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PubMedDate not supplied

[The role of MRI in the diagnosis and evaluation of extension of the disease and condition of patients with neurofibromatosis].

Neurofibromatosis 1 (NF 1) and Neurofibromatosis 2 (NF 2) have been recently recognized to be distinct disorders through genetic linkages. MR imaging can be used to identify abnormalities of the head and spine in patients with these disorders. This review highlights some important but lesser known aspects of the two more common phakomatoses. The role of newer imaging technique such as contrast-enhanced MR imaging in the evaluation of these disorders also are discussed.

Humans↗
PubMed1999

[A case of neurofibromatosis with intrathoracic meningocele presenting respiratory failure caused by pleural effusion].

We reported a 58-year-old man with neurofibromatosis and an intrathoracic meningocele. He was admitted to our hospital because of left-sided chest pain and dyspnea on exertion. He presented with severe kyphoscoliosis and showed a round, well circumscribed mass lesion in the paravertebral region of the left upper lung on a chest roentgenogram. Just before admission, pleural effusion accumulated in the left thoracic cavity, which had caused the respiratory symptoms. The mass was diagnosed as an intrathoracic meningocele by MRI and iotrolan CT myelography. The pleural effusion was transudate fluid and no leakage from the meningocele to pleural cavity was demonstrated. Posterolateral extradural approach with laminectomy was done and dural plasty to close the connection between the meningocele and the subarachnoidal space was carried out. After the operation, both the intrathoracic meningocele and the pleural effusion disappeared with remarkable improvement in the respiratory function. Intrathoracic meningocele is known to be seen in association with neurofibromatosis and scoliosis, but it is very rare to see an intrathoracic meningocele which causes respiratory failure due to massive pleural effusion like this report.

Humans↗
PubMed2000

Thalamic involvement in neurofibromatosis type 1: evaluation with proton magnetic resonance spectroscopic imaging.

Neurofibromatosis type 1 is a common autosomal dominant disorder associated with learning disabilities. In addition to gliomas and other tumors, T2 hyperintense lesions (unidentified bright objects or UBOs) are frequently found in the globus pallidus, cerebellum, and white matter regions. To better characterize supratentorial UBO functional significance, we studied by quantitative magnetic resonance spectroscopic imaging (MRSI) 9 male subjects with neurofibromatosis type 1 (age, 6-19 years) and 9 age-matched and sex-matched controls. Maps of the anatomical distribution of the metabolites choline (Cho), N-acetylaspartate (NAA), and creatine were calculated in four axial 15-mm slices. Absolute metabolite concentrations within UBOs, unaffected globus pallidus, and thalami demonstrated an age-related pattern, characterized by elevated Cho and relatively preserved NAA in younger subjects (<10 years) and reduced NAA and normal Cho in older subjects. These changes were found in both UBOs and thalami but were only significant for NAA, NAA/creatine, and NAA/Cho in the latter region. Decreases in NAA ratios were most severe in the thalami of subjects with UBOs in the globus pallidus, whereas UBOs showed similar but milder abnormalities than those in the thalamus. We speculate that the MRSI metabolic abnormality may represent a more generalized phenomenon, without a T2 signal counterpart in the affected brain regions. Based on the neuropathological study by DiPaolo and colleagues (1995), we postulate that Cho elevations reflect increased myelin turnover in areas of intramyelinic edema, which is followed by neuropil injury (reduced NAA). Temporal progression and behavioral correlates of these MRSI changes deserve further exploration.

Adolescent↗
PubMedDate not supplied

Psoriasis in a patient with neurofibromatosis.

A seven-year-old boy with neurofibromatosis who developed scalp psoriasis is presented. The clinical evaluation of the patient revealed multiple café au lait spots, axillary freckling, bilateral Lisch nodules and a psoriatic plaque on his scalp. Though there is no known direct relationship between neurofibromatosis and psoriasis, one is suggested in this patient, possibly related to a common genetic defect.

Child↗
PubMedDate not supplied

Neurofibromatosis-Noonan syndrome or LEOPARD Syndrome? A clinical dilemma.

