A large intrathoracic meningocele, a saccular protrusion of the meninges through a dilated intervertebral foramen or a bony defect of the vertebral column, was diagnosed in a 41-year-old female patient showing clinical features of neurofibromatosis-1 (NF-1), including cafe-au-lait spots, cutaneous neurofibromas, and axillary frecklings and Lisch nodules on the iris. Her daughter and son also had similar manifestations of NF-1. Regular follow-up with periodic imaging was recommended without surgical treatment because there were no signs or symptoms. Meningocele should be differentiated from posterior mediastinal tumors such as neurofibroma, neuroblastoma, and ganglioneuroma because NF-1 has a high risk of tumor formation. We report on this case with a brief review of the literature.
Adult ; Diagnosis, Differential ; Female ; Humans ; Incidental Findings ; Meningocele/*complications/*pathology ; Neurofibromatosis 1/*complications/genetics/*pathology ; Pedigree

Malignant transformation of a neurilemmoma is an exceedingly rare event. We describe a case of intrathoracic ancient neurilemmoma undergoing a malignant change in a 39-yr-old man. The patient presented with right flank and chest pain for several months. Plain radiography and CT scan of the chest showed a soft tissue mass lesion at the extrapleural space with erosion of surrounding ribs at the right basal lung area. The excised mass was encapsulated and measured 4.5 x 3.5 x 2.3 cm. The cut surface showed grayish-white and glistening with a focal cystic change and hemorrhage. Necrosis was not seen. Histologically, the tumor showed the features of classic neurilemmoma composed of the Antoni type A and B areas with perivascular hyalinization. In addition, obviously histo-logically malignant foci manifested by presence of markedly increased cellularity with fascicular arrangement, active mitotic activity, hyperchromasia, and gradual loss of original neurilemmomatous feature were noted.
Adult ; Cell Transformation, Neoplastic* ; Diagnosis, Differential ; Human ; Male ; Neurilemmoma/complications ; Neurilemmoma/pathology* ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/pathology* ; Thoracic Neoplasms/etiology ; Thoracic Neoplasms/pathology* ; Tumor Markers, Biological

A malignant peripheral nerve sheath tumor (MPNST) is an extremely rare soft tissue tumor in the general population. On the other hand, there is a higher incidence of MPNST in patients with neurofibromatosis type I (von Recklinghausen's disease). The common sites are the extremities, trunk, head and neck. However, an intraabdominal or intrathoracic manifestation is uncommon. This paper reports two patients, a 31 year-old woman with multiple neurofibromatosis presenting as an intraabdominal malignant peripheral nerve sheath tumor, and a 33 year-old woman with an intrathoracic malignant peripheral nerve sheath tumor. The patients were treated with chemotherapy followed by radiotherapy. However, one patient died as a result of disease progression 21 months after the diagnosis and the other patient is currently being treated with radiotherapy.
Abdominal Neoplasms/*diagnosis ; Adult ; Female ; Humans ; Nerve Sheath Tumors/*diagnosis ; Neurofibromatosis 1/*complications ; Thoracic Neoplasms/*diagnosis

Adolescent ; Encephalocele ; etiology ; Humans ; Male ; Meningocele ; etiology ; Neurofibromatosis 1 ; complications ; diagnosis ; therapy ; Orbital Diseases ; etiology

Patients with neurofibromatosis-1 (NF-1) have increased susceptibility to a variety of malignancies. Here, we document a rare case of two separated ileal adenocarcinomas in NF-1. The adenocarcinomas were surrounded by a diffuse tubular adenomatous lesion of the mucosa, and ganglion cells were scattered in the NF background. We found this case meaningful for several reasons: two separated adenocarcinomas arising in an unusual ileal segment, the association with precancerous tubular adenoma, and the presence of ganglion cells, which suggests ganglioneuromatosis in NF-1.
Adenocarcinoma/complications/*pathology ; Adult ; Humans ; Ileal Neoplasms/complications/*pathology ; Ileum/pathology ; Intestinal Mucosa/pathology ; Male ; Neurofibromatosis 1/complications/*pathology

BACKGROUND: Scoliosis secondary to neurofibromatosis type 1 (NF1) in children aged <10 years is an important etiology of early-onset scoliosis (EOS). This study was performed to investigate the curve evolution of patients with EOS secondary to NF1 undergoing bracing treatment and to analyze high-risk indicators of rapid curve progression. METHODS: Children with EOS due to NF1 who underwent bracing treatment from 2010 to 2017 were retrospectively reviewed. The angle velocity (AV) at each visit was calculated, and patients with rapid curve progression (AV of >10°/year) were identified. The age at modulation and the AV before and after modulation were obtained. Patients with (n = 18) and without rapid curve progression (n = 10) were statistically compared. RESULTS: Twenty-eight patients with a mean age of 6.5 ± 1.9 years at the initial visit were reviewed. The mean Cobb angle of the main curve was 41.7° ± 2.4° at the initial visit and increased to 67.1° ± 8.6° during a mean follow-up of 44.1 ± 8.5 months. The overall AV was 6.6° ± 2.4°/year for all patients. At the last follow-up, all patients presented curve progression of >5°, and 20 (71%) patients had progressed by >20°. Rapid curve progression was observed in 18 (64%) patients and was associated with younger age at the initial visit and a higher incidence of modulation change during follow-up (t = 2.868, P = 0.008 and <0.001, respectively). The mean AV was 4.4° ± 1.2°/year before modulation and 11.8° ± 2.7°/year after modulation (t = 11.477, P < 0.010). CONCLUSIONS Curve progression of >10°/year is associated with younger age at the initial visit, and modulation change indicated the occurrence of the rapid curve progression phase.
Braces ; Child ; Child, Preschool ; Disease Progression ; Humans ; Neurofibromatosis 1/complications* ; Retrospective Studies ; Scoliosis/diagnostic imaging* ; Treatment Outcome

