"Vascular neurofibromatosis" and infantile gangrene.

An 11-year-old boy with slowly progressive gangrene caused by vasculopathy similar to that of neurofibromatosis (NF) type 1 (NF I; von Recklinghausen disease [NFvR]) and a newborn girl with idiopathic gangrene with vascular changes resembling those of NFvR prompted the analysis of all 105 propositi with NF (NF I and NF II) evaluated between January 2, 1982, and December 31, 1986, at the genetics clinic of University of South Florida. They were analyzed for renal hypertension, symptomatic ischemia, and known vascular changes. One additional 27-month-old boy with NFvR was found to have extensive vascular changes with renal hypertension. The vasculopathy indicated asymmetric over/undergrowth of cellular and extracellular components of the vascular wall and implied dysregulation of the paracrine growth mechanism. Immunocytochemical studies of affected vessels were done only in the 11-year-old boy and showed positive neuron-specific enolase, S-100 protein, and glial fibrillary acidic protein (GFAP) reactions indicative of Schwann cell involvement. The vascular changes in children with NFvR are mostly asymptomatic; however hypertension secondary to renal artery stenosis and/or Moya-moya disease have been reported infrequently. Our patients with vasculopathies provoked thoughts in regard to the so-called vascular NF, its place in current NF nomenclature and classification, relationship to fibromuscular dysplasia (FMD), and possible role in infantile gangrene.

Scintigraphic differentiation of congenital soft-tissue extremity enlargement with Tc-99m DTPA.

Radionuclide imaging of benign soft-tissue tumors sometimes associated with extremity enlargement (7 patients) and/or osteodysplasia (6 patients) has demonstrated, in a total of 18 patients, several differentiating patterns of accumulation of Technetium-99m diethylene triamine pentaacetic acid (Tc-99m DTPA). Early imaging (within 15 min) as well as later imaging (one-half hour to 3 hours following the intravenous injection of the radiopharmaceutical) has shown that fatty tumors (lipomas, lipoblastomas, fibrofatty tissue) do not concentrate the isotope. Neurofibromas display gradual intensification of their radioactive content, while hemangiomas differ in their scintigraphic pattern depending on their histologic composition. Purely capillary hemangiomas have transient early intense activity while purely cavernous hemangiomas display no early activity but are well visualized on delayed scintigraphic images. Mixed hemangiomas display combined imaging characteristics of both capillary and cavernous types with the predominant pattern dependent upon the predominant histology. Aggressive fibromatosis exhibited an early fleeting display of intense radioactivity.

Congenital disseminated neurofibromatosis: a "benign" diagnosis with malignant prognosis.

A neonate with congenital disseminated neurofibromatosis involving skin, subcutaneous tissues retropharyngeal, retroperitoneal and urinary bladder is presented. The massive presentation precluded radical surgical approach. This seems to be the first report of congenital widely disseminated neonatal neurofibromatosis in the English literature.

Neurofibromatosis and associated neuroectodermal tumors: a congenital neurocristopathy.

The synchronous occurrence of neurofibromatosis and neuroblastoma has been labeled in the recent literature as a chance event. We report 2 cases of newborn infants with congenital neurofibromatosis and a similar midline pattern of multiple Schwann cell and neuroblastic tumors; other types of ectomesenchymal tumor differentiation are documented, along with supportive ultrastructural and immunohistochemical studies. The tumors may take an aggressive, fatal course despite maximal multimodality antitumor therapy. These 2 cases are reported, with additional literature review, to document a clinically recognizable neurocristopathy that links neuroblastic tumors and neurofibromatosis.

[Diagnostic and therapeutic problems of congenital pseudarthrosis of the lower leg in children]. / Diagnostische und therapeutische Probleme der kongenitalen Pseudarthrose des Unterschenkels bei Kindern.

