|Year : 1991 | Volume
| Issue : 2 | Page : 68-69
Self-inflicted corneal injuries in a child with congenital sensory neuropathy (A case report)
CH Gaonker1, AK Mukherjee1, SY Gawns2
1 Department of Ophthalmology, Goad Medical College, Panaji, Goa 403 001, India
2 Department of Pediatrics, Goad Medical College, Panaji, Goa-403 001, India
C H Gaonker
1133. Kindle. Canacona, Goa - 403 702
Source of Support: None, Conflict of Interest: None
An interesting clinical, report of a rare case of bilateral congenital corneal anaesthesia associated with Congenital Sensory Neuropathy (CSN) in a 11sub/2 year old child with corneal ulceration secondary to self-inflicted trauma is reported.
Keywords: Congenital Sensory Neuropathy (CSN)
|How to cite this article:|
Gaonker C H, Mukherjee A K, Gawns S Y. Self-inflicted corneal injuries in a child with congenital sensory neuropathy (A case report). Indian J Ophthalmol 1991;39:68-9
|How to cite this URL:|
Gaonker C H, Mukherjee A K, Gawns S Y. Self-inflicted corneal injuries in a child with congenital sensory neuropathy (A case report). Indian J Ophthalmol [serial online] 1991 [cited 2020 Jul 14];39:68-9. Available from: http://www.ijo.in/text.asp?1991/39/2/68/24465
| Introduction|| |
Self-inflicted eye injuries are a recognised ophthalmic problem in adults with psychological disorders ,;drug addicts  and servicemen wishing to avoid military duty . It is also reported in blind children who rub their eyes to obtain vicarious light sensations from mechanical phosphenes . Corneal ulceration is a recognised complication of congenital corneal anaesthesia , and self-inflicted corneal abrasions have been considered as a cause of intractable corneal ulcers in infants with congenital corneal anaesthesia . We report here a case of CSN with bilateral congenital corneal anaesthesia, who came to us with corneal ulceration apparently related to self-inflicted trauma, the evidence of which was also present elsewhere on the body. The purpose of this communication is to emphasize the role of self-inflicted injuries in the formation of ulcers involving such anaesthetic corneas and, to highlight the correlation between congenital corneal anaesthesia and Congenital Sensory Neuropathy (CSN), a rare form of Hereditary Sensory Neuropathy in children. This relationship, to our knowledge has not been discussed in previous ophthalmic literature.
| Case report|| |
A 18 month old female child was observed with a corneal ulcer in the right eye and abrasion of the left cornea. Prior to this, the child had been treated symptomatically for recurrent corneal abrasions on more than two occasions. The parents complained that the child was habitually introducing her fingers in both the eyes since birth. She also had the tendency to bite her lips and fingers and bang the forehead against the wall. Detailed history did not reveal any episodes of fever, convulsions, hyper or anhidrosis, difficulties in swallowing and instability of temperature control. Antenatal history was uneventful and the child was a product of a consanguinous marriage, born with no congenital defects.
On ocular examination, there was a corneal ulcer in the inferonasal quadrant of the right eye, approximately 3mm. X 3mm. in size. with mild sions of inflammation.
This was accompanied by an abrasion involving the lower one third of the left cornea. In addition, both corneas showed few macular grade opacities. Corneal sensitivity was tested by the conventional method of moving a wisp of cotton from the limbus towards the centre of the cornea while monitoring for a blink reflex, and was found to be absent in both the eyes (photograph). An accurate and elaborate measurement of the tear secretions was not possible due to poor and inconsistent cooperation of the patient for Schirmer's test. However, an approximate assessment indicating normal tear secretion could be made. The test, done with a 5 mm. X 35 mm. filter paper showed a reading of 18 mm. in the RE and 25 mm. in the LE; the child was crying while the test was being performed in the LE. There were no other abnormal ocular findings.
General examination revealed traumatic amputation of the tip of the tongue and the central portion of the lower lip. Cicatrizing scars were evident at these sites. Both index fingers carried scars of self-mutilation. Detailed neurological and developmental assessment carried out at the paediatric clinic showed that the response to pain was uniformly absent all over the body. The temperature (hot) and touch sensations were affected to a lesser extent. Intellectual development was normal. Tendon reflexes were absent. Careful systemic examination detected no associated anomalies.
Bacterial and fungal tests and conjunctival scrapings from the eyes isolated no pathogens. Haematological and biochemical investigations including serum Vit. A. and serum uric acid were normal. Intradermal histamine test showed positive wheal and flare response. X-ray skull showed thickening of the frontal bone - a feature due to repeated trauma. X-ray chest and cranial ultrasound were within normal limits.
The corneal ulcer in the RE was treated with topical chloramphenicol and mydriatics and chloramphenicol ointment was used in the LE. Pads were applied continuously to both eyes. The child was placed in arm splints - a measure taken to prevent rubbing of the eyes. With these combined measures, the corneal ulcer healed within a few days, leaving a small opacity.
| Discussion|| |
Hereditary Sensory Neuropathy, a group of disorders representing disturbances of sensations, include different clinical entities ,. CSN, transmitted by autosomal recessive inheritance is classified under type II Hereditary Sensory Neuropathy  and is characterized by `congenital absence of pain. Some children with features of this disorder are described to have retinitis pigmentosa and the early onset of cataractsub. Corneal anaesthesia described in this report is probably a component of the universal absence of pain in CSN. Congenital corneal anaesthesia is also reported in association with Riley-Day syndrome (Familial Dysautonomia - a type II Hereditary Sensory Neuropathy) ; and congenital insensitivity (indifference) to pain , - a disorder known to coexist with Hereditary Sensory Neuropathy. The normal tear secretion and positive flare response to the intradermal histamine test in the absence of other characteristic clinical signs of autonomic dysfunction in our patient, militated against the diagnosis of Riley-Day syndrome.
Cases of isolated congenital anaesthesia have been reported , They may also be associated with obvious maldevelopment of the face and skull in Goldenhar syndrome .Functional corneal anaesthesia is reported to occur in keratitis artefacta. Severe and generalized self-mutilation in children has been described in LeschNyhan syndrome characterized by convulsions in more than 50% of patients and elevated serum uric acid levels . Moreover, the presence of congenital corneal anaesthesia is not a feature of self-mutilation associated with Lesch-Nyhan syndrome, the Cornelia de Lange syndrome, and the Gilles de la Tourtte syndrome .
Irrespective of the theoretical considerations, the selfinflicted corneal abrasions have been accepted as the presenting feature of corneal anaesthesia . Our patient was certainly putting the fingers in her eyes and scratching the eyelids. Both eyes had multiple minor corneal opacities. Furthermore, the observation that the application of arm splints enhances rapid healing of the corneal ulcers , confirms the role of self-inflicted injuries in the causation of intractable ulcerations of the cornea. It is also apparent that the absence of pain was a protective measure against injury which resulted in the mutilation of fingers, lower lip and the tongue secondary to self-inflicted trauma, forming the presenting feature of CSN.
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