The patient was the first-born male of a nonconsanguineous 21 -year-old couple. Pregnancy was complicated by oligohydramnios at six months gestation, and C-section was required at 42 weeks gestation for fetal distress. The patient had an Apgar of 3 , and required assisted ventilation and admittance to the Intensive Care Nursery. Birthweight was 2320 g (10% ile), length 50 cm (5% ile).
Neonatal exam revealed a dysmorphic facies with antimongoloid slanting of the palpebral fissures, low-set ears which appeared dysplastie with underdeveloped pinnae, micrognathia, and long thin feet with rocker bottoms.
A normal 46XY karyotype was obtained, complete biochemical analysis of blood and urine was normal, renal ultrasound and chest x-ray were unremarkable.
A CT scan of the central nervous system revealed agenesis of the corpus callosum (Figures 1 & 21. Cardiac evaluation revealed a mild ventriculo-septal defect and cardiomegaly.
Initial ophthalmic exam at age four days revealed a chemical conjunctivitis secondary to silver nitrate drops, normal appearing 'ids, clear corneas and lenses, and a normal fundus. Cycloplegic refraction was +1.00 sphere O.U., and ocular motility was normal.
At four weeks of age, a superficial central corneal ulcer was present right eye and Staphlococcus aureus was cultured. The upper eyelids appeared normal when closed, but on opening the lids, a marked entropion with trichiasis was present bilaterally. Bell's phenomenon could not be demonstrated. An intensive course of Neosporin ointment cured the ulcer, but superficial corneal erosions continued bilaterally.
At age seven weeks, the patient was taken to surgery for plastic repair (Figures 3-6). Forced duction of the upper lids revealed tight upper lids which were unable to be stretched inferiorly. The external surface of the upper lids were normally elastic.
A 5-mm ellipse of skin and orbicularis muscle was excised starting 3 mm above the upper lid margin, from the medial to the lateral ends of each upper eyelid. The skin adjacent to the excised ellipse was undermined for 3 mm ( Figures 7 & 8 ). Hemostasis was achieved with light cautery.
A 6-0 Vicryl suture was placed through the inferior skin edge, advanced superiorly on the tarsal plate with two tarsal bites, and brought out through the superior skin edge, as depicted in Figure 9. Two similar sutures were equidistantly spaced nasally and temporally, respectively. Tying the sutures nicely everted the lid margin, producing a minimal ectropion (Figure 10). The identical procedure was performed upon the opposite lid. Histopathology of the surgical specimen was reported as normal eyelid skin, with no evidence of orbicularis hypertrophy.
FIGURE 1: CT scan of brain revealing enlarged third ventricle elevated above the level of the lateral ventricles with configuration the frontal horns of the lateral ventricles typical of agenesis of corpus callosum.
FIGURE 2: Same as Figure 1 different section
FIGURE 3: Frontal view, showing absence of upper eyelid fold, bilateral corneal leukomas, and marked inturning of cilia.
FIGURE 4: Close-up O.D
FIGURE 5: Close-up O.S. Note normal lower lid.
FIGURE 6: O.D., showing severe cilia positioning against cornea.
FIGURE 7: Preoperative state, depicting excessive length of external half of upper lid, relative shortness of internal lid, and resultant entropion.
Rapid resolution of corneal haze and ulcers occurred over a two week interval (Figures 11-14). It was necessary to maintain lubricating ointments bilaterally to prevent xerotic keratitis. Schirmer tests revealed reduced tear production bilaterally.
The patient demonstrated developmental delay, and at age eight months developed focal tonic-clonic seizures, controlled with Phénobarbital. Orthopedic consultation revealed bilateral mild knee flexion contractures and bilateral calcaneal valgus feet. Repeat CT scan indicated evidence of cerebral atrophy, and EEG showed progressive deterioration.
FIGURE 8: Surgical excision of skinlorbicularis crescent to reduce external lid length.
FIGURE 9: Sutures are placed toelevate inferior skin flap on tarsus and pull down superior skin flap, creating a skin fold and evening lid margins.
FIGURE 10: Postoperative lid position, with elimination of entropion. Lid fold will form at level of skin closure.