Neurofibromatosis (NF), Noonan syndrome (NS), and LEOPARD syndrome are all autosomal dominant conditions, each being a distinct clinical entity by itself. Rarely, one encounters cases with features of NF and NS and is termed as the 'Neurofibromatosis-Noonan syndrome' (NF-NS). The authors report a clinical dilemma with major clinical features of the NF-NS syndrome and LEOPARD syndrome co-existing in the same patient. Also, features of Noonan syndrome and LEOPARD syndrome are compared with the case reported.

Humans↗
PubMed2000

[Neurofibromatosis of the lower cervical spine: an operative case report].

PURPOSE OF THE STUDY: We report a case of type 1 neurofibromatosis (von Recklinghausen's disease) of the lower cervical spine in a 13-year-old girl. CASE REPORT: There was no neurological deficit. Plain films showed dysplastic 82 degrees kyphosis centered on the C4-C5 disc. Surgical treatment consisted in anterior multilevel interbody grafting and plate osteosynthesis combined with posterior arthrodesis. Good bone fusion was obtained with acceptable cervical mobility. The residual cervical kyphosis was 18 degrees. DISCUSSION: An evaluation of the cervical spine should be proposed for patients with neurofibromatosis even if there is no thoracic scoliosis. Severe cervical deformities can lead to serious neurological complications. Circumferential arthrodesis appears to provide optimum results.

Adolescent↗
PubMed2000

[Multiple intracranial and intraspinal meningiomas in the neurocristopathy (phacomatosis) type of neurofibromatosis].

Presentation of a case of a "central type" neurofibromatosis in a 56-year old woman, clinically diagnosed erroneously as multiple sclerosis with a 20 years long course. Disturbances of hearing, walking, sight, sensitivity, incontinentia, intracranial hypertension and headache represented the main symptoms. More than 120 intracranial and tens of intraspinal meningiomas represented the leading postmortem finding. In a lesser frequency spinal plexiform neurofibromas and schwannomas were also found. The death was attributed to aspiration purulent bronchopneumonia. Various types of meningioma were seen microscopically, including secretory type and a type with amyloid. Immunostaining was positive with S-100 protein and EMA. Negative expression was found with vimentin, CEA, smooth muscle actin, estrogen and progesterone receptors, amyloid A and cytokeratins. With regard to the presence or absence of key morphological features the presented case was placed according to Sobol et al. (29) into the seventh category of neurofibromatosis (NF7).

Brain↗
PubMed2001

Management of craniofacial neurofibromatosis.

The problem with neurofibromatosis is that it has always been classified from a pathological point of view. This really does not help when it comes to clinical management. This article presents a classification that relates to the severity of the condition and to its clinical management. In the head and neck area, the important region from the point of view of treatment, is the orbit and its contents. It is possible to classify the neurofibromatosis of the facial area in three grades, and these signify the severity of orbital involvement. This directly relates to the surgical management of these patients. Once this system is adopted, surgical decision-making is relatively easy, although the execution of the management is complex.

Craniofacial Abnormalities↗
PubMed2002

[Associated meningioma and neurofibroma at the same cervical level without clinical signs of neurofibromatosis: case report].

A 59-year-old woman presented with a history of progressive clumsiness and numbness in both hands. MRI suggested a solid mass extending, from the intradural extramedullary, extradurally at the left C1/2 level. However, intraoperative findings revealed the both the intradural tumor and the extradural tumor existed separately. Histopathological findings revealed coincident meningioma (intradural) and neurofibroma (extradural). These lesions were not associated with neurofibromatosis, and the patient did not have other tumors in either the brain or at other levels of the spine. The occurrence of different types of spinal tumors without clinical signs of neurofibromatosis is very rare. Only five cases have been reported in the literature. To our knowledge, this is the first case of occurrence of different types of spinal tumors at the same level.

Cervical Vertebrae↗
PubMed2001

Malignant fibrous histocytoma of bone in neurofibromatosis--a case report.

Multiorgan neoplasms are encountered frequently in patients with neurofibromatosis, which is a genetic disorder. Though skeletal abnormalities are common in these patients, the occurrence of primary bone sarcomas is very rare. We hereby report a case of post-radiation malignant fibrous-histiocytoma of bone developing in an elderly patient with neurofibromatosis.

Bone Neoplasms↗
PubMed1992

[Neurofibromatosis as a cause of arterial hypertension in children].

