Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “NEUROFIBROMATOSIS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 469 records · Page 26Linked to original sources
PubMed1994

Neurofibromatosis associated with central alveolar hypoventilation syndrome during sleep.

We describe polygraphic respiratory alterations during sleep in a child with neurofibromatosis. The patient, a four-year-old boy, had a medical history of neurofibromatosis and recurrent acute respiratory failure responsive to mechanical ventilation. All-night polysomnography showed severe nocturnal hypoventilation with marked hypercapnia (TcPaCO2 70 mmHg) and hypoxemia (SaO2 less than 40%). Nocturnal hypoxemia and hypercapnia and depressed response to the hyperoxic hypercapnic test confirmed the diagnosis of central hypoventilation syndrome. Cerebral magnetic resonance imaging disclosed lucent areas in the globus pallidus, mesencephalus and left upper pons. Therapy with nocturnal nasal positive bilevel ventilation reversed nocturnal hypoxemia and hypercapnia. This study suggests that patients with neurofibromatosis should be investigated for concomitant severe hypoventilation, particularly when clinical symptoms suggest brain stem lesions.

Acute Disease↗
PubMed2001

Arrhythmias in neurofibromatosis. A case report and review of the literature.

Patients with neurofibromatosis have a higher incidence of anatomic cardiac abnormalities. However, there is little data regarding incidence of arrhythmias in this population. It is known that these patients have a higher mortality than the normal population, and it is possible that some deaths may be due to preventable causes such as cardiac arrhythmias. We report a patient with neurofibromatosis who was treated for a refractory seizure disorder for 8 years. However, video/EEG monitoring demonstrated that the patient had recurrent syncopal seizures secondary to sinus node dysfunction. Complete resolution of symptoms occurred after a permanent pacemaker implantation. We believe this is the first reported case of sinus node dysfunction associated with neurofibromatosis.

Adult↗
PubMedDate not supplied

Coexistence of autosomal dominant polycystic kidney disease and neurofibromatosis: report of a family.

Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis are both autosomal dominant heredofamilial disorders. Concurrence of these two diseases is very rare. Herein, we report the coexistence of neurofibromatosis in 3 members, a mother and her 2 sons, of a family with preexisting ADPKD. The chromosomal studies of these patients show no translocation, deletion, or other gross abnormality. It is possible that a mutated neurofibromatosis gene developed in the ADPKD mother with subsequent inherence of both ADPKD and NF genes in her 2 sons.

Cafe-au-Lait Spots↗
PubMed1991

Neurofibromatosis type 2: report of a family and review of current evaluation and treatment.

Significant advances during the past decade have greatly improved our understanding of neurofibromatosis type 2, a genetic disease which results in bilateral acoustic neuromas. The emergence of gadolinium-enhanced magnetic resonance imaging has allowed early detection of minute intracanalicular eighth-nerve tumors, less than 1 cm in diameter. Recombinant DNA studies have clarified the genetics that underlie neurofibromatosis type 2 and separate it from a variety of related conditions, such as von Recklinghausen's neurofibromatosis. Early diagnosis and surgical removal of these tumors may offer the only hope of preserving hearing and facial nerve function. A report of the evaluation and treatment of a family with multiple affected individuals will exemplify these conclusions.

Adolescent↗
PubMed1993

[Multiple meningiomas and neurofibromatosis. Report of 3 cases].

Multiple intracranial meningiomas (MIM) may be a specific pathological entity. In general these lesions are associated with neurofibromatosis. The classical clinical picture of neurofibromatosis, as described by von Recklinghausen, may not necessarily be associated with MIM. This possibility is a direct result of the variable penetrability of chromosomic aberrations connected with the chromosome 22. Molecular studies of these tumors confirmed this finding. In our series of 108 patients with intracranial meningiomas only three cases were multiple. In only one of them external stigmata of von Recklinghausen's disease were detected. In the absence of skin manifestations of neurofibromatosis in patients with MIM it is very difficult to diagnosis von Recklinghausen's disease, and the so called "true multiple meningiomas". The authors believe that there are no justificative findings to consider MIM as an independent pathological entity.

Aged↗
PubMed2006

Neurofibromatosis-associated nerve sheath tumors. Case report and review of the literature.

