Indian Journal of Ophthalmology

ORIGINAL ARTICLE
Year
: 1988  |  Volume : 36  |  Issue : 4  |  Page : 179--181

Congenital glaucoma-An association with arthrogryposis multiplex congenita-A case report


MV Kulkarni, Mahesh Panjabi 
 Department of Ophthalmology, M.P. Shah Medical College, and Irwin Hospital. Jamnagar, India

Correspondence Address:
M V Kulkarni
Department of Ophthalmology, M.P. Shah Medical College, and Irwin Hospital. Jamnagar
India

Abstract

A case of Congenital Glaucoma with Arthrog­ryposis Multiplex Congenita is reported



How to cite this article:
Kulkarni M V, Panjabi M. Congenital glaucoma-An association with arthrogryposis multiplex congenita-A case report.Indian J Ophthalmol 1988;36:179-181


How to cite this URL:
Kulkarni M V, Panjabi M. Congenital glaucoma-An association with arthrogryposis multiplex congenita-A case report. Indian J Ophthalmol [serial online] 1988 [cited 2020 Mar 29 ];36:179-181
Available from: http://www.ijo.in/text.asp?1988/36/4/179/26116


Full Text

 Introduction



The term Arthrogryposis is derived from two Greek words meaning curved joints [1]. Arthrogryposis multiplex congenita is also known as, Amyoplasia confenita or Myodystrophia. It was first reported by Otto [2] in 1841. This uncommon syndrome is rarely associated with ophthalmic anomalies and so far congenital glaucoma has not been reported to occur with it.

Aetiologically a possibility of a congenital failure of developement of skeletal muscles resulting in deform­ing contractures of join ts [3] has been mentioned as the cause. Middleton described it as failure of primitive mesoblasts to mature [4]. An antenatal degeneration of the anterior horn cells plus the maintenance of a fixed position in utero is another theory [5]. In the contracted limbs, some muscles are normal in appear­ance, others are small, still others are absent or replaced by fat and fibrous tissue [5].

A case of bilateral congenital cataract and two cases of convergent squint were reported by Beyer [6] and Friedlander [3] respectively to occur with Arthrogryposis multiplex congenita.

Systemically the condition is characterised by involve­ment of the limbs, the trunk being usually spared. There are non-progressive contractures in flexion and/or extension, abnormal dimple like indentations and the normal flexion creases over the joints are found to be absent [7]. The knee and elbow appear fusiform because of atrophy of muscles above and below [8]. Mental retradation and microcephaly is seen in type `C' of Hall et al [9].

Prognosis measured by the ability to overcome the deformity, is found to be poor [8].

 Case Report



A 6 day old female neonate weighing 1.78 kg was brought to us by a 22 year old Mohammedan primipara mother. She complained of enlargement of the baby's eyes and discharge them with multiple limb anomalies present since birth. The mother gave no positive history of antenatal problems or intake of medications. The baby was delivered at home at full term without any complications.

On examination the baby had bacterial conjunctivitis and apparent corneal enlargement and distinctly visible deep striate opacities in the cornea of both eyes. There was a marked corneal oedema due to which details of the deeper structures could not be seen. Horizontal corneal diameter of the right eye was 12 mm and that of the left eye was 12.5 mm. Digital tension in both eyes was high and Schiotz tonometry revealed a tension of 43.4 mm of Hg in the right eye and 50.6 mm of Hg in the left eye with 10 gm weight. The sclera had a mild bluish tint in both eyes.

On systemic examination the baby showed microcep­haly with a head circumference of 26 cm. She had rigid joints in all the four extremities with practically no demonstrable active and only minimum passive movements. The shoulders were internally rotated in adduction and flexion. The elbow joints were extended and had a fusiform appearance. The forearms were fully pronated and the wrists were flexed with ulnar deviation. Both hips were flexed, abducted and exter­nally rotated. The knees were fixed in a position of flexion with fusiform appearance. The ankles had equinovarus anomaly with no flexion creases and the feet had metatarsus adbuctus anomaly. Two abnormal dimple-like indentations were seen on each buttock in the vicinity of the hip joints.

The baby was given oral acetazolamide 50mg in two divided doses and timolol maleate 0.5% drops 12 hourly and re-examined after 3 days. There was a significant lowering of intraocular tension but not upto desired levels. It was 29 mm of Hg with 5.5 gm and 28 mm of Hg with 7.5 gm in the right eye and 34.5 mm of Hg with 5.5 gm and 33 mm of Hg with 7.5 gm in the left eye. The same treatment was continued with hope of further reduction in intraocular tension Clearer corneas [Figure 4] revealed a deep anterior chamber, normal pupillary size and shape, clear lens and poorly reacting pupils. Fundus examination of the right eye revealed a surprisingly normal 0.3 cup to disc ratio in the right eye. The left eye fundus could not be seen due to a hazy cornea.

 Discussion



Arthrogryposis multiplex congenita is an example of gross systemic mesodermal maldevelopment and can have an association with congenital glaucoma. Burian and his colleagues have reported a higher percentage of angle anomalies in congenital systemic disorders of mesodermal ti ssues [10]. The present case is a suitable example to support his hypothesis.

 Acknowledgement



The help and co-operation of the following is gratefully acknowledged.

Dr. J.K. Ghodadara, M.D. Professor, Pediatric Department M.P. Shah Medical College and Irwin Hospital, Jamnagar.

References

1Lewin, Philip : Arthrogryposis multiplex congenita. J. Bone and Joint Surg., 7 : 630-638. July 1925. Quoted by Friedlander et al. J. of Bone & Joint Surg., 50-A. 89, 1968.
2Otto (1941) : Quoted by A.B. Farguson. Orthopedic Surgery in infancy and childhood. p: 438, 1958.
3Friedlander H.L. et al. : Arthrogryposis multiplex congenita: A review of 45 cases. J. of Bone Joint Surg. 50-A : 89, 1968.
4Middleton, D.S. : Studies on prenatal lesions of striated muscle as a cause of congenital deformity. Edinburg M.J. : 401, 1934. Quoted by A.B. Farguson: Orth. Surg. in infancy and childhood. p: 440, 1958.
5Adams, R.D. Denny Brown: Pearson C.M. : Diseases of muscle : A study in pathology. 2nd ed., New York. Harper & Row. 1962. Quoted by S.L. Turek. Orthopaedics principles and their application. 4th Edi., p: 715, 1984.
6Beyer, Lauscker Lavy and Bartolo : Arch. Franc. Pediat., 13, 286 (1956). Quoted by Duke-Elder, Vol. -XI, Page 206.
7H.R. Wiedemann. K.R. Grosse and Herta Dibbern : Atlas of Characteristic Syndromes. 2nd Edi. p. 302; 1985.
8Samuel Turek : Orthopedics principles and their application, 4th Edi. p: 715. 1984.
9Hall J.G., Reed S.D. et al. : Three distinct types of X-linked Arthrog­ryposis., Clin. Genet. 21 : 81, 1982.
10Burian, Von Noorden and Ponseti: Arch. Ophth. (Chicago), 64, 671 (1960) : Quoted by Duke Elder, Vol. 111, p: 558, 1964.