Hypertension can complicate the course of neurofibromatosis. When it appears in adulthood (after 18 years of age) it is usually due to pheochromocytoma, but in children the cause is a stenotic lesion of the renal arteries or the suprarenal aorta. Its treatment follows the general principles used in the treatment of the more common forms of renovascular hypertension. We report four patients that developed renovascular hypertension after being diagnosed of neurofibromatosis, they had different localizations of the stenotic lesion, and the diverse types of surgical treatment are analyzed.

Adolescent↗
PubMed2003

Segmental neurofibromatosis.

Segmental neurofibromatosis is a rare variant of neurofibromatosis in which skin lesions are confined to a circumscribed body segment. A case of a 72-year-old woman with this condition is presented. Clinical features and genetic evidence are reviewed.

Aged↗
PubMedDate not supplied

The physical and psychological implications of neurofibromatosis.

Neurofibromatosis is a common genetic condition that causes nerves to develop non-malignant swellings (neurofibromas). These can occur on any area of the body, and can result in a wide range of symptoms involving the neurological, cognitive, orthopaedic, renal and endocrine systems. The severity of the condition is highly variable, and an individual approach is necessary to address the specific symptoms experienced by each patient. Nurses can address many aspects of neurofibromatosis including screening, medical complications, learning difficulties, and the impact of disfigurement. With knowledge of the broader implications of a diagnosis nurses can significantly improve patients' experience of the health service and strengthen their coping skills.

Adaptation, Psychological↗
PubMed2005

Neurofibromatosis with malignant transformation presenting as an emergency in a nigerian child: a case report.

Neurofibromatosis is a rare disease, and malignant transformation of this otherwise benign tumor is extremely rare in childhood. In this case report, attention is drawn to childhood neurofibromatosis presenting as a life-threatening triad of malignant transformation, visceral metastasis and upper airway obstruction leading to death in a 9-year-old female Nigerian child. This case report is purposed to draw attention to this condition, mostly reported in adults and to review literature on the disease.

Cell Transformation, Neoplastic↗
PubMed2005

Leprosy with neurofibromatosis--a diagnostic dilemma.

The coexistence of leprosy with neurofibromatosis is a rare finding and can pose a diagnostic dilemma. Neurofibromatosis coexisting with borderline tuberculoid leprosy has previously not been reported. We report such a case in a 13-year-old boy where biopsy of clinically uninvolved nerve revealed the presence of acid-fast bacilli. A careful diagnostic workup is needed in such cases to ensure proper treatment. Both disorders affect Schwann cells and their relationship merits further consideration.

Adolescent↗
PubMed2005

Segmental neurofibromatosis.

A 74-year-old man presented with skin-colored nodules in his left antecubital fossa. The lesions had been present for 35 years and were asymptomatic. Nodules elsewhere on the body, cafe-au-lait spots, axillary freckling, and Lisch nodules were absent. No family members had similar nodules. A diagnosis of segmental neurofibromatosis was made, and a biopsy specimen of a nodule showed a neurofibroma. As the patient had no complications of neurofibromatosis 1, no treatment was needed.

Aged↗
PubMed1991

Intrathoracic meningocele in association with neurofibromatosis: report of a case.

A case of intrathoracic meningocele associated with neurofibromatosis is reported. Computed tomography (CT) demonstrated that the paravertebral mass had a characteristic low attenuation coefficient compatible with liquid content. CT-myelography further confirmed the diagnosis. We recommend that though intrathoracic meningocele is rare, it should be kept in mind when making a differential diagnosis in cases where the patient has neurofibromatosis with a posterior mediastinal mass.

Adult↗
PubMed1971

Hereditary bilateral acoustic neuroma (central neurofibromatosis).

Fifty-five members of a kindred have bilateral acoustic neuroma. The trait is autosomal dominant with high penetrance. Onset is about age 20; survival varies from two to 42 years. In screening members, vestibular abnormalities are most consistently observed, but complete audiometric studies and brain scan are important, because no single study is diagnostically sufficient in all cases. Peripheral signs suggesting neurofibromatosis are rare, but other CNS tumors, often asymptomatic, are common suggesting this trait may represent a "central" form of neurofibromatosis.

Adolescent↗