Abdominal Pain ; etiology ; Gastrointestinal Stromal Tumors ; complications ; diagnostic imaging ; Humans ; Jejunal Neoplasms ; complications ; diagnostic imaging ; Male ; Middle Aged ; Neurofibromatosis 1 ; complications ; Radiography ; Tomography, X-Ray Computed

Vasculopathy is rarely reported in neurofibromatosis type 1, but when it occurs it primarily involves the aorta and its main branches. Among vasculopathies, aneurysmal dilatation is the most common form. Although several case reports concerning aneurysms or pseudoaneurysms of visceral arteries in neurofibromatosis type 1 patients have been reported, there are no reports describing gastroduodenal artery aneurysms associated with neurofibromatosis type 1. We experienced a case of life-threatening duodenal ulcer bleeding from a ruptured gastroduodenal artery aneurysm associated with neurofibromatosis type 1. We treated our patient by transarterial embolization after initial endoscopic hemostasis. To our knowledge, this is the first reported case of its type. High levels of suspicion and prompt diagnosis are required to select appropriate treatment options for patients with neurofibromatosis type 1 experiencing upper gastrointestinal bleeding. Embolization of the involved arteries should be considered an essential treatment over endoscopic hemostasis alone to achieve complete hemostasis and to prevent rebleeding.
Adult ; Aneurysm/*diagnosis/etiology ; Arteries ; Embolization, Therapeutic ; Gastroscopy ; Head and Neck Neoplasms/complications/*diagnosis ; Hepatic Artery/diagnostic imaging ; Humans ; Male ; Neurofibromatosis 1/complications/*diagnosis ; Peptic Ulcer Hemorrhage/*etiology ; Radiography

OBJECTIVETo investigate the pulmonary dysfunction patterns in patients of scoliosis associated with neurofibromatosis type I (NF1) and to identify factors affecting the pulmonary function in patients with scoliosis associated with NF1.

METHODSPreoperative pulmonary function tests (PFTs) were evaluated in 100 patients with scoliosis [NF1 group, 36 cases; idiopathic scoliosis (IS) group, 64 cases] from January 2003 to June 2009. According to location of apical vertebra and dystrophic change in patients with NF1, the parameters of pulmonary function [vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in one second (FEV1), maximal mid-expiratory flow (MMEF), maximal voluntary ventilation (MVV)] were compared between NF1 group and IS group, and between the subgroups of NF1. The correlation between pulmonary function parameters and radiographic parameters of scoliosis was analyzed.

RESULTSThe VC, FVC, FEV1, MMEF, MVV in NF1 group and IS group were of no significant difference (P > 0.05). In NF1 patients, the pulmonary dysfunction was more severe in thoracic subgroup than non-thoracic subgroup (P < 0.05), while there was no difference between dystrophic scoliosis and non-dystrophic scoliosis (P > 0.05). The location of apical vertebra and the severity of scoliosis correlated significantly with the pulmonary dysfunction in NF1 group.

CONCLUSIONSThe pattern of pulmonary dysfunction in scoliosis associated with NF1 is similar with IS. Pulmonary dysfunction is more severe in thoracic scoliosis. The location of apical vertebra and the severity of scoliosis are the risk factors influencing the pulmonary dysfunction.

Adolescent ; Child ; Female ; Forced Expiratory Volume ; Humans ; Lung ; physiopathology ; Male ; Neurofibromatosis 1 ; complications ; physiopathology ; Respiratory Function Tests ; Scoliosis ; complications ; physiopathology ; Vital Capacity ; Young Adult

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder that has three major features: multiple neural tumors, cafe-au-lait spots, and pigmented iris hamartomas (Lisch nodules). The purpose of this case report is to advise physicians of the danger associated with the progression of fast-onset massive hemorrhage to hemodynamic instability, which mandates rapid treatment to prevent the development of a life-threatening condition. A 64-yr-old woman with NF-1 was admitted to the Emergency Department (ED) because of a rapidly growing, 10x5x3 cm-sized mass on the left back area. She had previously undergone surgery for a large subcutaneous hematoma, which had developed on her right back area 30 yr before. She became hemodynamically unstable with hypotension during the next 3 hr after admission to ED. Resuscitation and blood transfusion were done, and the hematoma was surgically removed. The mass presented as a subcutaneous, massive hematoma with pathologic findings of neurofibroma. We report a case of NF-1 that presented as recurrent, massive, subcutaneous hemorrhage on the back region combined with hypovolemic shock.
Diagnosis, Differential ; Female ; Hematoma/etiology/pathology ; Hemorrhage/*etiology/pathology ; Humans ; Middle Aged ; Neurofibromatosis 1/*complications/pathology ; Recurrence ; Skin Diseases/*etiology/pathology ; Tomography, X-Ray Computed