications can occur in any case of neurofibromatosis in pregnancy, pregnant women with neurofibromatosis should be placed in a high-risk group which has to be watched very carefully.

Adult↗
PubMed1989

Summary of patient data from a multidisciplinary neurofibromatosis clinic.

The Neurofibromatosis Clinic of the Children's Hospital Medical Center in Cincinnati, Ohio, is a multidisciplinary clinic which provides comprehensive care for persons affected with neurofibromatosis. Data are presented on 78 patients who fulfill the diagnostic criteria for neurofibromatosis-1. The information reported includes patient characteristics, complications and testing results.

Clinical Protocols↗
PubMed1989

Neurofibromatosis, Charcot-Marie-Tooth disease, or both?

The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders.

Adult↗
PubMed1987

Orbital neurofibromatosis.

The origin of neurofibromatosis (the neuroectoderm, the mesectoderm, or both primordia?) is not known. The protean manifestations of the disease cannot be explained, and classification of the various forms of orbital neurofibromatosis on the basis of specific neural involvement has never been attempted. Further studies of the pathogenesis are therefore urgently needed. Differentiation between types of orbital tumors may benefit from advanced computer scanning and nuclear magnetic resonance techniques. The results of surgical treatment, although much improved in recent years, are still unsatisfactory. Concentration of patients with neurofibromatosis in specialized centers is therefore indicated.

Face↗
PubMed1988

Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.

This paper reviews the concepts of penetrance and expressivity and examines their application to the specific disorder von Recklinghausen neurofibromatosis. The data suggest that assessments of penetrance among predecessors to probands yield results different from those of assessments of penetrance among descendants to probands. For descendants at risk, penetrance is very close to 100%. For predecessors at risk, extremely variable expressivity may confound estimates of penetrance; as a specific example, a family is described in which two brothers have bona fide von Recklinghausen neurofibromatosis and their mother manifests the neurofibromatosis mutation only as iris Lisch nodules.

Female↗
PubMed1988

Ventriculomegaly in neurofibromatosis-1. Association with Chiari type I malformation.

Two cases of von Recklinghausen neurofibromatosis with a hitherto unreported association of ventriculomegaly and a Chiari type I malformation are described. Both cases had skeletal abnormalities at the cervicomedullary junction, contributing to neurological symptoms in 1. The literature on nontumor-related ventriculomegaly in neurofibromatosis is reviewed. The Chiari type I malformation should be considered as a cause of nontumoral ventricular enlargement in patients with von Recklinghausen neurofibromatosis.

Adult↗
PubMed1988

Guidelines for organizing a comprehensive neurofibromatosis program.

As neurofibromatosis receives increasing amounts of attention in both clinical and research terms, there is an even greater need to organize comprehensive neurofibromatosis programs that will capitalize on the advances being made. Based on the experience of the Baylor NF Program, a model for establishing and operating comprehensive neurofibromatosis programs is presented and discussed.

Comprehensive Health Care↗
PubMed1988

Diagnosis of von Recklinghausen neurofibromatosis and the Albright syndrome. Two case reports.

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.

Adult↗
PubMed1977

Neurofibromatosis with central neurofibroma of the mandible: review of the literature and report of case.

The clinical, radiographic, and etiological factors of neurofibromatosis have been discussed. A rare case of a large neurofibroma of the mandible in association with systemic neurofibromatosis and a characteristic mandibular dysplasia has been presented. The unique coexistence of mandibular dysplasia associated with sphenoidal and orbital dysplasia should be considered in the diagnosis of multiple neurofibromatosis.

Bone Diseases↗
PubMedDate not supplied

Buphthalmos in neurofibromatosis: is it an expression of regional giantism?

A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional giantism rather than a consequence of uncontrolled intraocular pressure.

Adult↗
PubMed1982

Liposarcoma complicating neurofibromatosis. Report of two cases.

