|Year : 1967 | Volume
| Issue : 5 | Page : 193-196
M. G. M. Medical College & M. Y. Hospital, Indore, India
|Date of Web Publication||21-Jan-2008|
R P Dhanda
M. G. M. Medical College & M. Y. Hospital, Indore
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Dhanda R P. Marchesani's syndrome. Indian J Ophthalmol 1967;15:193-6
The condition was first described by MARCHESANI in 1939. It is rarer as compared to its analogue, Marfan's Syndrome (Dystrophia Mesodermalis Hypoplastica). In both the conditions there is disgenesis of mesoderm. In one there is hypoplasticity leading to long limbs and increase in height (Marfan's Syndrome) while in the other there is hyperplasticity leading to stumpy stature and short limbs (Marchesani's Syndrome). Etiologically, it is not definitely known whether the condition is principally mesodermal anomaly or there is ectodermal element also. Probably both play an important role in its heredity.
Marchesani's Syndrome is characterised by stumpy stature, short limbs, spade like hands and feet, brachycephalic head, enlarged thorax, well developed musculature and reduced mobility of joints. Radioscopy shows delayed carpal ossifications. The disease is associated with sphere- and micro-phakia, resultant lenticular myopia, ectopia lentis and secondary glaucoma. Rarely chorio-retinal degenerative changes may be present.
Sphero-phakia has been explained on two possible factors. It may be a developmental anomaly or a degeneration of zonule, the lens retaining its early form and never being subjected to the action of ciliary body (Duke Elder 1938). The other factor may be hyperplasia of the ciliary body resulting in lack of tension in the zonular fibres thus allowing the lens to assume its spherical form of maximal accommodation (JONES 1961). The same explains ectopia lentis if present.
Secondary glaucoma is either due to anterior dislocation of lens and is then an inverse glaucoma also called as pupilary block glaucoma where rise in tension is aggravated by miotics (PROBERT 1953). Or it may be due to narrowing of the angle of anterior chamber due to hyperplasia of ciliary body and sphero-phakia.
Two cases of Marchesani's Syndrome are reported below which in addition to the usual features, have an interesting feature of corneolenticular adhesion in their right eyes. Both cases are of developmental origin.
CASE REPORTS:- (2 sisters in the same family).
Case-1: K. B. 38 years old, married at the age of 14 years, sixth child in a family of 5 brothers and 4 sisters and youngest among sisters. All the family members are normal except the second among sisters who has identical clinical features. Menstrual cycle first started at the age of 13 years and is regular at interval of 28-30 days. She had 2 abortions and one still birth but no full term delivery.
First examined, May 1962.
Right Eye:- Normal clear cornea.
Intercalary ectasia upper half of limbus.
Lens cataractous and dumb-bell shaped dislocated forward and adherent to posterior surface of cornea.
Visual acuity hand movement with good projection.
Tension 45 mm. Hg.
Left Eye:- Keratoglobus like cornea with thinning at the intercalary region in upper half.
Anterior chamber shallow in outer 1/3.
Pupil eccentric up and in (lens seemed to be pushing forward from temporal side).
Visual acuity with correction (-11.0 DSp.). 6/36.
Tension 20 mm. Hg.
Examined again, October 1965.
Right Eye:- Features as described above and unchanged.
Left Eye:- Nearly complete anterior dislocation of transparent lens with acute secondary glaucoma. Tension 41 mm. Hg.
She was treated with miotics and acetazolamide (Diamox) by mouth 250 mg. 4 hourly. The tension did not come down. The dislocated lens was extracted intracapsular by lower limbal route because of thinning in intercalary region in upper half. Tension during surgery was controlled by intravenous Mannitol. A deep glaucomatous cupping, due to gradual rise of intra-ocular tension during the early stages of anterior sub-luxation of lens, is persisting.
T.B. aged 40 years married at the age of 13 years; 4th child in the family and second among sisters. Menstrual cycle first started at the age of 13 years and is regular at interval of 26-30 days. She had two abortions but no full term delivery.
Examined, October 1965:
Right Eye:- Enlarged, clear cornea. Intercalary ectasia upper half of limbus.
Dumb-bell shaped cataractous lens dislocated forward and adherent to posterior surface of cornea. (Plate 2)-[Figure - 2].
Visual acuity-No perception of light.
Tension 60 mm. Hg.
Left Eye : Enlarged globular cornea with central opacity.
Intercalary ectasia, upper one fourth of limbus.
Deep anterior chamber.
Dislocation of lens but only catarctous nucleus floating in anterior chamber.
Visual acuity-No perception of light.
Tension 55 mm. Hg.
| Summary of Comparative Clinical Features of the Cases|| |
Identical skeletal features of both cases: Short plumpy with thick and broad faces. Extremities are short and thick. Fingers and digits are small thick and broad. Hands and feet are spade like (Plate 1)-[Figure - 1].
Near identical skeletal measurements:[Table - 1]
Identical clinical features of Right eyes:
Moderate intercalary ectasia along upper half of limbii. Deep anterior chambers.
Lenses are cataractous, anterior poles protruding through the pupils and adherent to posterior surface of corneas. No perception of light.
Cornea: Enlarged, globular and clear normal in size
Sclera: Thinning of intercalary region in upper half.
Anterior Chamber: Shallow on temporal side.
Lens: Transparent, whole lens disclocated into the anterior chamber.
Visual acuity: Counts fingers from 3 feet.
| Discussion|| |
The glaucomatous process in these cases must have started from early childhood and this explains the enlarged globular cornea and ectasia of sclera. The etiology of the glaucoma should be narrowing of the angle of anterior chamber due to pushing forward of lens or its anterior dislocation. An additional factor may be hyperplasia of the ciliary body.
Corneo-lenticular adhesion seen in right eyes of both patients may be congenital non-separation of corea and lens or may be due to prolonged contact of anteriorly dislocated lens with posterior surface of cornea leading to irritation, inflammation and adhesion formation.
Enlarged, globular but with central opacity.
Thinning of intercalary region in upper one fourth.
Cataractous nucleus floating in anterior chamber.
No perception of light.
| Summary|| |
Two cases of Marchesani's Syndrome are presented. The cases are two sisters in a family of 5 brothers and 4 sisters. These cases have mostly identical physical and ocular features and a few dissimilar features as well. Interesting feature of corneo-lenticular adhesion in right eyes is not mentioned in literature.
| References|| |
DUKE ELDER W. S. (1964), Systems of Ophthalmology, Vol. III, part 2, pp. 1107-9.
JONES R. F. (1961), Brit. J. Ophth. 45, 377.
PROBERT (1953). Am. J. Ophth. 36, 1571.
[Figure - 1], [Figure - 2]
[Table - 1]