【摘要】 后天性角膜溃疡，在新生儿并不常见。1例婴儿患有Goldenhar综合征(眼耳椎骨发育异常综合征)，合并左上睑巨大的中央缺损，在新生儿期发展为角膜溃疡。本例通过改良的卡特勒比尔德(CutlerBeard)手术进行处理，该手术是在保守治疗未能治愈角膜溃疡后施行的急诊手术。
【关键词】 Goldenhar综合征 上睑缺损 角膜溃疡 改良CutlerBeard手术
INTRODUCTION
Goldenhar syndrome, GoldenharGorlin syndrome or oculoauriculovertebral (OAV) syndrome is a variant of the first branchial arch syndrome characterized by auricular, vertebral and facial clefts. The clinical features include microtia, hemifacial microsomia, epibulbar dermoids, preauricular fistulas and appendages, cleft palate, micrognathia, dental anomalies and vertebral anomalies [1,2]. Systemic associations include cardiovascular anomalies, genitourinary defects, hydrocephalus and mental retardation. Vertebral anomalies commonly affect the cervical spine, including block
shaped vertebrae, hemivertebrae and occipitalization of the atlas. A case of Goldenhars syndrome in a newborn, who developed acquired corneal ulceration is reported. This is not a common occurrence and poses a management dilemma. A modified CutlerBeard procedure was carried out as an emergency procedure, and the ulcer healed completely.
CASE REPORT
A 3dayold male neonate was referred to the ophthalmology clinic for consultation of a defect in the left upper eyelid which was present at birth. On examination, he had a large coloboma in the middle of the upper eyelid (24mm in length and 4.5mm in height, which was more than half the length of the upper eyelid (Figure 1). The inferior half of the cornea was exposed on closure of the eye lids. A lipodermoid was seen near the lateral canthus. The cornea was clear with no punctate staining. The remaining anterior segment examination and funduscopy were normal. Left preauricular skin tags and nasal polyps were present (Figure 1). Examination of the right eye was normal. Echocardiography revealed the presence of a small atrial septal defect. No skeletal or genitourinary abnormalities were present. A diagnosis of Goldenhars syndrome was made.
The patients left eye was treated with hourly drops of artificial tears and antibiotic ointment every 6 hours and eyelid reconstructive surgery when the child was older. The child underwent phototherapy for neonatal jaundice for two days and was discharged home. He developed a left corneal ulcer secondary to exposure within the week and was admitted for treatment with topical antibiotic eyedrops and ointment. Emergent reconstruction of the upper eyelid was carried out two days following admission as the ulcer failed to heal. A modified CutlerBeard procedure was performed. During the first stage of the operation, a full thickness lower lid flap was fashioned and advanced superiorly to cover the defect in the upper eyelid and sutured in place.(Figure 2,3) Postoperatively, he was treated with intravenous and topical antibiotics.
The second stage of the operation was carried out one month later. This stage involved the division of the lower lid skin flap to separate the lids and formation a new upper lid. The child attained good cosmetic results following surgery (Figure 4, 5). However, he developed a macular corneal opacity in the left eye, measuring 4mm involving part of the visual axis. There is guarded prognosis for development of full visual potential as the corneal opacity was quite dense and a fullthickness corneal transplantation was advised and patient was waitlistedfor corneal surgery.
Spontaneous closure of the atrial septal defect was attained by the age of six months. At six months the review of the left eye showed acceptable cosmetic appearance with good contour to the upper eyelid; residual corneal opacity occluding the upper nasal part of the visual axis, and a small flat conjunctival lipodermoid at the lateral canthal region (Figure 6). Further treatment planned for this child was a left corneal transplantation, correction of refractive error and occlusion therapy for amblyopia.
DISCUSSION
In our patient, the features of Goldenhars syndrome were upper eyelid coloboma and lipodermoid in the left eye, left nasal and preauricular skin tags. An atrial septal defect was also detected in this newborn. Corneal ulcers had been reported in two patients with Goldenhars syndrome by Snyder et al[3], but not at such an early age. Acquired corneal ulceration in a newborn is rare. In newborn babies, underlying causes to look out for are congenital entropion [46], congenital dysautonomia, corneal anaesthesia and causes of exposure.