In this paper the authors describe a patient with neurofibromatosis Type 1 (NF1) who presented with sequelae of this disease. They also review the current literature on NF1 and NF2 published between 2001 and 2005. The method used to obtain information for the case report consisted of a family member interview and a review of the patient's chart. For the literature review the authors used the search engine Ovid Medline to identify papers published on the topic between 2001 and 2005. Neurofibromatosis Type 1 appears in approximately one in 2500 to 4000 births, is caused by a defect on 17q11.2, and results in neurofibromin inactivation. The authors reviewed the current literature with regard to the following aspects of this disease: 1) diagnostic criteria for NF1; 2) criteria for other NF1-associated manifestations; 3) malignant peripheral nerve sheath tumors (PNSTs); 4) the examination protocol for a patient with an NF1-related NST; 5) imaging findings in patients with NF1; 6) other diagnostic studies; 7) surgical and adjuvant treatment for NSTs and malignant PNSTs; and 8) hormone receptors in NF1-related tumors. Pertinent illustrations are included. Neurofibromatosis Type 2 occurs much less frequently than NF1, that is, in one in 33,000 births. Mutations in NF2 occur on 22q12 and result in inactivation of the tumor suppressor merlin. The following data on this disease are presented: 1) diagnostic criteria for NF2; 2) criteria for other NF2 manifestations; 3) malignant PNSTs in patients with NF2; 4) examination protocol for the patient with NF2 who has an NST; and 5) imaging findings in patients with NF2. Relevant illustrations are included. It is important that neurosurgeons be aware of the sequelae of NF1 and NF2, because they may be called on to treat these conditions.

Family Health↗
PubMedDate not supplied

Intestinal pseudo-obstruction due to neurofibromatosis responding to cisapride.

Gastrointestinal involvement in neurofibromatosis presenting with mechanical obstruction, hemorrhage or intussusception is known. Small bowel dysmotility and intestinal pseudo-obstruction due to neurofibromatosis is rare. A 23-year-old man with classical neurofibromatosis presented with intermittent episodes of intestinal pseudo-obstruction, small bowel bacterial overgrowth and steatorrhea. The patient had good symptomatic improvement with cisapride.

Adult↗
PubMed1999

T1 Breast Cancer Associated with Von Recklinghausen's Neurofibromatosis.

A rare case of breast cancer associated with von Recklinghausen s neurofibromatosis is reported. This case and review of the literature illustrate the problems of clinical diagnosis. A 66-year-old woman who had undergone sigmoidectomy for sigmoid colon cancer two years previously, was admitted to the hospital because of a left breast skinretraction in October, 1998. The patient had von Recklinghausen fs disease (neurofibromatosis type 1). The TNM clinical staging was T1cN0M0. Modified radical mastectomy was performed. The histopathological diagnosis of the breast tumor was invasive ductal carcinoma and the skin tumor was neurofibroma. The pTNM pathological staging was pT1cN1aM0. Among patients similar to our case, almost all were staged higher than T2. This may be because multiple neurofibromas obscure breast mass at palpation, leading to delayed detection of the cancer. Systemic and careful exploration is essential for patients with von Recklinghausen's neurofibromatosis to detect breast cancer at an early stage.

Journal Article↗
PubMed2000

Atlanto axial instability due to neurofibromatosis: case report.

Neurofibromatosis is an autosomal dominant genetic disease, characterized by café au lait spots, neurofibromas and several bony anomalies. Deformities of the spine are the most frequent alterations. Involvement of the cervical spine has been studied less frequently. The case of a 16-year-old male patient affected by neurofibromatosis, with cervical pain without neurological symptoms is presented. X-rays, CT-scan and MRI demonstrated the presence of cervical kyphosis, occipitoaxial instability and atlantoaxial instability with subluxation. Posterior occipito-C2 fusion was performed with prior placement of a halo-vest. The outcome at four years was good with solid occipito axial fusion, moderate loss of cervical spine flexion and moderate-to-severe limitation of cervical spine rotation. The incidence and variety of alterations of the cervical spine in patients affected with neurofibromatosis is discussed, as well as the results obtained by the treatment.

Adolescent↗
PubMed1992

The lethal prune/Killer-of-prune interaction of Drosophila causes a syndrome resembling human neurofibromatosis (NF1).

