Leiomyosarcoma of urinary bladder in von Recklinghausen's neurofibromatosis.

A case of leiomyosarcoma of the urinary bladder is reported in a sixty-six-year-old black male with associated von Recklinghausen's neurofibromatosis.     

Colonic obstruction in a child with von Recklinghausen's neurofibromatosis

A child is reported who developed partial colonic obstruction from an intussuscepting polypoid mass in the transverse colon. A 5 cm plexiform ganglioneurofibroma was found at laparotomy. Examination of the entire gastrointestinal tract revealed no other neurogenic tumors. Gastrointestinal involvement by neurofibromatosis in children is rare; however, children with von Recklinghausen's disease who complain of vague abdominal symptoms should be evaluated for gastrointestinal tumors.     

Cerebrovascular disorders associated with von Recklinghausen's neurofibromatosis: a case report

A 28-year-old woman with von Recklinghausen's neurofibromatosis (NF-1) had a huge hematoma in the left posterior nuchal region. Carotid and vertebral angiograms revealed marked stenosis at the C3 portion of the left internal carotid artery, slight moyamoya staining, occlusion of the left vertebral artery at the atlas level, and a right internal carotid artery aneurysm. The radiographic, clinical, and histological features of this case are discussed together with a review of 42 similar cases found in the literature.     

Gastrointestinal stromal tumors of neurofibromatosis type I (von Recklinghausen's disease)

Gastrointestinal stromal tumor (GIST), as well as the hyperplastic lesions of intestinal neural tissue and its supporting structures, is a gastrointestinal complication of type 1 neurofibromatosis (NF1) (von Recklinghausen's disease). In the present study, we analyzed the histologic and immunohistochemical features, and the c-kit and PDGFRA gene mutations of 36 GISTs derived from 9 NF1 patients. Distinctively, multiple GISTs arose preferentially in the small intestine. The histologic features of NF1-associated GISTs are almost similar to those of non-NF1 GISTs, but characteristically most of the NF1-associated GISTs contained skeinoid fibers. Thirty-three GISTs (92%) showed immunoreactivity for KIT, and 23 tumors (64%) showed diffuse or mosaic-like immunoreactivity for S-100 protein. Hyperplasic lesions, which may be the hyperplasia of interstitial cells of Cajal, were observed around some GISTs. Exons 9, 11, 13, and 17 of the c-kit gene and exons 12 and 18 of the PDGFRA gene were amplified and directly sequenced. Point mutations of c-kit gene or PDGFRA gene were identified only in three (8%) and two (6%) tumors, respectively. NF1-associated GISTs, showing the dual differentiation of interstitial cells of Cajal and Schwann cells, develop in close association with the myenteric nerve structure of gastrointestinal tract of NF1 patients. The point mutations of c-kit and PDGFRA gene may play a limited role in the tumorigenesis of NF1-associated GISTs.     

Nontumoral aqueductal stenosis in children affected by von Recklinghausen's disease

The authors report three cases of primary nontumoral aqueductal stenosis associated with von Recklinghausen's disease in children. Moreover, 16 similar cases collected from the literature are presented. The clinical features are evaluated in light of data from the literature. Among all 19 cases, the median age was 19 years (range 6-46 years), and nine patients were under the age of 13 years. Our own patients underwent ventriculoatrial shunt procedures, followed by clinical recovery (follow-up 2-5 years). In one patient, computed tomography scanning performed 20 months after the operation showed a chronic calcified subdural hematoma in the right frontoparietal area. In conclusion, it is felt that, among all the pathological events usually described in patients affected by neurofibromatosis, primary aqueductal stenosis seems to be part of the natural history of this neurological syndrome.     

Hypophosphatemic osteomalacia complicating von Recklinghausen's neurofibromatosis: increase in spinal density on treatment

A 62-year-old white male with neurofibromatosis presented with multiple fractures and bone pain. He was found to have hypophosphatemic osteomalacia secondary to a renal tubular phosphate leak and was treated with phosphate, 1,25-dihydroxycholecalciferol and calcium. With treatment, his dual photon vertebral bone density increased markedly over 12 months. Repeat iliac crest bone biopsies showed that improvement in bone histology was predominantly cortical. This suggests that dual photon absorptiometry of the spine may be markedly influenced by changes in cortical bone status.     

Malignant melanoma of the penis associated with von Recklinghausen's neurofibromatosis: report of a case

A 69-year-old male patient visited our clinic with complaints of dysuria and bleeding at the glans of penis on May 2, 1985. At the first presentation the tumor mass with necrotic and hemorrhagic character was localized around the urethral orifice and the entire glans of penis had a hard consistency. Moreover, numerous soft cutaneous nodules ranging from a small bean to a hen's egg in size spread over the total body surface. The nodules varied in property from even in height on the skin surface, half-spherical, and pedunculated. His family history was not contributory as far as neurofibromatosis was concerned. On May 15, the glans of penis was amputated and histological diagnosis was malignant melanoma with marked vascular and neural permeation. Review of the literature showed that our patient is the third case of malignant melanoma associated with neurofibromatosis in Japan.