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ARTICLE
Year : 1966  |  Volume : 14  |  Issue : 3  |  Page : 131-134

Von Recklinghausen's disease- an unusual case


Department of Ophthalmology, King George's Medical College, Lucknow, India

Date of Web Publication16-Jan-2008

Correspondence Address:
S P Gupta
Department of Ophthalmology, King George's Medical College, Lucknow
India
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Source of Support: None, Conflict of Interest: None


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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 Top


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 Top


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 Top


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 Top


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 Top


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.[3]

 
  References Top

1.
Martin P. and Cushing H. W. (19231 Arch. of Ophthal. 52, 209.  Back to cited text no. 1
    
2.
Shapland C. D. and Greenfield J. G. (1935) Trans. Ophth. Soc. U.K. 55, 257.  Back to cited text no. 2
    
3.
Walsh F. B. (1957) Clinical Neuro­-Ophthalmology. The Williams & Wil­kins Co. Baltimore.  Back to cited text no. 3
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8]



 

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