The eye color mutant prune (pn) of Drosophila melanogaster shows a lethal interaction with the Killer-of-prune (K-pn) allele of the abnormal wing disc (awd) locus. The awd gene is the Drosophila homologue of the mammalian tumor metastasis gene nm23, and it has been postulated that pn encodes a protein with similarity to a GAP, a GTPase-activating protein. Such GAPs potentially control Ras-like proteins, which are important molecular switches. However, there is only a low sequence homology with the genes for human GAP and neurofibromatosis (NF1), and with yeast IRA1 and IRA2, and there is no evidence for the functional significance of this homologization. I now show that pn mutations lower the concentrations of larval pteridines, and that this phenomenon is enhanced by two orders of magnitude by the lethal interaction between pn and awdK-pn. These gradual effects on the pteridin concentrations indicate a corresponding drop of the pools of free GTP, and favor the involvement of GTP-binding proteins. In addition, cytology reveals a considerable hypertrophy of the neuroglia and the perineurium of the larval brain. Furthermore, the lymph glands of the larvae are highly abnormal and form melanotic (pseudo)tumors upon ageing of the larvae. These pseudotumors consist predominantly of lamellocytes which are part of the cellular defence system of Drosophila. These observations most likely indicate hyperactivity of a Ras-like protein which becomes manifest in cell types equivalent to the cell types affected by human neurofibromatosis (NF1). Thus, it is very suggestive to regard the synthetic lethal system prune/Killer-of-prune as the Drosophila model for human neurofibromatosis.

Amino Acids↗
PubMed2004

Inflammatory fibroid polyp of the caecum in a patient with neurofibromatosis.

INTRODUCTION: Inflammatory fibroid polyp of the large intestine is uncommon. To our knowledge, this condition has not been reported in a patient with neurofibromatosis. CLINICAL PICTURE: In this report, a 66-year-old woman with neurofibromatosis was found to have a large polyp in the caecum. TREATMENT: Right hemicolectomy was performed because of the size of the polyp. OUTCOME: Pathological examination showed that the polyp was an inflammatory fibroid polyp. CONCLUSION: Clinicians should be aware that inflammatory fibroid polyps could be one of the many manifestations of neurofibromatosis in the gastrointestinal tract.

Aged↗
PubMed1994

[A case of neurofibromatosis with occlusion of multiple cerebral artery, moyamoya phenomenon and scoliosis].

Cases of cerebrovascular occlusive lesion with neurofibromatosis have rarely been reported. We report here, the case of a 57-year-old woman who twice had sudden onset of brain hemorrhage. She had a family history of neurofibromatosis. Her elder daughter and her niece had a diagnosis of neurofibromatosis and examination showed café au lait spots and neurofibroma over the body, accompanied with scoliosis. CT scans revealed subependymal hemorrhage at the first onset of cerebral bleeding and secondly showed a high-density mass at the left basal ganglia. SPECT(99mTC-HMPAO) showed decreased activity in the left frontal and temporal lobe. Angiogram revealed multiple occlusive lesions of the cerebral arteries, including occlusions of the bilateral anterior cerebral artery and the right middle cerebral artery at the proximal portion and stenosis of the left posterior artery at the proximal portion. Abnormal vascular networks (so called Moyamoya phenomenon) at the base of the brain were also seen bilaterally. Seizinger and others have found a genetic locus of this disease in the use of genetic engineering, and Riccardi showed that mast cell is related to the tumorous growth of neurofibroma and suggested a possibility of medical treatment for growing neurofibroma by stabilizing mast cell function with ketotifen. We anticipate the treatment for this disease will be established in recent years.

Cerebral Angiography↗
PubMed1994

Hypertension in children with neurofibromatosis.

Hypertension in neurofibromatosis is mostly a consequence of a stenosis of the renal artery or is due to phaeochromocytoma. Riccardi pointed out primary hypertension in patients with several cervical neurofibromas in the absence of phaeochromocytoma and he noticed that the elevation of BP was often already present in children. Nine (15.8%) of 57 neurofibromatosis patients (age from 1.5 to 23 years) examined, presented BP levels above the 95th percentile on several occasions and three in particular had severe hypertension with compromised target organs. Two of them had a stenosis of the renal artery, in the third an organic origin of hypertension was not demonstrated, but there was an asymptomatic glioma of the hypothalamus. The other six children had a labile or borderline hypertension and two of them had, respectively, a glioma of the thalamus and of the optical chiasm. Elevation of the catecholamine metabolites or other causes of hypertension were not found in any of these patients. These preliminary data show a high incidence of hypertension in neurofibromatosis, primary or due to organic causes and overall they point out a possible correlation between hypertension and cerebral neoplasia.

Adolescent↗
PubMed1994

Neurofibromatosis, acute myelomonocytic leukemia, and disseminated tuberculosis: an adult case report.

