Neurofibromatosis type 1 disease is characterized by pigmented cutaneous lesions and generalized tumors of a neural crest origin and it may affect all the systems of the human body. Sphenoid dysplasia is one of the characteristics of this syndrome and it occurs in 5-10% of the cases; further, abnormalities of the sphenoid wings are often considered pathognomonic. However, complete agenesis of a sphenoid wing is very rare. We report here on an unusual case of neurofibromatosis type 1 disease with the associated absence of a sphenoid wing that was diagnosed by using multidetector computed tomography.
*Tomography, X-Ray Computed ; Sphenoid Bone/*abnormalities/radiography ; Neurofibromatosis 1/*radiography ; Male ; Imaging, Three-Dimensional ; Humans ; Adult

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.
Angiography ; Embolization, Therapeutic/*methods ; Female ; Hemothorax/*etiology/radiography/*therapy ; Humans ; Middle Aged ; Neurofibromatosis 1/*complications ; Rupture, Spontaneous ; Tomography, X-Ray Computed

Bone Neoplasms ; diagnosis ; diagnostic imaging ; pathology ; Cafe-au-Lait Spots ; diagnosis ; pathology ; Child ; Diagnosis, Differential ; Female ; Fibroma ; diagnosis ; diagnostic imaging ; pathology ; Humans ; Neurofibromatosis 1 ; diagnosis ; Radiography ; Syndrome

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

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

Neurofibromatosis type 1 is characterized by cutaneous neurofibromas and pigmented lesions of the skin called cafe au lait spots. Although neurofibromatosis type 1 represents a major risk factor for the development of malignancy, especially of nervous system tumors, malignant lymphoma rarely occurs in a patients with neurofibromatosis type 1. Recently, a 77-year-old woman with neurofibromatosis type 1 was diagnosed as non-Hodgkin's Lymphoma (diffuse large B cell). She had multiple cafe au lait spots, neurofibromas and right axillary lymph node enlargement. An abdominal CT scan demonstrated a left pelvic mass and para-aortic lymphadenopathy. Because non-Hodgkin's Lymphoma in a neurofibromatosis patient has never been reported in Korea, herein, we describe this case and include a review of the literature.
Aged ; Cafe-au-Lait Spots/complications/pathology ; Female ; Human ; Lung Neoplasms/*complications/pathology/radiography ; Lymphoma, Non-Hodgkin/*complications/pathology/radiography ; Neurofibromatosis 1/*complications/pathology/radiography ; Tomography, X-Ray Computed

Von Recklinghausen's disease is an autosomal dominant hereditary disease associated with characteristic cafeau-lait spots of skin and multiple neurofibromatosis. It is complicated by malignancies, which in most cases is neurofibrosarcoma. The development of lung cancer in von Recklinghausen's disease is rare. A 61-year-old male was admitted for cough and sputum for 20 days. He had multiple cafe-au-lait spots and subcutaneous neurofibromas in whole body area and Lisch nodules in both iris and he had been diagnosed von Recklinghausen s disease 35 years ago. Chest radiography showed emphysematous buliae in both upper lung field and mass in right upper lung field. Chest CT scan revealed subcarinal lymph node enlargement. Bronchoscopic biopsy was done in mass in superior segment of right lower lobe and the results showed squamous cell carcinoma. The presence of von Recklinghausen's disease and lung cancer are noteworthy.
Biopsy ; Cafe-au-Lait Spots ; Carcinoma, Squamous Cell ; Cough ; Genetic Diseases, Inborn ; Humans ; Iris ; Lung Neoplasms* ; Lung* ; Lymph Nodes ; Male ; Middle Aged ; Neurofibroma ; Neurofibromatoses ; Neurofibromatosis 1* ; Neurofibrosarcoma ; Radiography ; Skin ; Sputum ; Thorax ; Tomography, X-Ray Computed

OBJECTIVETo retrospectively analyze the relationship between curve types and clinical results in surgical treatment of scoliosis in patients with neurofibromatosis type 1 (NF-1).

METHODSForty-five patients with scoliosis resulting from NF-1 were treated surgically from 1984 to 2002. Mean age at operation was 14.2 years. There were 6 nondystrophic curves and 39 dystrophic curves depended on their radiographic features. According to their apical vertebrae location, the dystrophic curves were divided into three subgroups: thoracic curve (apical vertebra at T8 or above), thoracolumbar curve (apical vertebra below T8 and above L1), and lumber curve (apical vertebra at L1 and below). Posterior spine fusion, combined anterior and posterior spine fusion were administrated based on the type and location of the curves. Mean follow-up was 6.8 years. Clinical and radiological manifestations were investigated and results were assessed.

RESULTSThree patients with muscle weakness of low extremities recovered entirely. Two patients with dystrophic lumbar curve maintained their low back pain the same as preoperatively. The mean coronal and sagittal Cobb's angle in nondystrophic curves was 80.3 degrees and 61.7 degrees before operation, 30.7 degrees and 36.9 degrees after operation, and 32.9 degrees and 42.1 degrees at follow-up, respectively. In dystrophic thoracic curves, preoperative Cobb's angle in coronal and sagittal plane was 96.5 degrees and 79.8 degrees, postoperative 49.3 degrees and 41.7 degrees, follow-up 54.1 degrees and 45.3 degres, respectively. In thoracolumbar curves, preoperative Cobb's angle in coronal and sagittal plane was 75.0 degrees and 47.5 degrees, postoperative 31.2 degrees and 22.8 degrees, follow-up 37.5 degrees and 27.8 degrees, respectively. In lumbar curves preoperative Cobb's angle in coronal plane was 55.3 degrees, postoperative 19.3 degrees, and follow-up 32.1 degrees. Six patients with dystrophic curves had his or her curve deteriorated more than 10 degrees at follow-up. Three of them were in the thoracic subgroup and their kyphosis was larger than 95 degrees, and three in lumbar subgroup. Hardware failure occurred in 3 cases. Six patients had 7 revision procedures totally.

CONCLUSIONSPosterior spinal fusion is effective for most dystrophic thoracic curves in patients whose kyphosis is less than 95 degrees. Combined anterior and posterior spinal fusion is stronger recommended for patients whose kyphosis is larger than 95 degrees and those whose apical vertebra is located below T8. Patients should be informed that repeated spine fusion might be necessary even after combined anterior and posterior spine fusion.

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Follow-Up Studies ; Humans ; Kyphosis ; diagnostic imaging ; etiology ; surgery ; Male ; Neurofibromatosis 1 ; complications ; Radiography ; Retrospective Studies ; Scoliosis ; diagnostic imaging ; etiology ; surgery ; Spinal Fusion ; methods