title: Nocturnal lagophthalmos in children with urofacial syndrome (Ochoa): a novel sign.
abstract: The urofacial syndrome is a rare condition that occurs in both genders and characterized by uropathy and facial abnormalities. Early diagnosis is crucial for the management and prognosis of urinary problems. Paradoxical inversion of facial musculature when smiling, giving an appearance of crying associated with severe urinary tract dysfunction is typical in these patients. Although facial signs and symptoms are generally ignored and shadowed by the dominant bladder symptoms, we have recently realized a unique but constant finding in majority of these patients, nocturnal lagophthalmos which is described as inability to close the eyelids during sleep. We report 15 patients with urofacial syndrome (Ochoa) whom mostly had admitted with major urological symptoms and 12 of the cases had nocturnal lagophthalmos. Lagophthalmos may lead to keratitis, corneal abrasion, infection, vascularization, and in extreme cases, ocular perforation, endophthalmitis and loss of the eye. Basic modalities like lubricant drops during the day and ointments at night are usually enough to protect the cornea from exposure keratopathy. In moderate to severe cases, overnight taping of the lid or the use of a moisture chamber might be necessary. Majority of our patients responded to basic therapy. Conclusion Nocturnal lagophthalmos is a novel symptom described in patients with urofacial syndrome. The pediatricians and urologists should be careful about this symptom to prevent eye damage and quality of life problems.
authors.affiliation: Department of Urology, University of Ankara, Ankara, Turkey, muratmer@gmail.com.
authors.forename: Murat
authors.initials: M
authors.lastname: Mermerkaya
authors.forename: Evren
authors.initials: E
authors.lastname: Süer
authors.forename: Erdem
authors.initials: E
authors.lastname: Öztürk
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Gülpınar
authors.forename: Mehmet İlker
authors.initials: Mİ
authors.lastname: Gökçe
authors.forename: Fatime Nilüfer
authors.initials: FN
authors.lastname: Yalçındağ
authors.forename: Tarkan
authors.initials: T
authors.lastname: Soygür
authors.forename: Berk
authors.initials: B
authors.lastname: Burgu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005141:Eyelid Diseases / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D019066:Facies; D005260:Female; D006801:Humans; D008297:Male; D014570:Urologic Diseases / Q000150:complications* / Q000235:genetics