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ARTICLE
Year : 1965  |  Volume : 13  |  Issue : 1  |  Page : 35-37

Tuberous sclerosis


Department of Ophthalmology, Swami Mansingh Medical College & Hospital, Jaipur, India

Date of Web Publication21-Feb-2008

Correspondence Address:
B N Counsul
Department of Ophthalmology, Swami Mansingh Medical College & Hospital, Jaipur
India
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Source of Support: None, Conflict of Interest: None


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How to cite this article:
Counsul B N, Kulshrestra O P, Narang S K. Tuberous sclerosis. Indian J Ophthalmol 1965;13:35-7

How to cite this URL:
Counsul B N, Kulshrestra O P, Narang S K. Tuberous sclerosis. Indian J Ophthalmol [serial online] 1965 [cited 2020 Aug 10];13:35-7. Available from: http://www.ijo.in/text.asp?1965/13/1/35/39210

The term tuberous sclerosis was given by the French neurologist Bourneville in 1880 to a rare form of multiple cerebral sclerosis occurring in young patients who had shown dur­ing life mental deficiency and epilepsy. Later he noticed growths in spleen, kidney, heart and lungs associated with this condition. There was co-existence of adenoma sebaceum with it. He called the condition "Tuberous Scle­rosis" because the multiple cerebral areas of sclerosis resembled potatoes.

Since then many clinicians have em­phasised certain features of the disease. For example Pringle (1890) described the characteristics of the skin lesion, Berg (1913) the genetic and the ocular features whereas van der Hoeve (1921) established the true nature of the re­tinal lesions as tumours originating in the nerve fibre layer and not sequelae of an inflammatory process.

Many reports on the complete and isolated features of this disease have followed from which one gathers that incomplete and atypical cases are more common than typical ones. Pagen­stecher (1955) has reviewed previously recorded cases and has reported two of his own.

The condition in its pure form is characterised by: (i) retarded mental development (ii) occurrence of epilepti­form seizures, (iii) adenoma sebaceum, (iv) and tumours in one or more organs usually the skin, brain, eye, kidneys, heart, liver or stomach. There may be a hereditary tendency in many cases.


  Case Report Top


The patient N.D. was a girl of 14 years and brought to the eye depart­ment by her mother, for poor vision since childhood. She could not be sent to the school because of imbecility and so remained without any education. She was treated by a psychiatrist for a year without any improvement.

No proper history, of epileptic fits could be elicited though the mother stated that she had one epileptic seizure some 5 years back. Such an attack did not take place again.

Family history of the patient was non contributory.

On external examination, the patient was seen to be well built and nourish­ed. Mental retardation was evident.

Over the skin of the face and fore­head there were innumerable papules of sebaceous adenoma spread out typically like the wings of a butterfly on both the sides of the face and nose [Figure - 1].

On examination of the child the vision could not be recorded as the child was too uncooperative, but she seemed to recognise her mother at quite a distance. Externally both eyes were normal. Both the pupils were of normal size and reacted briskly to light.


  Fundus Examinations Top


Right eye: The media were clear. The optic disc appeared normal. There was a yellowish-white mass half the size of the optic disc in the lower part of the fundus 3 disc diameters away from the disc margin. It had a granular ap­pearance and covered the vessels. A few white spots were seen over the central area resembling colloid bodies. The blood-vessels were normal.

Left eye: The media and the optic disc were normal. A white mass was seen on the upper and outer part of the fundus about the size of the disc, 2 disc diameters from the disc margin. It covered the superior temporal blood­ vessels and was elevated above the surface of the retina. In the periphery of this mass, near its outer border, there was another similar mass a quar­ter of the size of this area. Numerous colloid bodies were seen in the central area including the macula extend­ing up to the mid periphery of the fundus. The blood vessels were normal. [Figure - 2]

General Physical Examination did not show any abnormality. B.P. was 100/60 mm. Hg. Urine analysis and blood count were normal. ESR was 11 mm. at the end of one hour and Kahn's test was negative.

Skin biopsy from the papules of the face revealed a typical sebaceous ade­noma.

Roentgenographic examination of the skull showed the size and shape to be normal. However multiple areas of calcification were seen in the cerebral hemispheres. The sella showed a bridging. The inner and outer tables and diploe were normal [Figure - 3]. The chest was normal on screening.

No other investigation like ventricu­lography was done as the patient did not show any neurological abnormality except mental backwardness.[6]


  Summary Top


The typical features of tuberous sclerosis with mental deficiency, typi­cal skin lesions and areas of cerebral calcification is reported in a girl, 14 years old, An unusual feature in this case was the heavy degree of colloid bodies present in both fundi, especially the left one. The temporal retinal field of the left fundus including the macula showed a good deal of colloid degene­ration which was also seen to a lesser degree in the nasal quadrant.

 
  References Top

1.
Berg, H. (1913) Ztschr.f.d. ges. Neurol & Psychat., 19: 528-539, cited by Pagenstecher in 3.  Back to cited text no. 1
    
2.
Bournwille.  Back to cited text no. 2
    
3.
Pagenstecher W.J. (1955) Amer. J. Ophthal 39: 663-675.  Back to cited text no. 3
    
4.
Pringle J. J. (1890) Brit. J. Dermatol. 2: 1-14.  Back to cited text no. 4
    
5.
Van der Hoeve J. (1921) Arch. of Ophthal. 105, 880-889, cited by Pagenstecher in 3.  Back to cited text no. 5
    
6.
Walsh F.B. (1957) Clinical Neuro­-ophthalmology 2nd edition. The Williams and Wilkins Company. Baltimore.  Back to cited text no. 6
    


    Figures

  [Figure - 1], [Figure - 2], [Figure - 3]



 

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