Abstract Listings 2024

Purpose

A case report of a paediatric patient with Menkes disease is presented, highlighting an undocumeted feature potentially related with this syndrome: a unilateral lacrimal fistula.

Menkes disease is a rare neurodegenerative disorder characterized by abnormal copper metabolism. Ocular abnormalities seem to appear early, frequently, and with potentially serious implications. Myopia, strabismus, blue and peripheral atrophic irides, hypopigmented retina or aberrant eyelashes, among others, are documented characteristics.

Methods

This case report describes a 3-year-old male suffering Menkes disease confirmed by genetic testing that revealed a single base pair deletion in ATP7A resulting in a frameshift variant c.[3556delG];p.[Glu1186SerfX3] causing a premature termination of translation, was referred to the paediatric ophthalmology consultation to evaluate possible ophthalmological abnormalities. On examination it is evident a unilateral, permeable but asymptomatic lacrimal fistula. Lacrimal fistula is a rare anomaly associated with other genetic disorders and can produce epiphora, mucous secretion or episodes of dacryocystitis.

Results

Lacrimal fistula can be associated with Down syndrome, ectrodactyly-ectodermal-dysplasia-clefting syndrome, VACTERL association, uterus didelphys and renal agenesis, and hypertelorism and hypospadias syndrome. There are isolated published cases in CHARGE and Cornelia de Lange syndromes. Congenital lacrimal fistula are usually asymptomatic. Symptomatic cases may present with mucoid discharge from the fistula or chronic epiphora, especially if there is a concomitant nasolacrimal duct obstruction with consequent risk of dacryocystitis. Most authors recommend fistulectomy combined with dacryocystorhinostomy, ideally with previous correct lacrimal duct exploration.

Conclusion

A comprehensive ophthalmological examination is therefore important in these patients to conduct an early management. Lacrimal fistula may be a new feature associated with Menkes Disease, although further investigation is needed.

Additional Authors

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