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PubMed1990

Central neurofibromatosis: a clinical-pathological correlation.

Central neurofibromatosis is a genetic disorder of neural crest tissue derivatives that includes bilateral acoustic neuromas and other central nervous system tumors, usually meningiomas or gliomas. This is different from peripheral neurofibromatosis because of the primary central nervous system manifestations and frequent lack of accompanying peripheral neurofibromas and café au lait spots as well as different alterations of nerve growth factor. We present the temporal bone histopathology of a unique case of unsuspected central neurofibromatosis that included bilateral acoustic neuromas invading the cochlea and an asymptomatic glioblastoma multiforme occurring in the absence of a family history and without any accompanying peripheral stigmata of neurofibromatosis. As bilateral tumors frequently invade the cochlea, the modified transotic rather than the translabyrinthine approach is recommended for complete tumor removal. Contralateral tumor removal should be delayed while useful hearing remains.

Brain Neoplasms↗
PubMedDate not supplied

High-intensity basal ganglia lesions on T1-weighted MR images in neurofibromatosis.

Basal ganglia lesions, characterized on MR by increased signal intensity on T1-weighted images, were observed in seven patients with documented neurofibromatosis. These lesions most often involved the globus pallidus and internal capsules in a bilateral and symmetric fashion, and extended across the anterior commissure resulting in a "dumbbell" configuration. Smaller and less prominent foci of increased signal also were present on corresponding T2-weighted images. These lesions did not exhibit mass effect, edema, or enhancement with gadolinium-DTPA. They were not visible on CT (performed in two patients) and demonstrated no progression during a 2-year interval in three patients. Their signal characteristics and morphology suggest that they represent heterotopias containing Schwann cells and/or melanin deposits. Migrational abnormalities of these neural crest derivatives are known to occur in neurofibromatosis, and the presence of such heterotopias has been documented pathologically in patients with this disorder. While recent reports discuss foci of increased signal intensity on T2-weighted MR images in patients with neurofibromatosis, signal abnormalities on T1-weighted images have not yet been described. When lesions characterized by similar signal as well as morphologic characteristics are encountered on MR, the diagnosis of neurofibromatosis should be considered.

Adolescent↗
PubMed1989

Autosomal dominant familial angiolipomatosis clinically mimicking neurofibromatosis.

The autosomal dominant form of familial angiolipomatosis may be mistaken for peripheral neurofibromatosis (NF-1) due to the similarity of the family history and the occurrence of multiple subcutaneous masses, but histopathological examination of the tumors readily distinguishes these two diseases. We report here a case of familial angiolipomatosis, which was initially though to be neurofibromatosis, and the occurrence in this patient of a granular cell tumor similar to such tumors occasionally seen in neurofibromatosis. A review of the literature discloses intriguing parallels between familial angiolipomatosis and neurofibromatosis, suggesting that similar pathogenetic mechanisms may operate in both diseases.

Adult↗
PubMed1986

The association of neurofibromatosis, pheochromocytoma, and somatostatin-rich duodenal carcinoid tumor.

The association of neurofibromatosis and pheochromocytoma is well recognized; more recently, attention has been drawn to links between neurofibromatosis, pheochromocytoma, and ampullary somatostatin-rich carcinoid. Because of this association, the duodenum was explored during a recent laparotomy for resection of bilateral pheochromocytoma in a patient with von Recklinghausen's disease. A clinically unsuspected ampullary tumor was discovered; this proved to be in part a ganglioneuroma and in part a somatostatin-rich carcinoid. This paper presents full details of this carefully investigated and documented case and reviews the recent advances in this field. These studies lead us to conclude that: the clinical association of neurofibromatosis, pheochromocytoma, and D cell carcinoids ("somatostatinomas") of the ampullary region is confirmed; this association may be more common than has been previously thought, and the duodenum should be carefully examined in any patient with neurofibromatosis who undergoes laparotomy for pheochromocytoma.

Adrenal Gland Neoplasms↗
PubMedDate not supplied

Neurofibromatosis in pregnancy. Four case reports and review of the literature.

Neurofibromatosis (Recklinghausen's disease) is an autosomal dominant disorder that affects multiple organ systems. The disease usually manifests itself during puberty although it occasionally occurs during infancy and childhood. Pregnancy seems to exacerbate the condition. Four cases of neurofibromatosis during pregnancy are presented. Three of the patients had uneventful pregnancies and deliveries, and the fourth had severe thrombocytopenia. This complication has not previously been reported in association with neurofibromatosis in pregnancy. By close supervision of pregnant patients with neurofibromatosis, most complications can be avoided.