So-called pseudarthrosis of the lower leg is a rare condition whose treatment entails major therapeutic problems. The first symptoms of this disease are structural changes thinning, and sclerosis of the tibia and fibula, as well as varus and antecurvation malposition? of the axis. In all of the authors' patients the pseudarthrosis occurred as a secondary phenomenon, three times in attempts to correct the lower leg axis surgically; in two children spontaneous fractures occurred due to fatigue and in two others after stumbling. In all seven of the surgically treated children and in three of the six in the outpatient group café-au-lait spots were seen. The neurofibromatosis was also confirmed by histological examinations in all of the surgically treated children. Not only the views concerning etiology, but also therapy have changed. Our present treatment method is undoubtedly a success as compared to that used on our first patients. On the basis of our surgical experience so far we can recommend the following method: resection of the pseudarthrosis with removal of all pathologically changed tissue (also by fraising), insertion of Küntscher nails from the heel to the tibia, adequate covering of the pseudarthrosis location with spongiosa grafts from the pelvic ridge. If necessary, the intervention should be repeated.

Massive bleeding in neurofibromatosis associated with congenital hypofibrinogenaemia: a case report.

A 22 year old male who bled profusely at operation for excision of an extensive scalp and facial neurofibromata is reported. He was found to have congenital hypofibrinogenaemia. It is suggested that hypofibrinogenaemia should be considered as a cause of excessive bleeding in cases of Von Recklinghausen's neurofibromatosis.

[Congenital ectropion of the iris epithelium and glaucoma]. / Ectropion congénital de l'épithélium irien et glaucome.

Two cases of unilateral ectropion uveae with ipsilateral juvenile glaucoma are reported including one with ipsilateral ptosis. This rare, non progressive anomaly, is characterized by the presence of iris pigment epithelium on the anterior surface of iris stroma, quite often associated with neurofibromatosis, ipsilateral ptosis or Rieger's syndrome. Congenital or juvenile glaucoma is almost systematically associated with the condition and must be evaluated and treated. Pathogeny of the anomaly has to be interpreted keeping in mind the concept of neurocristopathy, i.e. developmental anomalies of neural crest origin tissues.

Diffuse, multicentric neurogenic tumors in two macerated fetuses: a possible intrauterine form of neurofibromatosis.

Two tiny macerated fetuses with a remarkably similar pattern of multicentric neurogenic neoplasms of both paravertebral autonomic structures and peripheral nerves are described. Maceration precluded further histologic classification of the neoplasms in either fetus. The first fetus had a Meckel's diverticulum, short attachment of the small bowel mesentery, pulmonary hypoplasia, and intrauterine growth retardation. The second had the sympus bipus variant of sirenomelia sequence. The multicentric neoplasms in these two fetuses are very similar to those previously described in a few neonates and one stillborn with well-documented or suspected neurofibromatosis. It is reasonable to hypothesize that these two fetuses may represent an early intrauterine expression of neurofibromatosis characterized by multicentric neurogenic neoplasms of autonomic structures and peripheral nerves. Detailed examination of early abortuses, especially those from families with neurofibromatosis, may help to confirm or disprove the hypothesis.

Paraganglioma of the duodenum in association with congenital neurofibromatosis. Possible relationship.

A case of a duodenal paraganglioma in a patient with von Recklinghausen's disease is presented, along with a review of the common clinical features of the 26 cases of duodenal paraganglioma and related neurogenic tumors reported in the literature. There was no reported evidence of recurrence or metastasis. Local excision was the most commonly employed method of treatment. It is proposed that duodenal paraganglioma with its admixed components and variable histologic features may represent hamartomatous hyperplasia of the paraganglia and the supporting neuroid tissue in this area. This would explain the benign behavior of these tumors as compared with carcinoids. Its association, in this case, with neurofibromatosis supports the neural crest origin of duodenal paragangliomas.

Congenital ectropion uveae with glaucoma.

