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PubMed1992

Protrusio acetabuli in neurofibromatosis: nondysplastic and dysplastic forms.

Protrusio acetabuli (PA) in neurofibromatosis is not well documented in the literature. Two forms of PA, a nondysplastic and dysplastic type, are noted. Twenty-one percent of hips (13 patients) in neurofibromatosis were found to have some form of acetabular protrusion abnormality. In the control group (83 patients) without stigmata of neurofibromatosis, only 9% of hips were associated with PA. The progressive dysplastic form of PA is usually associated with contiguous soft-tissue neurofibromas and lumbar dural ectasia. The nondysplastic, nonprogressive form has less of an association with regional soft-tissue abnormalities and almost no association with dural dysplasia.

Acetabulum↗
PubMed2000

The neurofibromatosis-2 homologue, Merlin, and the tumor suppressor expanded function together in Drosophila to regulate cell proliferation and differentiation.

Neurofibromatosis-2 is an inherited disorder characterized by the development of benign schwannomas and other Schwann-cell-derived tumors associated with the central nervous system. The Neurofibromatosis-2 tumor suppressor gene encodes Merlin, a member of the Protein 4.1 superfamily most closely related to Ezrin, Radixin and Moesin. This discovery suggested a novel function for Protein 4.1 family members in the regulation of cell proliferation; proteins in this family were previously thought to function primarily to link transmembrane proteins to underlying cortical actin. To understand the basic cellular functions of Merlin, we are investigating a Drosophila Neurofibromatosis-2 homologue, Merlin. Loss of Merlin function in Drosophila results in hyperplasia of the affected tissue without significant disruptions in differentiation. Similar phenotypes have been observed for mutations in another Protein 4.1 superfamily member in Drosophila, expanded. Because of the phenotypic and structural similarities between Merlin and expanded, we asked whether Merlin and Expanded function together to regulate cell proliferation. In this study, we demonstrate that recessive loss of function of either Merlin or expanded can dominantly enhance the phenotypes associated with mutations in the other. Consistent with this genetic interaction, we determined that Merlin and Expanded colocalize in Drosophila tissues and cells, and physically interact through a conserved N-terminal region of Expanded, characteristic of the Protein 4.1 family, and the C-terminal domain of Merlin. Loss of function of both Merlin and expanded in clones revealed that these proteins function to regulate differentiation in addition to proliferation in Drosophila. Further genetic analyses suggest a role for Merlin and Expanded specifically in Decapentaplegic-mediated differentiation events. These results indicate that Merlin and Expanded function together to regulate proliferation and differentiation, and have implications for understanding the functions of other Protein 4.1 superfamily members.

Animals↗
PubMed2000

A new presentation of angiopathy in neurofibromatosis type 1.

Neurofibromatosis is a genetic condition characterized by localized over-growth of mesodermal and ectodermal tissues. Neurofibromatosis type 1 is characterized by cutaneous and skeletal abnormalities. Angiopathy is rare. We describe a new presentation of angiopathy in neurofibromatosis type 1. The patient presented with extensive bruising of the right side of her neck together with intra-oral and pharyngeal submucosal haemorrhage. Radiological investigation confirmed that an aneurysm of the right ascending pharyngeal artery had ruptured. This was successfully embolized without complication.

Aneurysm, Ruptured↗
PubMed1987

Malignant nerve-sheath neoplasms in neurofibromatosis: distinction from benign tumors by using imaging techniques.

Malignant peripheral nerve-sheath neoplasms frequently complicate neurofibromatosis causing pain, enlarging masses, or neurologic deficits. However, similar findings sometimes also occur with benign nerve neoplasms. Our study was done retrospectively to determine if imaging techniques can differentiate malignant from benign nerve tumors in neurofibromatosis. Eight patients with symptomatic neoplasms (three benign, five malignant) were studied by CT in eight, MR in six, and 67Ga-citrate scintigraphy in seven. Uptake of 67Ga occurred in all five malignant lesions but not in two benign neoplasms studied. On CT or MR, all eight lesions, including three benign neoplasms, showed inhomogeneities. Of five lesions with irregular, infiltrative margins on CT or MR, four were malignant and one was benign. Of three lesions with smooth margins, one was malignant and two were benign. One malignant neoplasm caused irregular bone destruction. Accordingly, CT and MR could not generally distinguish malignant from benign lesions with certainty. However, both CT and MR provided structural delineation to help surgical planning for both types of lesion. 67Ga scintigraphy appears promising as a screening technique to identify lesions with malignant degeneration in patients with neurofibromatosis. Any area of abnormal radiogallium uptake suggests malignancy warranting further evaluation by CT or MR. Biopsy of any questionable lesion is essential.