Adult↗
PubMed1987

Neurofibromatosis and Albright's syndrome.

For both NF and Albright's syndrome, the pathogenetic relationships between the various elements of the respective syndromes remain a mystery, and the importance of nontumorous endocrine abnormalities in neurofibromatosis has, in my opinion, been overstated. Nonetheless, the parallel between the two disorders is striking, and the consistent occurrence of skin and skeletal dyplasias in both suggests that a search for the fundamental defect in either can be advanced by focusing on what is common to these two types of tissue. For example, how does one reconcile a disturbance of the melanosome with skeletal aberrations? An answer to that question will put us on the right track. One final question must be asked. Are neurofibromatosis and Albright's syndrome alternate manifestations of the same disorder? In a trivial sense, the answer may be yes. That is, in at least some instances, one condition may have been mistaken for the other, and thus a factitious overlap or "sameness" misconstrued. Upon closer scrutiny, however, there are two important points that would cast doubt on a positive response to this question: Neurofibromatosis, or at least neurofibromatosis I, is heritable as an autosomal dominant trait, whereas heritability has not been documented for Albright's syndrome; and I am unaware of reported cases that describe both disorders, diagnosed by criteria beyond café au lait spots and bone dysplasia, in one and the same individual, although such a case has been shared with me by S. A. Sorensen, M.D., of the Genetics Institute of Copenhagen, Denmark. The full reporting of such a case would be of great interest.

Fibrous Dysplasia of Bone↗
PubMed1987

[Segmental neurofibromatosis].

Two additional cases of segmental neurofibromatosis (type V) are reported. This form of neurofibromatosis is manifested by neurofibromas or cafe-au-lait spots in a dermatomal or segmental distribution. Previously reported cases are reviewed. Their clinical manifestations, prognosis and the relationship between the classical neurofibromatosis and segmentary neurofibromatosis are discussed.

Adult↗
PubMed1988

Transmissibility of a neurofibromatosis-like disease in bicolor damselfish.

A neoplastic disease that affects a common species of marine fish, the bicolor damselfish (Pomacentrus partitus), on Florida reefs consists of multiple, disseminated neurofibromas (including plexiform lesions), malignant schwannomas, and hyperpigmented epidermal lesions. Based on similarities to von Recklinghausen neurofibromatosis, we have termed this disease damselfish neurofibromatosis. Previous surveys of the prevalence of fish with damselfish neurofibromatosis on Florida reefs demonstrated a distribution pattern of cases consistent with what would be expected for an infectious disease. The transmissibility of damselfish neurofibromatosis was assessed by inoculations of homogenized tumor tissue s.c. and i.p. into healthy bicolor damselfish. This protocol resulted in the development of Schwann cell tumors, identical to the naturally occurring lesions, at the injection sites in approximately 84% of inoculated fish. These tumors appeared within an average of 5 mo of inoculation for juvenile fish and 14 mo for adults. Experimentally produced tumors appeared to arise in host fish by the neoplastic transformation of host nerves rather than by transplantation and proliferation of tumor cells from the donor fish. This finding suggests that an infectious, transmissible agent such as a virus may be the etiological agent responsible for production of neurofibromas and other Schwann cell tumors in this species of fish.

Animals↗
PubMed1988

Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.

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.

Chromosomes, Human, Pair 12↗
PubMed1984

Neurofibromatosis and hypertelorism.

Hypertelorism was observed in eight of 34 patients with neurofibromatosis. This diagnosis was made by measuring the intercanthal distance and calculating the interpupillary distance from it. The bones of the base of the skull and of the face are mesenchymal structures of neural crest origin. Skull dysplasias, in which hypertelorism can be included, fit well into the neurocristopathy concept of neurofibromatosis. Hypertelorism seems to herald a severe expression of neurofibromatosis, eg, with brain involvement, and would therefore be an indication for doing a computed tomographic scan. The high prevalence of hypertelorism in our group of patients (24%) makes its direct association with neurofibromatosis highly feasible. Its ease of clinical recognition and its presence at birth would make it a valuable early diagnostic criterion.

Adolescent↗
PubMed1982

[Atlantoaxial dislocation in neurofibromatosis.--Report of three cases--].

