Home About us Editorial board Ahead of print Current issue Search Archives Submit article Instructions Subscribe Contacts Login 
  • Users Online: 3099
  • Home
  • Print this page
  • Email this page

   Table of Contents      
ARTICLE
Year : 1959  |  Volume : 7  |  Issue : 4  |  Page : 89-91

Gargoylism


Eye Hospital, Sitapur, India

Date of Web Publication7-May-2008

Correspondence Address:
J M Pahwa
Eye Hospital, Sitapur
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


Rights and PermissionsRights and Permissions

How to cite this article:
Pahwa J M. Gargoylism. Indian J Ophthalmol 1959;7:89-91

How to cite this URL:
Pahwa J M. Gargoylism. Indian J Ophthalmol [serial online] 1959 [cited 2020 Jul 5];7:89-91. Available from: http://www.ijo.in/text.asp?1959/7/4/89/40695

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.

Heredity

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).

Differential Diagnosis

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.

Prognosis

It is not good. Patients usually die before the age of 20 years because of cardiac failure.

Treatment

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 Top


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.

Examination

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 Top


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.

Treatment

Patient is on vitamin E and collosal iodine. We have advised for partial perforating keratoplasty if vision further deteriorates.[17]


  Summary Top


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 Top

1.
Berliner, (1939) A.M.A. Arch of Ophth. 22, 97.  Back to cited text no. 1
    
2.
Bocker, E., (1939) Zeits. Kinder Heilk, 63,688.  Back to cited text no. 2
    
3.
Conies F. & Hogan .11. J.. (1942) A.M.A. Arch. of Ophth. 27,637.  Back to cited text no. 3
    
4.
Dawwson I.M.P., (1051) . 1 Path & Bact. 76,518.  Back to cited text no. 4
    
5.
Ellis R. AV. B., Sheldon 1Vate. (1936) Quart. J. Med. 5,119.  Back to cited text no. 5
    
6.
Francischetti A., and Forni S., (1950) Acta 16th. Int. Cong. Oph. Lond.,pages 157-283.  Back to cited text no. 6
    
7.
Francois J., (1940) Bull: Acad: Roy: Med.: Belg. 14, 135.  Back to cited text no. 7
    
8.
Handersdon MI, Ilolden R. and Thannhauser S. J., (1952) Arch. Dis. Child. 27, 230.  Back to cited text no. 8
    
9.
Hunter C., (1916) Proc. Roy. Soc. Med. Sect. Dis-Child 17,10,104  Back to cited text no. 9
    
10.
Hurler G., (191o) Ztschr. f. Kinderp.,24, 220.  Back to cited text no. 10
    
11.
Jervis G. A., (1950) Arch. Neurol. and Psychiat, 63, 681.  Back to cited text no. 11
    
12.
De Iange C., De Kleyn A. and Lettinga T. W., (1944) Acta paediat, 31, 398.  Back to cited text no. 12
    
13.
Leri A., ( 1922) Presse med., 2, 13 quoted by Francesschett and Forni. in 6.  Back to cited text no. 13
    
14.
Lindsays Reilly \V. A., Gotham T. J. and Sahen A., (1948) Amer. J. Dis of Child 76, 239.  Back to cited text no. 14
    
15.
Sorsby Arnold, (1951) Systemic Ophthal­mology p. 77 Buttenworth & Co. London.  Back to cited text no. 15
    
16.
Sorsby Arnold, (1951) Genetics in Oph­thalmology. P. 201-202. Butterworth & Co. London.  Back to cited text no. 16
    
17.
Washington J. A., (1945) In Brenne­man's Practice of Paediatrics Vol. 4, Chapter 30. W. F. Prior Company Inc. Hagerstown, Md.  Back to cited text no. 17
    




 

Top
 
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

 
  In this article
Case Report
Laboratory Exami...
Summary
References

 Article Access Statistics
    Viewed1487    
    Printed38    
    Emailed0    
    PDF Downloaded0    
    Comments [Add]    

Recommend this journal