Adolescent↗
PubMed1988

Cranial MR imaging in neurofibromatosis.

Cranial MR images of 53 patients with neurofibromatosis were reviewed to determine the nature, extent, and number of intracranial abnormalities present. All patients studied met tentative definitions established for the diagnosis of neurofibromatosis. Twenty-three were scanned for evaluation of known CNS of cranial nerve involvement; the remainder were neurologically asymptomatic patients without suspected lesions referred for screening. Single lesions were noted in 32 patients. Multiple lesions were identified in 14 patients. Seven had normal scans. In 23 patients small focal areas of increased signal on T2-weighted scans within the brain were though to represent heterotopias. Eight patients had chiasmal gliomas and two had optic nerve gliomas. Nine patients had parenchymal gliomas, two had ischemic changes, and one had a colloid cyst. Extraaxial lesions included acoustic neuromas (five patients), meningiomas (four), trigeminal neurofibromas (one), and dysplasia of a sphenoid wing (two). Of the 30 asymptomatic patients referred for screening, lesions were found in 23. MR was found to be an excellent method of imaging known disease and of detecting lesions in asymptomatic patients. Because of the large number of asymptomatic lesions detected in this population, a screening MR study is recommended in patients with neurofibromatosis.

Adolescent↗
PubMed2004

Gastrointestinal stromal tumors in patients with neurofibromatosis: imaging features with clinicopathologic correlation.

OBJECTIVE: The purpose of this study was to evaluate the clinical, pathologic, and imaging features of gastrointestinal stromal tumors that occur in patients with neurofibromatosis. CONCLUSION: Gastrointestinal stromal tumors that occur in patients with neurofibromatosis commonly originate from the proximal small intestine and are often multiple. The cross-sectional imaging appearance of gastrointestinal stromal tumors that occur in patients with neurofibromatosis is similar to that of gastrointestinal stromal tumors that occur in the general population.

Adult↗
PubMed1997

Castleman's disease in a 44-year-old male with neurofibromatosis and pheochromocytoma.

A case of Castleman's disease in a patient with type I neurofibromatosis and pheochromocytoma is reported. The association of pheochromocytoma and neurofibromatosis is well documented, but uncommon. Castleman's disease has not been previously documented in a patient with neurofibromatosis or pheochromocytoma and may represent a previously unrecognized association of this disease. Castleman's disease is an interleukin-6 (IL-6) mediated B-cell proliferation. We postulate a relationship between pheochromocytoma IL-6 secretion and Castleman's disease. The relevant literature relating to this unusual case is reviewed.

Adrenal Gland Neoplasms↗
PubMed1985

Diffuse, multicentric neurogenic tumors in two macerated fetuses: a possible intrauterine form of neurofibromatosis.

Two tiny macerated fetuses with a remarkably similar pattern of multicentric neurogenic neoplasms of both paravertebral autonomic structures and peripheral nerves are described. Maceration precluded further histologic classification of the neoplasms in either fetus. The first fetus had a Meckel's diverticulum, short attachment of the small bowel mesentery, pulmonary hypoplasia, and intrauterine growth retardation. The second had the sympus bipus variant of sirenomelia sequence. The multicentric neoplasms in these two fetuses are very similar to those previously described in a few neonates and one stillborn with well-documented or suspected neurofibromatosis. It is reasonable to hypothesize that these two fetuses may represent an early intrauterine expression of neurofibromatosis characterized by multicentric neurogenic neoplasms of autonomic structures and peripheral nerves. Detailed examination of early abortuses, especially those from families with neurofibromatosis, may help to confirm or disprove the hypothesis.

Autonomic Nervous System Diseases↗
PubMed1986

Neurofibromatosis and associated neuroectodermal tumors: a congenital neurocristopathy.

The synchronous occurrence of neurofibromatosis and neuroblastoma has been labeled in the recent literature as a chance event. We report 2 cases of newborn infants with congenital neurofibromatosis and a similar midline pattern of multiple Schwann cell and neuroblastic tumors; other types of ectomesenchymal tumor differentiation are documented, along with supportive ultrastructural and immunohistochemical studies. The tumors may take an aggressive, fatal course despite maximal multimodality antitumor therapy. These 2 cases are reported, with additional literature review, to document a clinically recognizable neurocristopathy that links neuroblastic tumors and neurofibromatosis.

Adrenal Gland Neoplasms↗
PubMed1976

The incidence of scoliosis due to neurofibromatosis.