Atlantoaxial dislocation has received little attention in many studies of spinal deformity in neurofibromatosis. The only four cases of atlantoaxial dislocation associated with neurofibromatosis has been previously reported in the literature. We reported three rare cases of atlantoaxial dislocation associated with neurofibromatosis. These characteristics in roentgenogram were as follows; (1) marked narrowing of sagittal diameter at C1 level without instability (instability index 0%) (2) association with other mesodermal dysplasia, such as posterior vertebral body scalloping, vertebral body dysplasia, dural ectasia etc. Neurofibromatous tissue was found around the anterior region of the odontoid process in one of our three patients. We speculate that atlantoaxial dislocation in neurofibromatosis may be due to mesodermal dysplasia. On the other hand, a neurofibroma was found around the anterior region of the odontoid process in our third case. Therefore, there is a possibility that atlantoaxial dislocation in the instance was caused by the neurofibroma involving transverse atlantal ligament.

Adult↗
PubMed1994

[Cerebral atrophy of vascular origin in the course of neurofibromatosis].

The authors report the case of a 39-year-old woman with type I neurofibromatosis who presented a right incomplete proportional hemiplegia which progressively worsened over a 6-month period. Left hemispheric atrophy with heterogeneous features, predominant in the temporoparietal region, was revealed by computerized tomography. Atrophy was associated with diffuse vascular lesions in the distal part of the left sylvian and anterior cerebral arteries, leading to major cortical hypoperfusion. Vascular examination showed no hypertension nor any sign of arterial involvement in another region. This case illustrates the nature of vasculopathy associated with neurofibromatosis. Its expression is polymorphous, with lesions inducing stenosis (the most common ones), aneurysmal lesions or veritable angiodysplasias (either hypo- or hyperplastic). The vascular expression of neurofibromatosis is often overlooked. However, in the presence of an inexplicable occlusive or aneurysmal vasculopathy, it is advisable to search for signs of neurofibromatosis since ill-defined forms exist.

Adult↗
PubMed1976

Pregnancy and neurofibromatosis (von Recklinghausen's disease).

A case of neurofibromatosis adversely affected by pregnancy has been presented. The large neurofibromatosis lesions in this patient increased extensively during the latter part of pregnancy, mainly as the result of massive hemorrhage within the masses. Additionally, the patient developed partial paralysis of the lower extremities resulting in inability to walk. This was thought to be due either to the development of neurofibromatosis or to enlargement of a previously existing intraspinal small neurofibromatosis lesion. In view of exacerbation of von Recklinghausen's disease during pregnancy, as reported here and recorded by others, and its hereditary transmission (autosomal dominant gene), early termination of pregnancy and sterilization are recommended.

Adult↗
PubMed1996

Bone scans in neurofibromatosis: neurofibroma, plexiform neuroma and neurofibrosarcoma.

UNLABELLED: Neurofibromatosis type 1 or von Recklinghausen's disease is one of the most common autosomal dominant genetic disorders. Between 29% and 77% of patients may suffer from a wide range of skeletal abnormalities and, thus, patients with neurofibromatosis frequently undergo skeletal scintigraphy, at which time the common peripheral nerve soft-tissue tumors that occur in this syndrome (neurofibromas, plexiform neuromas and neurofibrosarcomas) may be demonstrated. METHODS: Single or multiphase 99mTc methylenediphosphonate (MDP) bone scans were performed in five patients with neurofibromatosis as part of their clinical evaluation. RESULTS: We imaged neurofibrosarcomas in three patients, cutaneous neurofibromas in one patient and a plexiform neuroma in one patient. CONCLUSION: Single- or multiphasic bone scans may localize common soft-tissue tumors in neurofibromatosis.

Adult↗
PubMed1998

[Recklinghausen neurofibromatosis. Report of a case].

Neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural cell tissues. These disorders produce other abnormalities such as skin changes and bone deformities. Neurofibromatoses occur in both sexes and in all races and ethnic groups. Scientists have classified these disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). Other types of neurofibromatoses may exist, but are not yet identified. Nearly 50% of the cases shows a well definited familiarity for the disease, according to an autosomal dominant transmission, while the other 50% of patients shows a negative history of familiarity, according to a new chromosomal mutation interesting the same autosomal genes of the dominant transmission. Oral localization is more rare showing an incidence ranging from 4 to 7% in most series of different authors. The most frequent involvement site in oral neurofibromatosis is the tongue, followed by the oral mucosa and floor of the mouth; palate and maxillary-mandibular bones are a rare localization of the disease. In the present, the clinical, radiological, histopathological and therapeutical aspects of a clinical case of neurofibromatosis, presenting as mandibular tumor, are examined. The clinical case reported, a 37 year old man, was essentially characterized by a positive family history for the disease, a neurofibroma of the oral mucosa.

