Involvement In Neurofibromatosis Type Research Articles

Solitary colonic neurofibroma in an African child

Neurofibromas are a group of heterogeneous neurocutaneous disorders. They are benign neoplasms consisting of neural and connective tissue components affecting any organ system. Gastrointestinal involvement in neurofibromatosis type 1 (NF1) are rare and are late manifestations of the disease, but in

Nerve ultrasound shows subclinical peripheral nerve involvement in neurofibromatosis type 2.

Neurofibromatosis type 2 (NF2) is mainly associated with central nervous system (CNS) tumors. Peripheral nerve involvement is described in symptomatic patients, but evidence of subclinical peripheral nerve involvement is scarce. We conducted a cross-sectional pilot study in 2 asymptomatic and 3 minimally symptomatic patients with NF2 to detect subclinical peripheral nerve involvement. Patients underwent clinical examination, nerve conduction studies (NCS), and high-resolution ultrasonography (HRUS). A total of 30 schwannomas were found, divided over 20 nerve segments (33.9% of all investigated nerve segments). All patients had at least 1 schwannoma. Schwannomas were identified with HRUS in 37% of clinically unaffected nerve segments and 50% of nerve segments with normal NCS findings. HRUS shows frequent subclinical peripheral nerve involvement in NF2. Clinicians should consider peripheral nerve involvement as a cause of weakness and sensory loss in the extremities in patients with this disease. Muscle Nerve 57: 312-316, 2018.

Spontaneous Massive Hemothorax in a Patient with Neurofibromatosis Type 1 with Successful Transarterial Embolization

Vascular involvement in neurofibromatosis type 1 is rare but has the potential to be fatal. We report a case of a patient with spontaneous rupture of a left intercostal artery aneurysm, which presented as a massive left hemothorax and was successfully treated by transarterial coil embolization.

Intra-abdominal plexiform neurofibromatosis including periportal, mesentery, and gastrointestinal tract involvement in neurofibromatosis type 1: case report and review of the literature.

We report a case of intra-abdominal plexiform neurofibromatosis, including periportal, mesenteric, and gastrointestinal tract involvement, in a patient with von Recklinghausen's disease/neurofibromatosis type 1 (NF-1). A 26-year-old man with familial NF-1 was admitted to hospital for further examination of an abnormal hepatic mass along the portal vein. Esophagogastroduodenoscopy revealed antral wall thickening and swelling of the papilla of Vater. Mucosal biopsies taken from the duodenum revealed possible ganglioneuromatosis. Abdominal ultrasonography, contrast-enhanced computed tomography, and magnetic resonance imaging revealed an abnormal periportal mass with serpiginous extension into the liver along the portal vein and the mesentery, which is the typical spread pattern of plexiform neurofibromatosis. A laparotomy and cholecystectomy for gallstones were performed, and this patient was diagnosed as having intra-abdominal plexiform neurofibromatosis. This is the 15th case of intrahepatic periportal plexiform neurofibromatosis and the 16th case of diffuse ganglioneuromatosis associated with NF-1 in the English literature. The imaging findings of the lesion have been followed for 10years; there has been slight growth of the mass, but no malignant transformation has been found. The previously reported cases are reviewed.

L’atteinte des artères périphériques au cours de la neurofibromatose de Von Recklinghausen. Étude de deux cas

Arterial lesions are relatively rare in neurofibromatosis typeI but can have potentially serious consequences for the patient. We report two clinical cases of peripheral arterial involvement in neurofibromatosis type1. The first case was a 25-year-old female with Von Recklinghausen disease who developed a swollen tender mass around her left arm. The arterial CT scan revealed a false aneurysm of the brachial artery. The surgical procedure involved repair of the false aneurysm, and ligation of the brachial artery. Intra- and postoperative bleeding was severe, leading to hemodynamic instability and impaired hemostasis. The patient died on day 2, postoperatively. The second case involved a 17-year-old male with Von Recklinghausen disease who presented stageII arteritis of the right lower limb. Arteriography revealed a long stenosis of the right superficial femoral artery extending to the popliteal artery and an important collateral circulation in the leg arteries. Medical treatment with regular clinical supervision was recommended in this patient.

Cranial and Spinal involvement in Neurofibromatosis type 2

Neurofibromatosis type 2(NF-2) is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. NF2 is a distinct disease which must be separated clinically & radiologically from neurofibromatosis1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually bilaterally. Meningiomas and other benign central nervous system tumours such as ependymomas are other common features. Much of the morbidity from these tumours results from their treatment. As a classical tumour suppressor, inactivation of the NF2 gene product, merlin/schwannomin, leads to the development of both NF2 associated and sporadic tumours. Merlin/schwannomin associates with proteins at the cell cytoskeleton near the plasma membrane and it inhibits cell proliferation, adhesion, and migration.

Neurofibromatosis type 1 with external genitalia involvement: Presentation of 4 patients

Genitourinary neurofibromas with clitoral involvement in neurofibromatosis type 1 are rare, and even more infrequent are the neurofibromas involving genitalia in males. The most frequent presenting sign of neurofibroma in females is clitoromegaly with pseudopenis, and enlarged penis is the most common sign in males. Labium majus neurofibroma not associated with clitoral involvement is extremely rare. Magnetic resonance imaging demonstration of the neurofibromas has seldom been reported. We report 4 children, 3 girls and 1 boy, with plexiform neurofibromas involving the external genitalia. Three of the 4 patients had histologic confirmation of neurofibroma. Two girls with clitoral hypertrophy had a neurofibroma that infiltrated the clitoris and extended unilaterally to the lower bladder wall. One girl had a plexiform neurofibroma that affected a labium. One boy with asymmetric penile hypertrophy since 2 years of age and ipsilateral gluteal hypertrophy had plexiform neurofibromas that extended between the left lumbogluteal and penile regions, infiltrating the left rectum wall and bladder with compression of both structures, the left prostate, and the left half of the cavernous corpi with hypertrophy of this part and asymmetry of the penis. Magnetic resonance imaging demonstrated in all patients that external genitalia and plexiform neurofibroma formed images of nondetachable structures. However, hermaphroditism was discarded by chromosomal study in all 3 girls before ratifying the diagnosis of external genitalia neurofibroma.