Ocular and adnexal abnormalities may be present in 67% of patients. Epibulbar choristomas was reported in 32%[7] of patients and eyelid colobomas may be seen in 11% of cases[8]. Eyelid coloboma commonly involves the upper lid at the junction of the inner and middle third. It may be associated with colobomas of the iris, eyelids, retina and choroid. The central coloboma of the left upper eyelid in this patient is typical but is unusually large. The conjunctival lipodermoid situated on the lateral aspect of the left eye was noted.
Other eye findings described in OAV include upper eyelid ptosis, and varying degrees of microphthalmia or even anophthalmia, visual loss, amblyopia, strabismus and significant refractive errors . Posterior segment examination may reveal tilted optic discs, optic nerve hypoplasia. Iris and/or retinal colobomas have rarely been reported [9].
Ocular complications in this condition may be caused by hypoplasia or abnormal function of the trigeminal and facial nerves. Common predisposing factors include corneal hypesthesia, keratoconjunctivitis sicca, eyelid colobomas, lacrimal gland and duct anomalies, lipodermoids and neurological deficits. A large upper lid coloboma presents a risk to the cornea from exposure. However, in the absence of other risk factors as mentioned above, and with proper ocular lubrications and protection, corneal ulceration usually will not occur.
This infant developed exposure keratitis secondary to a large, central upper lid coloboma. Contributory factors to corneal ulceration included exposure to phototherapy and presence of lipodermoid. Improper protection to the eyes during prolonged exposure to ultraviolet light in the phototherapy for neonatal jaundice may have resulted in corneal punctate keratitis that led to the formation of the corneal ulceration in this child. The presence of the lipodermoid prevented proper wetting of the corneal surface is another factor. This was made worse by the fact that tear production was still inadequate in a newborn.
Reconstructive surgery ideally should be performed to prevent corneal ulceration before this complication occurred. The presence of cardiac abnormality further increased the risk of general anesthesia in such a small infant. Thus, no immediate plans for surgical intervention was carried out.
Simpler procedure like direct appositional closure or advancement of the lateral segment of the eyelid with Tenzel
s flap was not the procedure of choice for such a large defect, which occupied more than half the entire length of the eyelid [1013]. In the presence of such a large defect a lidsharing procedure such as tarsoconjunctival flaps (Hughes) or Cutler
Beard procedure would have to be considered. The CutlerBeard procedure [14] where a fullthickness lower eyelid flap was advanced into the defect of the upper lid was carried out.
However, these fullthickness lidsharing procedures would put the infants eye at risk for deprivational amblyopia as the twostage procedure requires a period of closure of the eye from 6 to 8 weeks. Such prolonged closure of the eyelid will result in deprivational amblyopia. In this patient, the second stage was carried out at 4 weeks to shorten the period of complete occlusion of the left eye. The modification carried out in the CutlerBeard surgery for this patient included this shortened period between the first and second stage of theprocedure and the omission of the use of a graft of ear cartilage to form the posterior lamella during the surgery. The review at 6 months showed the eyelid retained acceptable contour and cosmesis (Figure 6).
Following surgical correction of the defect in the upper eyelid, keratitis healed completely, leaving a residual corneal scar. There is every possibility of this child developing visual deprivational amblyopia as the corneal opacity involved the visual axis, and the left eye was occluded for a period of 4 weeks during the surgical procedure. Occlusion therapy was immediately performed by patching of the right eye to enable the left eye to be used after the second stage of the procedure was performed. Although the corneal opacity was dense initially, the child had not developed any signs of poor vision, i.e. nystagmus or squint. This could be due to the fact that the corneal opacity is only occluding the upper nasal segment of the visual axis and the fact that occlusion therapy was performed as soon as the eye could be free of closure after division of the flap following the second stage of surgery.
This case stresses the dilemma faced in managing small infants with large coloboma of the eyelid. From this case, it can be concluded that future cases with such a large upper eyelid defect should be monitored very closely to detect the development of corneal ulceration early, especially if there is the presence of other contributory factors to corneal exposure keratopathy. Reconstructive surgery to repair the eyelid defect would still preferably be deferred. However, there is a need to weigh the risks of surgery in the presence of other systemic abnormalities in such cases as well as the risk of inducing amblyopia in such a young child, to the risk of blindness from corneal ulcer perforation and central scar formation.
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