Leukemia associated with neurofibromatosis has been reported to be predominantly nonlymphocytic and limited to childhood; it is rare in adulthood. An adult case is reported; the patient had nonfamilial peripheral neurofibromatosis (NF) (von Recklinghausen's disease), contracted acute myelomonocytic leukemia and disseminated tuberculosis (TB). After a four-month periods of anti-TB medication that disease was much improved, but the leukemic picture was still progressing. Chemotherapy was not given. This case further illustrated an association between acute nonlymphocytic leukemia (ANLL) and neurofibromatosis type 1 (NF-1) in adulthood. An attempt was made also to explain the relationship between disseminated tuberculosis and, in this instance, hematological abnormalities.

Humans↗
PubMed1996

[Localized bilateral and symmetrical neurofibromatosis].

INTRODUCTION: We report the first case of bilateral neurofibromatosis localized distally on the lower limbs. CASE REPORT: A 36-year-old woman presented about 20 nodular lesions of the plantar and both lateral aspects of both feet which developed progressively after age 30. Histology examination evidenced neurofibromas. Clinical features and laboratory results enabled us to eliminate von Recklinghausen disease in this mother of 3 children. DISCUSSION: This observation allowed us to situate symmetrical and bilateral neurofibromatosis in the Riccardi classification for genetic counselling. We conclude that the case was a type V neurofibromatosis in a sporadic bilateral form, rarely reported in the literature.

Adult↗
PubMed1996

[Therapy of renovascular hypertension in neurofibromatosis: surgical revascularization versus percutaneous transluminal angioplasty].

Vasculopathy is a rare and undervalued complication in neurofibromatosis. Histopathological changes of the vascular wall may lead to relevant renal artery stenosis. We report a case of a 17-year-old patient with neurofibromatosis and severe renovascular hypertension resulting from a proximal renal artery stenosis. Attempted percutaneous renal angioplasty was unsuccessful and the patient was referred for operative revascularization. After insertion of an aortorenal bypass with a reversed saphenous vein graft the patient became normotensive without medication. Based on our own experience and a review of the literature we recommend operative reconstruction of stenotic renal arteries in neurofibromatosis.

Adolescent↗
PubMed1998

[Cutaneous-splanchnic neurofibromatosis].

BACKGROUND: Segmental neurofibromatosis (NF V) is ten times less frequent than Recklinghausen disease. Would the risk of visceral involvement in this uncommon form of neurofibromatosis warrant systematic imaging procedures? CASE REPORT: A 31-year-old man consulted for a voluminous plexiform neurofibroma in the left lumbar area. More ventrally, on the left side, there was also a café au lait spot. There were no Lisch nodules. The chest and abdominopelvic computed tomography and magnetic resonance imaging showed intramuscular tumoral extension, two neurofibromas in the 9th intercostal space and a voluminous 5-cm tumor situated in the left adrenal area. After resection pathology examination of the surgical specimen confirmed the diagnosis of ganglioneuroma. DISCUSSION: In this patient, all the neurofibromas and the café of lait spot developed in the territories of the left T10 and adjacent spinal roots. This was also true for the ganglioneuroma which developed on the deep sympathetic ramus to the adrenal gland which originates essentially from roots T8 to T11. This would place this case in the second subgroup of NF V in Roth's classification. Only six other cases have been reported in the literature. Such deep localizations are very likely to be underestimated, raising the problem of their detection and the correct protocol to follow asymptomatic forms, especially to detect disease progression to malignant degeneration which has a poor prognosis. Patients with a NF V should receive genetic counselling with a search for a family history, other signs of neurofibromatosis and Lisch nodules. In young patients, the risk of deep asymptomatic spread underlines the importance of regional computed tomographic or magnetic resonance explorations.

Adult↗
PubMed1993

Mutations in von Recklinghausen neurofibromatosis: an hypothesis.

Von Recklinghausen neurofibromatosis or neurofibromatosis type I (NF1) is a relatively frequent (1/3,000 livebirths) autosomal dominant condition. Some unusual aspects are noted in this disorder: new mutations are frequent and almost all are of paternal origin without parental age effect. The recurrence of NF1 among children of healthy parents is rare as opposed to other dominant disorders. I propose that in NF1 (1) new mutations occur often in somatic cells or in late germinal cells, however, they occur very rarely in early germinal cells leading to germinal mosaicism and (2) the individual with somatic mosaicism presents symptoms of the disease. Therefore, an NF1 patient with an apparent new mutation is often a somatic mosaic for the mutation and if the mosaic is also present in germinal cells some of his children will be affected. This hypothesis may explain the unusual aspects of mutation in NF1.

Female↗