Adult↗
PubMed1992

Prevention and control of neurofibromatosis: memorandum from a joint WHO/NNFF meeting.

Neurofibromatosis (NF) is a serious, common, genetically determined neurological disorder; with a prevalence of about 1:4000 births it affects both sexes and all races and ethnic groups. The two major forms are referred to as NF1 and NF2, as suggested in 1987 by a National Institutes of Health Consensus Development Conference on Neurofibromatosis. In NF1, the disease phenotype is more variable and complex than in NF2. Complications can occur in any of the body systems in tissues of ectodermal, mesodermal and neural tube origin; there is marked variation of disease phenotype even within families. The NF2 gene, in contrast, only seems to be expressed in tissues of ectodermal origin and its expression is more uniform both within and between families. The recent discovery and isolation of the gene responsible for the NF1 mutation has practical applications in the field of molecular genetics which could modify the approaches for diagnosis, treatment and prevention of NF. This Memorandum summarizes the discussions and recommendations of the participants at a joint WHO/National Neurofibromatosis Foundation (NNFF) meeting, held in Jacksonville, Florida, USA, on 27-28 January 1991.

Chromosome Mapping↗
PubMed2005

Syndrome of early onset colon cancers, hematologic malignancies & features of neurofibromatosis in HNPCC families with homozygous mismatch repair gene mutations.

Hereditary nonpolyposis colon cancer (HNPCC) is the most common hereditary colon cancer syndrome. It is characterized by multiple colon as well as extracolonic cancers such as endometrial, ovarian and urinary tract cancers. In addition, it is well known that some cases of HNPCC can present with unique tumor spectrums such as sebaceous tumors, which is often referred to as the 'Muir-Torre' syndrome. In recent years there have been a few reports of families presenting with early onset of colon tumors along with café-au-lait spots and/or hematologic malignancies often associated with homozygous mutations involving one of the mismatch repair genes. In this article we have performed a comprehensive review of the entire medical literature to identify all cases with similar presentations reported in the literature and have summarized the clinical features and genetic test results of the same. The available data clearly highlight such presentations as a distinct clinical entity characterized by early onset of gastrointestinal tumors, hematologic malignancies as well as features of neurofibromatosis (easily remembered by the acronym ;CoLoN'; Colon tumors or/and Leukemia/Lymphoma or/and Neurofibromatosis features). Furthermore, there has also been some evidence that the neurofibromatosis type-1 gene is a mutational target of the mismatch repair deficiency that is seen in families with HNPCC, and that mlh1 deficiency can accelerate the development of leukemia in neurofibromatosis (Nf1) heterozygous mice. Recognition of this syndrome has significant importance in terms of earlier detection of cancers, cancer screening recommendations as well as genetic counseling offered to such families.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Growth hormone replacement and the risk of malignancy in children with neurofibromatosis.

OBJECTIVE: To assess the efficacy and safety of growth hormone (GH) therapy in children with GH deficiency in association with neurofibromatosis. METHODS: Retrospective analysis of data from the Pharmacia and Upjohn International Growth Database (KIGS) in a total of 102 GH-deficient children with neurofibromatosis treated with recombinant GH. RESULTS: Median pretreatment height velocity was 4.2 cm/yr (1.7 to 6.4 cm/yr), increased to 7.1 cm/yr (4.6 to 10.0 cm/yr) in the first year of GH therapy, and remained significantly greater than pretreatment at 5.7 cm/yr (2.9 to 8.3 cm/yr) and 5.7 cm/yr (2.6 to 7.9 cm/yr) in the second and third years, respectively. The median height SD score increased from -2.4 to -1.8 by the end of 3 years of treatment. Five patients had either a recurrence of an intracranial tumor or a second intracranial tumor; this incidence of tumor occurrence is comparable to that reported previously in similar patients with neurofibromatosis. Other adverse events were relatively minor and unlikely to be attributable to GH therapy CONCLUSIONS: The data indicate that GH replacement therapy, per se, for patients with neurofibromatosis and GH deficiency is likely to be beneficial and unassociated with excessive malignant risk.

Adolescent↗