Les manifestations ophtalmologiques au cours de la maladie de Von Recklinghausen sont rares. Seulement quelques cas ont été rapportés dans la littérature internationale. Nous rapportons un cas d'exophtalmie pulsatile révélatrice d'une agénésie sphéno-orbitaire au cours de la maladie de Von Recklinghausen. which permits unrestricted use, distribution, and reproduction in any medium, provided the...

Two patients with von Recklinghausen disease (neurofibromatosis type 1) were admitted to the hospital because of progressive heart failure. Both patients had prominent pulmonary hypertension revealed on cardiac catheterization. A lung perfusion scan did not show any gross defect. There were no underlying causes of pulmonary hypertension in either patient, such as chronic lung disease, congenita...

Although von Recklinghausen, in 1882, was the first to describe the pathology of the disease, it is interesting to note that one of our own countrymen, Robert W. Smith, after research in two cases, published an account of the condition in 1849. Von Recklinghausen, however, was the first to offer the now accepted theory of neuro-fibromatosis. The disease is characterized by multiple painless nod...

Von Recklinghausen neurofibromatosis is a common autosomal dominant genetic disorder characterized by benign and malignant tumors of neural crest origin. Significant progress in understanding the pathophysiology of this disease has occurred in recent years, largely aided by the development of relevant animal models. Von Recklinghausen neurofibromatosis is caused by mutations in the NF1 gene, wh...

We describe a surgical emergency due to GI-bleeding caused by gastrointestinal autonomic nerve tumours (GANT s) in a patient with von Recklinghausen s disease. A 72 year old female patient with von Recklinghausen s disease was admitted with maelena. Endoscopy showed no active bleeding in the stomach and the colon. Therefore an angio-CT-scan was performed which revealed masses of the proximal je...

Plexiform neurofibroma is a rare variant but pathognomonic of von Recklinghausen disease. We report an uncommon presentation of neurofibromatosis type I in a girl. This 11-year old girl had multiple plexiform neurofibromas on her left hand, and also several Lisch’s nodules. Classification and clinical features are discussed briefly with emphasis on the possibility this condition may not be give...

Bericht einer seltenen Lokalisation der Neuro­fibromatose von Recklinghausen bei einem 6 jahri­gen Madchen. In dieser publikation wurde zunachst die krankheit in kurzem besprochen und anschlie­send ein intcressanter Fall mil exzeptionaler Lokali­sation namlich Befall oberen Anteils des Mediasti­nums mit klinischem Bild einer akuten - Luftnot - situation vorgestellt.  R·EFERENCES 

Linkage analysis on a panel of 15 Von Recklinghausen neurofibromatosis (VRNF) families with 19 polymorphic markers was carried out using the computer programme M-Link. Our findings have excluded VRNF from a significant proportion of the genome.

La maladie de Von Recklinghausen ou neurofibromatose de type I (NF1) fait partie du groupe des phacomatoses. C'est une maladie génétique qui touche autant les femmes que les hommes. Elle résulte d'un désordre précoce de l'embryogenèse. Les lésions provoquées par cette maladie sont très polymorphes, touchant de nombreux organes. Les nodules de Lisch constituent la seule manifestation oculaire de...