EPOS
European Paediatric Ophthalmological Society
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A Novel case of Hypertelorism, Hypospadias, Strabismus and bilateral Congenital Lacrimal Fistulae
Mr Michaelides Michel 1, Mr Aclimandos Wagih 21Moorfields Eye Hospital, 2King's College Hospital
A Novel case of Hypertelorism, Hypospadias, Strabismus and bilateral Congenital Lacrimal Fistulae: The hypertelorism-hypospadias syndrome is a malformation syndrome with a high incidence of cryptorchidism and abdominal wall defects in addition to hypospadias. Congenital lacrimal fistula is a rare developmental condition, estimated to occur in 1 in 2000 births. We present a novel case of hypertelorism, hypospadias, strabismus and bilateral congenital lacrimal fistulae. To the best of our knowledge this has not been previously described in the literature. This may possibly represent a new syndrome of congenital anomalies. CASE REPORT A 4-year-old boy was seen in the paediatric ophthalmology outpatients having been referred by his general practitioner. His mother was concerned about his left eye because on occasion she had noticed that it "wiggled" whilst he looked at objects. He had been born prematurely at 34 weeks gestation by normal vaginal delivery. He was also noted to have hypospadias. On examination he was noted to have somewhat peculiar facies with marked hypertelorism. He had a constant marked left exotropia and the left eye was found to be very reluctant to take up fixation. He was also noted to have bilateral lacrimal fistulae that were located inferomedially to the medial canthus. His visual acuities were 6/9 unaided in the right eye; Count fingers in the left eye. He had unilateral, left sided intermittent jerk nystagmus. He was found to have significant anisometropia and astigmatism in the left eye. Ocular media were entirely clear and dilated fundoscopy was unremarkable. A diagnosis of dense left amblyopia was made, secondary to hypertelorism, anisometropia and astigmatism. DISCUSSION In the largest published case series of congenital lacrimal fistulae, Welham et al (1992) reviewed the clinical features of 60 patients, including presenting symptoms, presence of other lacrimal or systemic anomalies and morphology of the fistula. Five of the 60 patients also had strabismus and interestingly, only five of the 60 patients had bilateral congenital lacrimal fistulae. None of the patients were described to have either hypospadias or hypertelorism. Noe et al (1984) have evaluated 21 boys in 16 families with the hypertelorism-hypospadias syndrome. It appears that this syndrome is inherited as an X-linked or autosomal dominant trait. There have been no patients previously described in the literature with hypertelorism-hypospadias syndrome who also have congenital unilateral/bilateral lacrimal fistulae. The case we report may represent a novel malformation syndrome or may be an as yet unreported variant of hypertelorism-hypospadias syndrome associated with bilateral congenital lacrimal fistulae.