Liposarcoma complicating neurofibromatosis is a rare entity. Until now, only two cases have been reported in the literature. The authors present two new cases of liposarcoma arising in generalized neurofibromatosis with detailed microscopic findings. Other neoplasms associated with neurofibromatosis are also discussed.

Adolescent↗
PubMed1983

Malignant bone tumors associated with neurofibromatosis.

Neurofibromatosis (von Recklinghausen's disease), a phakomatosis inherited as an autosomal-dominant trait, predisposes to multiorgan neoplasia as well as to skeletal abnormalities. In an attempt to define more clearly the nature of osseous malignant lesions associated with von Recklinghausen's disease, we reviewed three cases of coexistent neurofibromatosis and malignant tumors of bone. None of the tumors was considered neurogenic. One patient had a fibrosarcoma, and two patients had malignant fibrous histiocytomas. No gross relationship to nerves was demonstrated, and special studies for axons were negative. Primary neurogenic sarcomas of bone are extremely rare; the diagnosis should be considered only when the tumor originates from an intraosseous nerve or contiguous neurofibroma. The occurrence of primary bone sarcomas in patients with neurofibromatosis seems to be a sporadic event.

Adult↗
PubMed1983

[Calcitonin-producing duodenal carcinoid in Recklinghausen's neurofibromatosis. Clinical case report and review of the literature].

In a 32-year-old woman presenting with fever, vomiting and right upper abdominal pain a tumor of the papilla of Vater was detected endoscopically and removed surgically. Histologically it was a carcinoid shown immunohistochemically to produce calcitonin. The tumor had metastasized to a lymph node in the hepatoduodenal ligament. Clinically the patient showed typical signs of von Recklinghausen neurofibromatosis. A survey of the literature suggests that carcinoid of the papilla of Vater may be more frequent in patients with neurofibromatosis. Possible relationships between neurofibromatosis and carcinoid are discussed in the light of the pertinent literature.

Adult↗
PubMed1983

Renovascular hypertension in pediatric patients with neurofibromatosis.

Vascular lesions in addition to pheochromocytoma are now recognized as causes of hypertension associated with neurofibromatosis. We have analyzed hospital charts of 106 pediatric patients with neurofibromatosis, eight of whom were noted to have been hypertensive on at least one occasion. Of these eight patients, five had vascular lesions involving the renal vasculature, one had obstructive uropathy and two had transient hypertension associated with traction and pain. Approximately 5% of pediatric patients with neurofibromatosis have vascular lesions causing hypertension.

Child↗
PubMed1984

[Multiple cerebrovascular occlusive disease associated with neurofibromatosis].

Multiple cerebrovascular occlusive disease is rarely seen in patients with neurofibromatosis. Two cases of such lesions are presented and literatures dealing with the clinical and angiographical aspects of this occlusive disease are reviewed. Case 1; A 38-year-old normotensive man had sudden onset of vomiting, left hemiparesis and disturbance of consciousness, one day before the admission. He had family history of neurofibromatosis, and examination showed café au lait spots over the body. CT scans revealed a subcortical hematoma in the right temporal lobe. Angiogram revealed multiple occlusive lesions of the cerebral arteries, including occlusions of the right internal carotid artery (ICA) at the distal end, middle (MCA) and anterior (ACA) cerebral artery at the proximal portion, and stenosis of the left ICA and ACA. Abnormal vascular networks at the base of the brain were also seen bilaterally. Decompressive craniectomy, removal of the hematoma and bilateral ventricular drainage were performed. Postoperative course was excellent. Angiogram performed five and a half years later, during which time without any surgical procedures, demonstrated no apparent angiographic differences from the previous one. Case 2; A 29-year-old woman without family history of neurofibromatosis presented with sudden onset left hemiparesis. Café au lait spots were found over the body. A CT scan revealed small infarctions in the territory of the right MCA, and angiogram demonstrated multiple occlusive lesions of the cerebral arteries, including stenosis of the bilateral ICA, the left MCA, both ACAs at the proximal portion, and the right posterior cerebral artery, and occlusions of the right MCA.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