Von Recklinghausen disease

Schwann-cell neoplasms (peripheral nerve sheath tumors PNST) are usually subdivided into specific neurofibromas and neurilemmomas (schwannomas) because of their differing associations with von Recklinghausen disease and the risk of malignant transformation. They also must be separated from ganglioneuromas. All of these proliferations are reactive for vimentin and... 

Shekitka KM, Sobin LH. Ganglioneuromas of the gastrointestinal tract. Relation to Von Recklinghausen disease and other multiple tumor syndromes. Am J Surg Pathol. 1994 18 250-1S7. 

Neurofibroma may occur as a sporadic tumor or as part of the dominantly inherited tumor syndrome called von Recklinghausen disease or neurofibromatosis-1 (NF-l).i Plexiform neurofibromas are multiple swollen fascicles that are associated with NF-1. Other nervous system signs of NF-1 are more than one neurofibroma, optic nerve glioma (more appropriately called optic nerve pilocytic astrocytoma), and malignant peripheral nerve sheath tumor with glandular or rhabdomyoblastic regions. ... 

Resistance to suxamethonium has been seen in von Recklinghausen s disease (4) and nemaline myopathy (5). 

Prolonged paralysis after suxamethonium has also been reported in von Recklinghausen s disease (98), but resistance to suxamethonium has also been seen (4). 

Baraka A. Myasthenic response to muscle relaxants in von Recklinghausen s disease. Br J Anaesth 1974 46(9) 701-3. 

Yamashita M, Matsuki A, Oyama T. Anaesthetic considerations on von Recklinghausen s disease (multiple neurofibromatosis). Abnormal response to muscle relaxants. Anaesthesist 1977 26(6) 317-18. 

Greatly increased sensitivity occurs in myasthenia (44) and may even be seen in premyasthenic patients with no overt symptoms (45). Increased sensitivity has also been reported in amyotrophic lateral sclerosis (46), von Recklinghausen s disease (47), and ocular muscular dystrophy (48). Patients with Duchenne muscular dystrophy have prolonged block in the regional curare test (49), but other investigators have disputed whether an altered response to non-depolarizing relaxants occurs in this condition. 

Fuller CE, Williams GT. Gastrointestinal manifestations of type 1 neurofibromatosis (von Recklinghausen s disease). Histopathol-ogy. 1991 19 1-11. 

Davis GB, Berk RN. Intestinal neurofibromas in von Recklinghausen s disease. Am J Gastroenterol. 1973 60 410-414. 

Fabricant, R.N. and Todaro, G.J. (1981) Increased serum levels of nerve growth factor in von Recklinghausen s disease. Acta Neurol. 38 401-405. 

The typical bone disease caused by hyperparathyroidism is von Recklinghausen s disease of bone. The histopathogenesis of the bone disease can be classified as decalcification, loss of organic matrix, and fibrous proliferation. In those areas of the bone affected by the disease, the bone salts are lost first. Demineralization is followed by a loss of matrix substance and invasion of the area by osteoclasts. The proliferation of the osteoclast may be so considerable that it may lead to the formation of brown giant cell tumors. Fibrous tissue proliferates in the digested areas, and the new connective tissue may or may not become calcified. These areas of demineralization and fibrosis become susceptible to fracture, creating a typical radiological picture. 

Although all cases of renal insufficiency may lead to moderate hyperplasia of the parathyroid associated with mild signs of demineralization of the skeleton, only in those cases in which slow and progressive destruction of the renal parenchyma occurs does renal osteitis fibrosa cystica generalisata (a disease resembling von Recklinghausen s disease) develop. In these advanced cases, metastatic calcification in soft tissue may also be found. Renal biopsy may prove useful in the differential diagnosis of primary and secondary hyperparathyroidism. 

The vascular supply to the kidney is considered end-organ, and infarction is common after embolization. Therefore, in patients with renal insufficiency or underlying diseases such as tuberous sclerosis or von Recklinghausen s disease, nephron-sparing procedures are vital. Superselective embolization is advisable in all cases of renal artery embolization unless partial or total nephrectomy is planned. 

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