|Year : 1965 | Volume
| Issue : 1 | Page : 35-37
BN Counsul, OP Kulshrestra, SK Narang
Department of Ophthalmology, Swami Mansingh Medical College & Hospital, Jaipur, India
|Date of Web Publication||21-Feb-2008|
B N Counsul
Department of Ophthalmology, Swami Mansingh Medical College & Hospital, Jaipur
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Counsul B N, Kulshrestra O P, Narang S K. Tuberous sclerosis. Indian J Ophthalmol 1965;13:35-7
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|| |
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|| |
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.
| Summary|| |
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|| |
Berg, H. (1913) Ztschr.f.d. ges. Neurol & Psychat., 19: 528-539, cited by Pagenstecher in 3.
Pagenstecher W.J. (1955) Amer. J. Ophthal 39: 663-675.
Pringle J. J. (1890) Brit. J. Dermatol. 2: 1-14.
Van der Hoeve J. (1921) Arch. of Ophthal. 105,
880-889, cited by Pagenstecher in 3.
Walsh F.B. (1957) Clinical Neuro-ophthalmology 2nd edition. The Williams and Wilkins Company. Baltimore.
[Figure - 1], [Figure - 2], [Figure - 3]