Cobb in 1950 stated that a high proportion of scolioses, classified as idiopathic, may be due to neurofibromatosis. This paper describes a retrospective study of a series of 3209 scoliosis cases to determine the incidence of neurofibromatosis. It was found to be just over 3 per cent. Two different clinical pictures of scoliosis were seen among the neurofibromatosis cases.

Adolescent↗
PubMed1996

Molecular genetic investigation of the neurofibromatosis type 2 tumor suppressor gene in sporadic meningioma.

The authors investigated the role of somatic mutations of the neurofibromatosis type 2 (NF2) gene in sporadic meningioma. Neurofibromatosis 2 is a dominantly inherited familial tumor syndrome predisposing affected patients to a variety of central nervous system tumors including vestibular schwannoma and meningioma. Neurofibromatosis type 2 is caused by germline mutations in the NF2 tumor suppressor gene. In addition, the authors and others have reported that somatic NF2 gene mutations occur frequently in nonfamilial vestibular schwannoma. In this study, molecular genetic analysis was performed on 23 nonfamilial meningiomas. Paired DNA samples extracted from the blood and tumors of the patients were analyzed for loss of heterozygosity (LOH) in the region of the NF2 gene on chromosome 22 using closely linked DNA markers. The NF2 gene mutations were sought by single-stranded conformation polymorphism analysis and DNA sequencing. Fourteen (61%) of 23 meningiomas showed LOH in the region of the NF2 gene on chromosome 22. Somatic NF2 gene mutations were detected in eight meningiomas (35%) after screening all 17 exons. All tumors with NF2 gene mutations showed simultaneous chromosome 22 LOH. Review of the histopathological findings of the cases studied did not demonstrate any predominance of genetic abnormalities in a particular histological type of meningioma. These results are compatible with the hypothesis that the NF2 gene acts as a tumor suppressor and that its inactivation is important in the pathogenesis of sporadic meningioma.

Chromosomes, Human, Pair 22↗
PubMedDate not supplied

Choroidal neurofibromatosis with congenital iris ectropion and buphthalmos: relationship and significance.

We report a case of unilateral buphthalmos in neurofibromatosis-1 without the other classical characteristics of the François syndrome (triad of unilateral buphthalmos, homolateral eyelid plexiform neuroma, and homolateral facial hemihypertrophy) and emphasize the difficulties in early diagnosis. The painful buphthalmic right eye was enucleated at the age of 13 months. Histopathology demonstrated diffuse choroidal neurofibromatosis in association with congenital iris ectropion syndrome. Cutaneous manifestations of neurofibromatosis subsequently developed in the patient and stigmata of the disease were later identified in other asymptomatic family members.

Choroid Neoplasms↗
PubMed1999

[Severe stenosis of the internal carotid artery and intracerebral hematoma associated with neurofibromatosis type 1: a case report].

Neurofibromatosis Type 1 produces a broad spectrum of clinical manifestations as a result of widespread dysplasia of mesodermal and neuroectodermal tissues. One of the most serious aspects of the disease relates to the arterial involvement that may occur. We report a case of severe stenosis of the internal carotid artery and intracerebral hemorrhage associated with neurofibromatosis Type 1. A 49-year-old female was admitted to our hospital after she had suddenly become comatose. On admission, she demonstrated a decerebrate posture in response to painful stimuli, and was assessed as grade 200 according to the Japan Coma Scale. Physical examination disclosed widespread cutaneous neurofibromas and cafe-au-lait spots. Computed tomography of the head revealed a right putaminal extensive hematoma, with a maximum diameter of 7 cm. The hematoma was removed. After this surgical treatment, cerebral angiography was performed. It showed severe stenosis of the terminal portion of the right internal carotid artery associated with a fine telangiectatic network, indicating the presence of moyamoya vessels in the basal ganglia. Although intracranial hemorrhage associated with neurofibromatosis type 1 is a rare condition, fine telangiectatic collateral vessels caused by occlusive cerebrovascular disease, intracranial aneurysms, brain tumors, or hypertension caused by pheochromocytoma or stenosis of the renal artery should be considered as the cause of hemorrhage.

Carotid Artery Diseases↗
PubMedDate not supplied

An unusual association of a rare variant of Friedreich's ataxia with type-I neurofibromatosis in a Nigerian Fulani family: a 5-year follow-up study.