FIGURE 11: One week post-op, showing eversión of upper lid margins, clearing of corneas, and new lid folds.
FIGURE 12: Side view O.D., showing normal cilia position.
FIGURE 13: Close-up O.D., showing upper lid fold, clear cornea, and eversión of cilia away from cornea.
FIGURE 14: Side view O.S., showing normal positioning of id margin.
Ophthalmic exam at 18 months of age revealed clear corneas, good fixing and following movements, normal optokinetic nystagmus, and orthophoria. The anterior segment and fundus exam was benign. The absence of Bell's phenomenon persisted.
At age 20 months, the patient suffered a seizure with cardiac arrest, and despite emergency resuscitation efforts, expired.
Multifarious etiologies have been proposed for congenital primary upper eyelid entropion. An abnormality of the tarsal plate has been documented in several case reports,2-4 but other case reports have described normal tarsal plates with spasm and/or hypertrophy of the marginal portion of the orbicularis muscle.3-9 Lack of an upper lid fold without ptosis has also been commonly observed.
Clinically, the pathophysiology of primary congenital upper eyelid entropion has an iatrogenic model in the secondary entropion following large levator resection, as described by Beard.10
The tightness of the forced duction test suggests that the levator muscle may be fibrotic or shorter than normal in length. In addition, the absence of an upper eyelid fold suggests the absence of tendinous fibers extending from the levator to the pretarsal skin and/or anterior portion of the tarsal plate. This would effectively subdivide the lid functionally into two distinct halves. The tight internal half would result in a traction on the lid margin. The loose external half would tend to accentuate the entropion of the margin, since the orbicularis muscle would tend to invert the margin, and the excess loose skin would gravitationally increase the net force.
As soon as the entropion is severe enough to produce trichiasis, a component of spastic entropion is likely to occur, secondary to blepharospasm, causing the pseudohypertrophy of the orbicularis muscle. If this occurs in utero, the soft fetal tarsus is likely to be deformed, producing the tarsal kink. The kink of the tarsal plate in turn seems to shorten the height of the tarsal plate.
The author's method of surgical correction of congenital entropion is similar to the procedure recommended by Beard10 for upper eyelid entropion following external levator resection.
This particular case corroborates Hiles and Wilders1 suggestion that primary congenital upper eyelid entropion is a part of a syndrome with multiple systemic anomalies. The agenesis of the corpus callosum has not been previously described. Pediatricians, geneticists, and ophthalmologists must be aware that a complete systemic evaluation is mandatory in such cases. The developmental delay and abnormal skull findings described previously suggest central nervous system abnormalities may be a part of the syndrome.
The simple surgical procedure described would probably be successful in most cases, assuming that pathophysiologic mechanism is correct.
1. Hiles DA, Wilder LW: Congenital entropion of the upper lids. J Pediatr Ophthalmol 1969; 6:157-161.
2. Bilgan AW, Buerger GF: Congenital horizontal tarsal kink. Am J Ophthalmol 1980; 89:522-524.
3. Barsky D: Congenital entropion of the upper eyelids. J Michigan State Med Soc 1963; 62:581-582.
4. Callahan A: Congenital entropion, in Callahan A (ed): Reconstructive Surgery of the Eyelids and Ocular Adnexa. Birmingham, Aesculapius Publishing Co, 1966, pp 37-40.
5. Ballen PH: A simple procedure for the relief of trichiasis and entropion of the upper lid. Arch Ophthalmol 1964; 72:239.
6. Chow KV: Entropion in the newborn and its treatment. Chin Med J 1934; 48:830.
7. Lippicott JA: Case of entropion, probably congenital, complicated with extensive ulceration of both corneae. Trans Am Ophthalmol Soc 1894; 7:225-227.
8. Fox SA: Entropion trichiasis, in Fox SA (ed): Ophthalmic Plastic Surgery. New York, Grune and Stratton, 1970, pp 414-416.
9. Firat T, Ozkan S: Bilateral congenital entropion of the upper eyelids. Brit J Ophthalmol 1973; 57:573-574.
10. Beard C: Ptosis. St Louis: CV Mosby, 1976, ? 266.