A case of central neurofibromatosis.

The clinical and pathological features of multiple neurofibromatosis (von Recklinghausen's disease) are usually striking and often rather bizarre. It has hence attracted much interest and is well described and illustrated. Recent accounts include those by Willis (1958) and Russell and Rubinstein (1959); a fuller review in German by Schmincke (1956) is mainly devoted to the description and interpretation of the nerve lesions. Of the many earlier reports, that of Preiser and Davenport (1918) retains, perhaps, most of its interest. The disease is characterized by the occurrence of multiple dysplasic and proliferative changes in nerves, the central nervous system and other tissues. The skin is commonly affected, showing patchy brown pigmentation-cafe-au-lait spots, pigmented naevi, hamartomata, hypertrichosis and haemangiomata. The cutaneous neurofibromata may be sessile or pedunculated. Many other associated abnormalities have been observed, some frequently and others only occasionally, and perhaps, coincidentally. Thus, combination with the Ehlers-Danlos syndrome has been reported by Ormea and Depaoli (1954) and with dermatolysis (Alibert) by Schirren and Buhl (1959). Adenoma sebaceum, which is characteristic of tuberous sclerosis, may occur also in cases of multiple neurofibromatosis (Bodechtel, 1950), and renal hamartomata, as in tuberous sclerosis, were present in a case described by Schairer (1934). Skeletal anomalies have included spinal scoliosis and kyphoscoliosis (Allibone, Illingworth and Wright, 1960), atlanto-occipital fusion with basilar impression (Zacks, 1960), pseudoarthrosis of the tibia, general or localized acromegaly, dwarfism, asymmetry of the face and skull, pelvic deformity, anomalies of fingers and toes, and bony exostoses, cysts and pressure erosions. The cranial abnormalities have recently been discussed by Meinardus (1958). Changes reported in other organs included macroglossia, chromaffin tumours of the adrenals (Guenther, 1959), Turner's syndrome, ovarian dysplasia and pseudohermaphrodism. The intestinal manifestations of neurofibromatosis have been dealt with in detail by Feyrter (1948). In a number of publications Inglis (1950, 1952a, 1952b) expressed his hypothetical views on the interrelations between the manifold changes in this condition. The commonest intracranial and intraspinal manifestations of the disease are involvement of the nerve roots and nerves, the lesions resembling, in the main, those of the peripheral nerves. Of the cranial nerves, the VIII and V seem to be most frequently affected, often bilaterally. The optic nerves may also be involved, but since their normal histological structure resembles the C.N.S. rather than other nerves, the change assumes the form of gliosis or gliomatosis. The meninges may show areas of multiple dysplasia or tumours, and a case of meningeal sarcomatosis was reported by Sillevis Smitt and Bijl (1955). Gliotic or gliomatous change may also occur, focally or diffusely, within the substance of the brain and spinal cord. More generalized encephalomyelopathy has been present in a few instances, e.g. hydrocephalus, meningomyelocele, syringomyelia and hydromyelia. The relative frequency of intrathoracic meningocele in cases of neurofibromatosis has been noted by Kessel (1951). A notable feature of the condition is the wide histological range of the lesions which may present all gradations from scarcely recognizable dysplasia to hypertrophy, hyperplasia and benign or malignant neoplasm (Hosoi, 1931). It is generally accepted that the chief constituents of the lesion are the supporting elements of neural tissue: Schwann cells, fibrous tissue, blood vessels, meningeal structures and glial cells. Possible participation by neurons and their processes has been reported by some authors, but this is not generally accepted. Remnants of axis cylinders, myelin sheaths and neurons are, of course, commonly present among the proliferating elements within the lesions, and there is also some evidence of the usual local temporary neural regenerative processes. Thus, proliferative changes in the subcutaneous reticulum of the autonomic nervous system in the 'younger' skin lesions have been described by Thies (1954). Degenerative changes, including hyalinization, calcification,