A very rare form of heredofamilial spinocerebellar degenerative disorder is reported in a 12-year old boy and his 39-year old Fulani mother. The two cases were compatible with the clinical picture of Harding's variant of spastic ataxia of childhood--a clinical and genetic entity distinct from the more common Friedreich's ataxia. The mode of progression of the disease and the computed tomographic (CT) and electrophysiologic findings in both patients also support the diagnosis. In addition, the mother had the typical clinical picture of type-1 neurofibromatosis combined with the rare heredofamilial ataxic syndrome. The signs of neurofibromatosis could not be detected in her child. The cases were followed up regularly for 5 years with the aim of identifying possible complications. These cases are reported because of the extreme rarity of Harding's variant of heredofamilial ataxia and the rarity of the association of this disorder with type-1 neurofibromatosis.

Adult↗
PubMedDate not supplied

[Type I neurofibromatosis presenting as a progressive cervical myelopathy. The first case reported in Kaxinawa Indians].

INTRODUCTION: Type I neurofibromatosis is an autosomal dominant disorder with an estimated prevalence of 1/3,000. Half of the new cases are due to mutations; their penetration is complete in adults and may affect any ethnic group. We describe the first reported case of type I neurofibromatosis in a Kaxinawa Indian from the state of Acre, Brazil, in whom the presenting symptoms were of progressive tetraparesis due to multiple paraspinal neurofibromata. CLINICAL CASE: A 16 year old indigenous Kaxinawa boy presented with progressive myelopathy for the past six months. On neurological examination he had hyperreflexive spastic tetraparesia, predominantly on the right side, with the sensory level at C3/C4, multiple medullary automatisms and respiratory difficulty. He also had diffuse café-au-lait stains, including one particularly prominent one measuring 15 cm on his right buttock. MR of the spine showed many hypo-intense lesions at T1 and hyperintense lesions at T2, which took up contrast and were present at all the conjugation foramens bilaterally. These lesions originated at the roots and were suggestive of neurofibromata. On mediastinal tomography there were several neurofibromata in the mediastinum. The patient had a surgical operation for spinal decompression, with a laminectomy at C1/C2 and removal of the neurofibromata on the spinal cord at C1 and C2. The patient has a sister with multiple café-au-lait stains. CONCLUSIONS: Because of the traditional isolation of the Kaxinawa Indians, with whom contact was made at the beginning of the twentieth century, this first case reported of type I neurofibromatosis may be due to a new mutation which presented as a florid form of the disease with multiple spinal neurofibromata.

Adolescent↗
PubMed1979

Cutaneous melanoma in a patient with neurofibromatosis.

Although neurofibromatosis and cutaneous melanoma are both diseases of neuroectodermal origin, reports of their association are rare. The case history of a patient with histologically documented neurofibromatosis and a nodular melanoma unrelated to a cafe-au-lait spot or congenital nevus is reported, and the literature reviewed. The appearance of only one patient with neurofibromatosis in a series of 900 patients with melanoma suggests that these diseases are probably not associated with greater frequency than that predicted by chance alone.

Adult↗
PubMed2000

[CO2-laser therapy of stigmatizing cutaneous lesions in tuberous sclerosis (Bourneville-Pringle) and in neurofibromatosis 1 (von Recklinghausen)].

Tuberous sclerosis (Bourneville-Pringle) and type I neurofibromatosis (von Recklinghausen) are familial multiple tumour syndromes. Both entities have in common that the cutaneous manifestations can stigmatize the carriers and considerably reduce the quality of life. CO2-laser surgery (vaporisation) consistently yields good to excellent aesthetic results in the treatment of adenoma sebaceum in tuberous sclerosis. Patients with type I neurofibromatosis who carry several hundreds neurofibromas usually benefit from a numerical reduction in their skin lesions, despite the less predictable aesthetic result, ranging from excellent to fair. The present study reports on the treatment outcome of CO2-laser surgery in 8 patients with adenoma sebaceum and 8 with neurofibromatosis.

Adolescent↗
PubMed2002

[Difficult surgical management of facial neurofibromatosis type I or von Recklinghausen disease in children].

We report a case of predominantly facial neurofibromatosis type I in a 7-year-old girl, exposing the difficulties encountered in surgical management. Infiltration of facial soft tissues by plexiform neurofibroma is difficult to control. Resection of large areas of facial skin is unconceivable, facial functions must be preserved. Orbitocranial surgery is reserved for orbital manifestations of neurofibromatosis with osseous sphenoid dysplasia and pulsatile exophthalmos. Despite progress in tumor imaging and surgery, facial neurofibromatosis remains a challenge for the surgeon. We discuss surgical technique and indications for surgery in these cases.

Child↗