Congenital ectropion uveae (CEU) is a rare, nonprogressive anomaly characterized by the presence of iris pigment epithelium on the anterior surface of the iris stroma, often associated with neurofibromatosis and occasionally with other ocular anomalies. We present eight patients with unilateral CEU. Seven patients had glaucoma in the involved eye, while the eighth was a 10-week-old infant. In the two patients with bilateral glaucoma, the second eye was similar to the first, but without CEU. Three patients had neurofibromatosis, two had facial hemihypertrophy, one had Rieger's anomaly, one had Prader-Willi syndrome, and one had no systemic anomalies. Two had initially been misdiagnosed as having a large pupil in the involved eye and one as having a Horner's syndrome in the uninvolved eye. The finding of CEU in an infant warrants continued observation for the development of glaucoma and disorders of neural crest origin.

Congenital neurofibromatosis. Multiple subcutaneous tumors with spontaneous regression in twins.

Multiple subcutaneous tumors were found at birth in a pair of identical twins, and the histological diagnosis was neurofibroma. The tumors disappeared within seven months. This disorder must be differentiated from congenital generalized fibromatosis, which usually shows a malignant course.

Congenital pseudarthrosis of the ulna due to neurofibromatosis.

Two cases of congenital pseudarthrosis of the ulna due to neurofibromatosis are reported. Similar radiographic changes in the ulna were found, with distortion of the capitulum and part of the trochlea and bowing of the radius. In one patient the head of the radius was dislocated and in the other it dislocated readily during pronation. A possible mechanism to explain the findings was suggested. On the basis of these and a review of the literature it is recommended that the main aim of treatment should be maintenance of the normal relative lengths of the radius and ulna by early excision of the pseudarthrosis to remove the restraining effect of the abnormal ulna. This will allow normal development of the lower end of the humerus and radius and prevent dislocation of the radial head.

[Neonatal neurofibromatosis (author's transl)]. / Neurofibromatosis neonatal. Aportación de un caso.

Authors present a patient born with fibular pseudoarthrosis and tibial bowing of the same side. X-ray findings and biopsy confirm diagnosis of neurofibromatosis. The clinical findings of the disease are reviewed with special mention of bone manifestations.

Congenital "pseudarthroses" of the tibia: treatment with pulsing electromagnetic fields.

During the past seven years, 34 patients with infantile nonunions associated with congenital "pseudarthroses" completed treatment with pulsing electromagnetic fields (PEMFs). An analysis of results reveals that 17/34 (50%) have achieved complete healing with biomechanically sound union and radiographic demonstration of remedullarization. Union with function, i.e., healing with continued need for protection, was achieved in 7/34 (21%). Failure was the outcome in 10/34 patients (29%). Most of these occurred in males with a history of early fracture (less than 1 year) and with spindled, hypermobile lesions (Type III). During the early period of the study, PEMFs were the sole means of treatment. After a "coil effect" had been demonstrated, surgical realignment, immobilization and grafting were combined with PEMF treatment. Fundamentals of orthopedic management developed by the larger experience with adult nonunions were found to apply equally to infantile nonunions treated with PEMFs. These include effective immobilization of the fracture site and controlled "stress working" during recovery to facilitate gradual remodeling. PEMFs have been demonstrated to be a potentially useful adjunct in the orthopedic surgeon's armamentarium for treating infantile nonunions (congenital "pseudarthroses").

Congenital pseudarthrosis of the tibia: treatment with vascularized autogenous fibular grafts. A preliminary report.

A review of the literature concerning the classification, etiology, histology and treatment of congenital pseudarthrosis of the tibia is presented. The authors describe two patients in whom resection of the lesion and reconstruction of the extermity with free vascularized fibular grafts were performed. Preliminary results after a short period of follow-up indicate that the technique may be an appropriate method for treatment of congenital pseudarthrosis of the tibia, since "the living graft" is not dependent upon the recipient bed for survival. Progressive hypertrophy of the graft without resorption is demonstrated.