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
M V Kulkarni
Department of Ophthalmology, M.P. Shah Medical College, and Irwin Hospital. Jamnagar
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
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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
The term Arthrogryposis is derived from two Greek words meaning curved joints . Arthrogryposis multiplex congenita is also known as, Amyoplasia confenita or Myodystrophia. It was first reported by Otto  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  has been mentioned as the cause. Middleton described it as failure of primitive mesoblasts to mature . An antenatal degeneration of the anterior horn cells plus the maintenance of a fixed position in utero is another theory . In the contracted limbs, some muscles are normal in appearance, others are small, still others are absent or replaced by fat and fibrous tissue .
A case of bilateral congenital cataract and two cases of convergent squint were reported by Beyer  and Friedlander  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 . The knee and elbow appear fusiform because of atrophy of muscles above and below . Mental retradation and microcephaly is seen in type `C' of Hall et al .
Prognosis measured by the ability to overcome the deformity, is found to be poor .
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.
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 . The present case is a suitable example to support his hypothesis.
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.
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