Congenital total eversion of upper eyelids in a newborn with Down's syndrome.

Description

A six-day-old female neonate was seen with parents complaining of fleshy protrusion of the lids and inability to open both eyes since birth.

The mother was a 24-year-old-gravida 2 para 1. The full-term infant weighing 1.985 kg was born after prolonged labor of more than 20 hrs but without any instrumentation. Ocular examination revealed eversion of both upper eyelids and severe conjunctival chemosis with prolapse of forniceal conjunctiva [Figure 1]. The lid could not be repositioned to the normal position, even with pressure. Cornea was clear with brisk pupillary reactions. Pediatric assessment revealed that the child had peripheral stigmata of Down's syndrome like Single transverse palmar crease and short 5th digit with clinodactyly and joint hyperflexibility [Figures 2 and 3].

Figure 1

Six-days-old baby - Note conjunctival eversion with severe chemosis

Figure 2

Single transverse palmar crease and short 5th digit with clinodactyly

Figure 3

Joint hyperflexibility

A diagnosis of bilateral congenital eversion with Down's syndrome was made. The child was put on 5% hypertonic saline two hrly, moxifloxacin 0.5% eye drops six times a day, carboxymethyl cellulose six times a day, and Tobramycin eye ointment two times a day and padding of the eyelids with 5% hypertonic saline-soaked gauze dressing.

At 2nd week follow-up, condition improved and child could open her left eye partially with regression of prolapsed conjunctiva. In the right eye, condition persisted but was of less severity. [Figure 4]. By the end of 4th week, there was complete resolution in the left eye but incomplete resolution in the right eye [Figure 5]. At the end of 5th week, the child achieved normal eyelids with complete eye opening in both the eyes. [Figure 6]. Dilated fundoscopy with 0.5% tropicamide drops disclosed normal fundus.

Figure 4

2nd week follow-up: Partial regression of eversion

Figure 5

4th week follow-up: Complete resolution of eversion in LE

Figure 6

5th week end: Complete resolution of eversion in BE

Congenital eyelid eversion is reported to be very rare. The incidence appears higher in black infants, infants with trisomy 21, and infants born with collodion skin disease.

Several factors have been implicated in its pathophysiology including orbicularis oculi hypotonia, birth trauma, vertical shortening of anterior lamella or vertical elongation of posterior lamella of the eyelids with failure of the orbital septum to fuse with the levator aponeurosis, absence of an effective lateral canthal ligament, and lateral elongation of the eyelids.[1]

Venous stasis during delivery also caused marked chemosis and prolapse of the conjunctiva, leading to eversion of the eyelids.[2] The conjunctival chemosis protects the cornea from exposure and hence corneal complications are rare.

Congenital eyelid eversion can be treated conservatively by topical lubrication, antibiotics, and hypertonic saline[3] or surgically by lid sutures, sub-conjunctival hyaluronidase, and eye padding.[4] Our case was managed by topical antibiotics, lubricants, hypertonic saline, and padding where improvement was observed within one week and complete resolution occurred in five weeks.

Although both minor and major surgical procedures have been advocated, their efficacy must be questioned because conservative measures appear very successful as shown in this case.

To conclude, despite the alarming presentation of congenital eyelid eversion, its benign course justifies a conservative approach in anticipation of an excellent result.