|Year : 1966 | Volume
| Issue : 3 | Page : 131-134
Von Recklinghausen's disease- an unusual case
SP Gupta, RC Saxena, S Ramchand
Department of Ophthalmology, King George's Medical College, Lucknow, India
|Date of Web Publication||16-Jan-2008|
S P Gupta
Department of Ophthalmology, King George's Medical College, Lucknow
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Gupta S P, Saxena R C, Ramchand S. Von Recklinghausen's disease- an unusual case. Indian J Ophthalmol 1966;14:131-4
|How to cite this URL:|
Gupta S P, Saxena R C, Ramchand S. Von Recklinghausen's disease- an unusual case. Indian J Ophthalmol [serial online] 1966 [cited 2020 Aug 8];14:131-4. Available from: http://www.ijo.in/text.asp?1966/14/3/131/38642
Von Recklinghausen's disease or Neurofibromatosis which is grouped under Phacomatosis was first described by Von-Recklinghausen as far back as 1882. It is of congenital origin characterised by tumours of skin, cutaneous pigmentations, multiple tumours arising from the sheats of the cranial, spinal, peripheral and sympathetic nerves, abnormalities of bones, defective development of the central nervous system, other developmental abnormalities and buphthalmos. Incomplete forms of the disease are more commonly observed.
There is no part of the eye or adnexa which escapes participation and numerous cases have been described in which there have been deviations from the standard original description.
Although ocular manifestations in the conjunctiva, cornea, iris, choroid, and orbit have been described, manifestations in the cranial nerves are particularly rare. Out of the latter, according to Martin and Cushings (1923) the optic nerve is least affected and the acoustic nerve the most. Various types of intracranial tumors like neurofibroma, gliomas and meningeal psammomas have been described, associated with Recklinghausen's disease, - Shapland and Greenfield (1935).
Herewith an unusual case is presented which showed extensive ocular and intracranial involvements
| Case Report|| |
Patient, A.-A., aged 28 years, male, came to the Ophthalmic Section of Gandhi Memorial and Associated Hospitals, Lucknow in March, 1964. He developed diminution of vision in his right eye about 8 years back and subsequently noticed drooping of right upper lid and within two years he developed complete ptosis and marked diminution of vision in this eye. Six months back he developed severe headache and vertigo and subsequently within a few months developed unsteady gait and diminished hearing from the left ear.
General examination of the patient revealed small nodular swellings over the body, especially at the back [Figure - 1], above left eye brow [Figure - 2] and on the medial side of the right elbow [Figure - 2]. Cafe-au-lait spots were present on the back.
Nervous system : The patient was fully conscious and oriented. His speech was slurring (dysarthric speech). He was markedly ataxic and was unable to walk in a straight line with a tendency to fall to the left side. Besides this, there were multiple asymmetrical cranial nerve involvements. There was total III Cranial N palsy on the right side and a partial involvement of the same on the left side as adduction and elevations of left eye were also limited. Corneal reflexes were absent in both the eyes showing involvement of the trigeminal though muscles of mastication were not affected. There was VIII nerve involvement of the left side and XII nerve involvement of the right side [Figure - 3].
Fundus showed primary optic atrophy in the right eye and post-oedematous atrophy in the left eye, suggestive of a Foster-Kennedy syndrome.
Direct pupillary reaction was absent in right eye and sluggish in the left, while consensual reaction was absent in both the eyes.
Vision was finger counting at 1 foot in left eye while there was no perception of light in the right eye.
Examination of the visual fields showed a temporal hemianopsia on the left side whereas on the right side the vision was totally lost. [Figure - 4]
Examination for cutaneous sensitivity did not reveal any abnormality except corneal insensitivity described above.
Deep tendon reflexes were generally hypoactive and planters were bilaterally flexor
| X-Ray Skull|| |
There was a midline circular radiopaque shadow which was partly behind the sella and partly intrasellar as shown by X-ray skull and tomograms. There was no separation of sutures or silver beaten appearance. The Dorsum sellae shows slight decalcification. Size of the sella is within normal limits [Figure - 5],[Figure - 6],[Figure - 7]. The patient did not give consent for ventriculography.
| Histopathology of the Skin Nodule|| |
The tumour is composed of interlacing strands of elongated cells arranged in a whorl like fashion. The cells are thin and elongated having thin rim of cystoplasm and oval or elongated prominent nuclei. There is very little laying down of collagen fibres [Figure - 8].
All other clinical examinations, and laboratory investigations showed no abnormality.
| Comments|| |
The case is unusual in the sense that there were multiple cranial nerve involvements. The multiple, isolated and asymmetrical involvement of the cranial nerves could be explained by the possibility of having multiple intracranial tumours. As evident by the X-ray tomograms the tumour near the sellar region can account for the bilateral III and V nerve affection as well as for the visual defects and the fund us conditions which can be a late manifestation of Foster-Kennedy syndrome. The eighth nerve lesion may be due to an acoustic neuroma on the left side which is frequently observed in multiple neurofibromatosis, whereas the XIIth nerve involvement may be a separate tumour in that region. Fundus appearance is a late picture of Foster-Kennedy Syndrome.
| Summary|| |
A case of Von Recklinghausen's disease with multiple asymmetrical cranial nerve involvement has been presented. There was bilateral involvement of the III and V nerves and of the VIII nerve on the left side and XII nerve on the right side. Fundus of the right eye showed primary optic atrophy while in the left eye the optic atrophy was secondary to pailloedema. The multiple cranial nerve involvements have been explained on the basis of multiple isolated intracranial tumours.
Detailed clinical report, histopathology of skin tumour and radiological findings have been presented.
| References|| |
Martin P. and Cushing H. W. (19231 Arch. of Ophthal. 52, 209.
Shapland C. D. and Greenfield J. G. (1935) Trans. Ophth. Soc. U.K. 55, 257.
Walsh F. B. (1957) Clinical Neuro-Ophthalmology. The Williams & Wilkins Co. Baltimore.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]