Extracranial vertebral artery involvement in neurofibromatosis type I. Report of four cases and literature review.

Neurofibromatosis type 1 (NF-1) is one of the most common inherited diseases and as an autosomal dominant genetic disorder results from NF-1 gene mutation with 100% penetration and wide phenotypic variability. The disease can involve a wide variety of tissues derived from all three embryonic layers. NF-1 vasculopathy has been described primarily in peripheral arteries, but arteries supplying the CNS may also be involved. Of those, extracranial vertebral involvement is the commonest and most important. A series of four patients with NF-1 and vascular disease of the vertebral artery is described with a review of the pathophysiology, vascular phenotypes, their management and the pertinent literature.

Intraarticular Neurofibroma of the Hip

Musculoskeletal involvement in neurofibromatosis type 1 is present in 33% to 50%, including tumors of neural origin, typically neurofibroma. While both osseous and soft tissue lesions are well recognized, articular involvement is rare. The aim of this case report is describe and discuss the intraarticular extension of a neurofibroma into the hip joint.

Rupture of the thyrocervical trunk branch from the subclavian artery in a patient with neurofibromatosis: a case report

Background Vascular involvement in neurofibromatosis type 1 (NF1) is well recognized; however, rupture of extracranial arteries rarely occurs. We present a case of NF1 with rupture of the thyrocervical trunk, which branched from the right subclavian artery. A 76-year-old woman who has numerous café-au-lait spots and soft tumors of the skin manifested a sudden swelling of her neck accompanied with increasing pain. Radiological examinations revealed bleeding from the artery. Methods Histological and immunohistochemical examinations were carried out using tissues that contained the affected vessel. Results Proliferation of spindle cells positive for S-100 protein was seen in the adventitia of the ruptured vessel. Intimal thickening by proliferation of fibromuscular cells was also evident with irregularity of the media. Conclusions These findings suggest that the artery was disrupted by NF in the vascular wall. It is considered that NF in the arterial wall causes dysplasia of the smooth muscle layer in the intima and media and leads to fragility of the vessel. Twelve cases, including the present case, with rupture of extracranial arteries in NF1 have been reported in the past 10 years; two thirds of these occurred in extravisceral sites in which there is a good deal of physical movement. This suggests that a physiological factor is one of the triggers for arterial rupture, which occurs under a background of vascular fragility in NF1.

Solitary colonic neurofibroma in a patient with transient segmental colitis: Case report

Neurofibromas of the large bowel are very rare and usually are part of the colonic involvement in neurofibromatosis type 1 (Nf1, von Recklinghausen's disease). Solitary neurofibromas of the colon are extremely rare. We describe a case of an isolated neurofibroma that was found in the large bowel of a patient who suffered from segmental colitis and presented with bloody diarrhea. A review of the literature is also included, concerning the disclosure of isolated neurofibromas in the gut and other body parts and the type of gastrointestinal involvement in von Recklinghausen's disease.

MR imaging of abdominopelvic involvement in neurofibromatosis type 1: a review of 43 patients

Plexiform neurofibromas are a frequent complication of neurofibromatosis type 1. This article discusses MR imaging findings and distribution of plexiform neurofibromas in the abdomen and pelvis. To define the most prevalent patterns of involvement and MR imaging findings in abdominopelvic neurofibromatosis type 1. We reviewed the MR appearance of abdominopelvic lesions in 23 male and 20 female patients (median age: 16 years) with type 1 neurofibromatosis. The patients were part of a multi-institutional study of 300 patients. Imaging included coronal or sagittal, and axial short tau inversion recovery images. The most common abdominopelvic involvement was in the abdominopelvic wall (n=28, 65%) and lumbosacral plexus (n=27, 63%). Retroperitoneal involvement was frequent (n=15, 35%). Lesions were less often intraperitoneal (21%) (P=0.001). Pelvic disease (n=27, 63%), neural canal involvement (n=18, 42%), and hydronephrosis (n=4, 9%) were also noted. Target-like appearance of plexiform lesions was noted in more than half the patients. Abdominopelvic involvement in neurofibromatosis type 1 is primarily extraperitoneal. Although lesions are most prevalent in the abdominopelvic wall and lumbosacral plexus, retroperitoneal and pelvic involvement is common and usually affects important organs. MR imaging added information in the initial and follow-up clinical evaluation of these patients.

Plexiform neurofibroma of the larynx in a child

A case of a female child of six years of age with a plexiform neurofibroma of the larynx caused by von Recklinghausen's disease is presented. Laryngeal involvement in neurofibromatosis type 1 (NF1) is rare and only 19 paediatric cases have been reported. The tumour was biopsied and lateral pharyngotomy with supraglottic hemilaryngectomy was performed in order to relieve obstructive symptoms. Problems related to this unusual tumour localization are discussed and a review of the literature is presented.

Spontaneous aortic dissection and rupture in a patient with neurofibromatosis

Vascular involvement in neurofibromatosis type I is a well-recognized but rare feature of the disease. This case report is the first such describing acute aortic dissection and rupture in a patient who also had incidental aneurysms of his carotid and iliac arteries. A review of the literature about pathogenesis and management strategies is also presented. (J Vasc Surg 2001;34:364-6.)

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. Ann Neurol 2000;47:477–484.

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.