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Some 20 years after the first observations published on neuromas (William Wood in 1828),1 Robert William Smith published his treatise on neuromas,2 which included a full description of von Recklinghausen’s multiple neurofibromatosis.3 But the year 1592 may be the first in which a person with neurofibromatosis was described.4
In the Medical Transactions of the Royal College of Physicians, London, forerunner of the JRCP, Mark Akenside (1721–70), gave a recognisable account of multiple neurofibromatosis. The acoustic neuroma may be symptomatic of NF2 but, more often is a solitary schwannoma. One of the earliest illustrations is to be found in Cruveilhier’s classic two volume atlas (vol 1 1835, Vol 2 1842).6 Jean Cruveilhier (1791–1874) was the first professor of pathological anatomy in Paris and the first to describe the white matter plaques in multiple sclerosis.7 Spillane8 regarded Cruveilhier as “the prince of these physician-pathologists”. His excellent illustration (livraison 26, Plate 2)8 shows a large nodular left cerebello-pontine mass in a 26 year old woman whom Cruveilhier attended in the last three months of life. The onset he relates, was with headaches and she lost her hearing from the age of 19. At 20, there was impairment of vision in the right eye; at 21, involuntary twitching of the left cheek. Vision worsened and she became blind and in her last year, the convulsive movements of the left side of her face became stronger and more frequent and spread accompanied by spasms of rigidity of the arms. There developed tingling in the left cheek and increasing headache. Cruveilhier’s examination showed no paralysis and “she got up every day” until the last month. He diagnosed a meningeal tumour compressing the brain and thought it was situated at the base.
At autopsy, he found a large tumour in the posterior fossa compressing brain stem and cerebellum, with bilateral optic atrophy and involvement of the cranial nerves V to XI. It was adherent to the back of the left petrous bone and had eroded the internal auditory meatus.
Curiously, ataxia is not described, but this may have been overlooked, or masked by her blindness.8 The compression of the facial nerve suggests that Cruveilhier’s patient may have been one of the first to have facial myokymia.