|Year : 1959 | Volume
| Issue : 4 | Page : 89-91
Eye Hospital, Sitapur, India
|Date of Web Publication||7-May-2008|
J M Pahwa
Eye Hospital, Sitapur
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Pahwa J M. Gargoylism. Indian J Ophthalmol 1959;7:89-91
Gargoylism is a relatively uncommon disease. Nearly 150 cases have been reported in the literature. In 1916-17 Hunter reported cases showing peculiar skeletal and other deformities but two years later Hurler (1919) described in two brothers a similar syndrome which often bears her name. Ellis and Sheldon (1936) first gave to this group of cases with chondro-dystrophy, hepato-splenomegaly, corneal opacity and mental dullness, the term Gargoylism, on account of their large head, grotesque inhuman faces and deformed limbs which suggest the appearance of a gargoyle and render the patients closely similar to one another. A gargoyle is a grotesque spout with human or animal head and mouth, projecting from the roofgutter of a building to carry water clear of wall.
The disease is not present at birth. Only by the end of 2 years does the disease become manifest. It is therefore developmental but not congenital. It is probably metabolic in origin though the chemical nature of the stored substances in various organs and tissues is not completely identified but seems to be related to a lipoid substance. Washington (1945) coined the term lipo-chondro-dystrophy on the same belief. Within the last few years several authors have expressed doubt about the disease being lipoidosis because of the failure to demonstrate the lipoid nature of the deposit by staining methods or chemical analysis.
Lindsay et al (1948) suggested the deposit to be a poly-saccharide presumably glycogen which at times may be combined with protein to form glyco-protein. Handerson (1952) on a quantitative analysis of lipoid and glycogen from the liver and the spleen, showed the values within normal limits. Dawson (1954) showed that the infiltrating substance within the neurones differs in certain of its properties train that in other structures, possibly being a relatively insoluble poly-saccharidc phospholipoid complex in the former and freely diffusible muco-poly-saccharidc in the latter.
Initially Gargoylism was considered to have four typical features namely skeletal deformity, mental deficiency, clouding of cornea and hepato-splenomegaly. Hut one or more of these features may be absent (De langc et al 1944) In a typical case, one finds a large and deformed head with widely spaced eyes, saddle shaped nose, wide nostrils, a large mouth with thick lips and tongue, widely spaced teeth, a high palate and low et, large cars. In addition then is a short neck, a deformed thorax, a prominent abdomen frequently presenting an umbilical hernia, lumbar kyphosis, and limitation of joint movements. Occasionally there is hyper-trichosis, optic atrophy and deafness. Roentgenograms may reveal osteo-chondro-dystrophic changes, a slowing and irregularity of cartilage growth and disorders of enchondral ossification.
In certain organs, primarily the liver and spleen, are found vacuolated cells with deposits of substances which are not too well identified. There is also a generalised degeneration of ganglion cells resembling that of juvenile amaurotic idiocy.
From an ocular point of view in 75% of cases, there is found a bilateral corneal opacity. There is a diffuse, milky rather uniform cloudiness. with no signs of irritation or vascularization. The parenchymatous layers present opacities which are in the form of small whitish grey spots some times seen as dots or flakes or rarely disposed in filaments with normal epithelium and endothelium. Berliner (1939) who was able to examine a child of 7 months with the slit-lamp observed that the opacities begin in the central part of the cornea, the periphery at that time still remaining clear. The visual acuity is, usually markedly diminished, but corneal sensitivity is normal. In one case these opacities appeared quite late in middle age.
The familial occurrence and the consanguinity often found in these cases speak for a recessive factor with a sublethal character and polvphenous effect. A sex linked form devoid of corneal opacities may perhaps exist. -Sorsby (1951).
It has to be differentiated from Morquio's disease which shows a similar type of skeletal deformities but there is absence of mental retardation and corneal changes. Patients affected by a congenital absence of thyroid gland may present a clinical aspect which sometimes resembles gargoylism or Hurler's disease. Occasionally congenital syphilis in which bone and auditory disturbances together with diffuse bilateral interstitial Keratitis may have to be ruled out.
Sometimes it is difficult to distinguish gargoylism from Pleonostcosis described by- Leri, (1922) especially when the corneal opacity is found in the latter, but here periosteal ossification is more marked and is responsible for the extraordinary thickness of the bone. Moreover, this condition produces a disproportioned dwarfism, with mongoloid facies.
An intermediate form between gargoylism juvenile amaurotic idocy has been described by Jervis (1950) and an atypical form of gargoylism combined with xanthomatosis (familial dermo-chondro-corneal dystrophy) by Francois (1949)) in a sibship.
It is not good. Patients usually die before the age of 20 years because of cardiac failure.
No treatment is effective till now. Various authors have used Thyroid extract, Vitamin E, glutamic acid etc., but the results have been disappointing.
| Case Report|| |
Kamlawati 2 years Hindu female child [Figure 1] was brought to the outpatient department on 8-3-58 for treatment of her eyes and if possible for her dwarfism etc. On enquiry the father said that he noticed gradual enlargement of her head and stunted growth with crooked bones since the age of 1 ½ years, but delay in both physical and mental growth became more noticeable as the child grew older.
The parents of the child were healthy. The mother had 19 issues and out of these 17 died. The first one was a girl and is healthy and living (aged 30 years). Our patient is the sixteenth issue who has this disease. The 17 children, who died, died between the ages of a few months to one year, because of marasmus, smallpox or persistent diarrhoea. No early treatment was sought as the parents did not expect the child to survive much longer. There was no history of miscarriage and all the issues were full term normal deliveries.
The child appeared dwarfed with a height of 35 only. She had some kyphosis and deformed limbs. [Figure 2]. The head was somewhat enlarged and the face had a grotesque appearance with thick supra-orbital ridges, coarse eye brows, depressed bridge of nose, wide anteriorly turned nostrils. The lips and tongue were thick but teeth appeared to be regular. The neck was short and chest showed pigeon-shaped deformity.
The abdomen was bulging with umbilical hernia [Figure 3]. The liver and spleen were enlarged nearly 1 ½ below the costal margins but regular harm and not tender. The patient could stand and walk about but there was great difficulty in standing from sitting position. Mental retardation and defective hearing were present. The voice was hoarse. Both cornea were hazy with vision R.H. 4/60, L.E. 5/60 which could not he improved with glasses.
There was no redness of the eye or vascularization of the cornea. On slit lamp examination it was found that there were small fine whitish grey spots infiltrating the parenchymatous layers of the cornea more in the centre as compared with the periphery. The epithelium and endothelium were intact. [Figure 5].
Fundus could be seen hazily and no abnormality was found.
| Laboratory Examinations|| |
Differential and total WBC were almost normal. The Wassermann reaction was negative with a normal erythrocyte sedimentation rate.
Blood cholestrol was done and it was 135mgm per 100 cc and calcium was 10.5 mgm per l00 cc. X-ray of the skull did not show any unusual features.
Patient is on vitamin E and collosal iodine. We have advised for partial perforating keratoplasty if vision further deteriorates.
| Summary|| |
A typical case of gargoylism with corneal changes is being described because of its uncommonness. Important literature about this disease is reviewed. Its probable etiology and differential diagnosis in brief are discussed
| References|| |
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