|Year : 1991 | Volume
| Issue : 1 | Page : 31-32
Neurofibromatosis irides with flat vertebra-A case report
Sandeep Saxena, RC Saxena
Department of Ophthalmology, King George's Medical College, Lucknow-226 018, India
Department of Ophthalmology, King George's Medical College, Lucknow-226 018
Source of Support: None, Conflict of Interest: None
Bilateral multiple iris nodules with thickened corneal nerves and flat fifth thoracic vertebra is being reported.
|How to cite this article:|
Saxena S, Saxena R C. Neurofibromatosis irides with flat vertebra-A case report. Indian J Ophthalmol 1991;39:31-2
| Introduction|| |
Neurofibromatosis, a congenital hereditary disorder, was first described comprehensively by von Recklinghausen  in 1882. The eye and its adenexa may be involved but uveal involvement is relatively rare, generally affecting the choroid and the ciliary body. The iris however is usually unaffected . Incidence of skeletal involvement is variously reported to range from 30% to 50% , .In the present case bilateral multiple iris nodules and a flat vertebra were observed. The rarity of this presentation prompted this case report.
| Case report|| |
M.K., a 10 year old male child was admitted in the Paediatric Orthopaedics ward of our institution on 30/9/89 with the complaint of pain in the neck for 10 days.
On general examination multiple cafe au lait spots were seen on the skin of the trunk. No sensory or motor loss was detected. He was referred to us regarding involvement of the eye or its adenexa. On examination his visual acuity in both eyes was 6/9. Slit lamp examination revealed bilateral thickened corneal nerves and multiple, pin head size, lightly pigmented nodules on the iris [Figure - 1][Figure - 2](His fundi and orbit were within normal limits. His I.O- was normal and no other associated signs of the disease were seen.
X-ray spine revealed a flat fifth thoracic vertebra [Figure - 3].
| Discussion|| |
In the present case Cafe au lait spots and the ocular involvement of Neurofibromatosis were accidental findings. The ocular involvement in the form of thickened corneal nerves has been reported by Knox, Payne and Hartmann  in 1969 and on the other hand multiple iris nodules have been reported first by Sakurai  in 1935 and later by Lisch  in 1937. There has been no report of such iris nodules from our country.
Further the associated finding of a flat fifth thoracic vertebra, resembling vertebra plana  first described by Calve in 1924, makes this case more interesting because this patient had no neurological symptoms or signs related to this particular vertebral anomaly. This fact makes us presume that this too is a congenital anomaly.
The literature does not show any association of flat vertebra with Neurofibromatosis, especially in cases where such iris nodules or spots are present. In this paper the authors wish to present this association for the first time with the belief that flat vertebra may also be one of the skeletal involvement related to Neurofibromatosis.
| References|| |
Von Recklinghausen F.D. : Festschrift fur Rudolf Virchow, Berlin, August Hirschwald. 1882.
Duke - Elder S, System of Ophthalmology Vol. IX, Henry Kimpton London. 823,1966.
Holt J. F., Wright E. M.: Radiology 51:647. 1948.
HuntJ.C., Pugh D.G.: Radiology, 76:1, 1961.
Knox D.L., Payne J.W., Hartmann W.N., Proc. 2nd International Congress of Neuro-genetics,and Neuro-ophthalmology, Vol.2 Excerpta Medica, Amsterdam, 1969.
Sakurai : Acta Soc Ophthal Jap, 39 : 87, 1935.
Lisch A.: Z Augenheilkd, 93:137,1937.
Turek S.L.: Orthopaedic principles and their application, Vol. 2, J.B.Lippincott Co., Philadelphia, 1595-1596,1984.
[Figure - 1], [Figure - 2], [Figure - 3]