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ORIGINAL ARTICLE
Year : 2016  |  Volume : 109  |  Issue : 3  |  Page : 98-104

Pattern of ocular manifestations in Egyptian infants with cholestatic disorders


1 Department of Ophthalmology, Kasr Al-Ainy Medical School, Cairo University, Cairo, Egypt
2 Department of Pediatrics, Kasr Al-Ainy Medical School, Cairo University, Cairo, Egypt
3 Department of Pediatrics, National Hepatology and Tropical Medicine Research Institute, Cairo, Egypt

Correspondence Address:
Dalia H Khalil
8 Mohei El-din Abo El-Ezz Street, Dokki, Cairo 12311
Egypt
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2090-0686.202257

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Background Neonatal and infantile cholestasis can be associated with ocular findings that might aid in the diagnosis of diseases such as Alagille syndrome (AGS) and Niemann–Pick disease (NPD). Aim We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. Patients and methods This cross-sectional study included cholestatic infants presenting to the Pediatric Hepatology Unit, Pediatric Hospital, Cairo University. All infants underwent ophthalmological examinations including anterior segment examination using a hand-held slit lamp, ocular motility, cycloplegic refraction, intraocular pressure measurement, and ocular ultrasonography. Results The study included 112 infants with various cholestatic disorders of infancy. Of them, 73 (65.2%) were male. The median age was 2 months. A diagnosis was reached in 39 cases: 14 had AGS, 14 had biliary atresia, four had NPD, four had posthemolytic cholestasis, two had cytomegalovirus neonatal hepatitis, and one case had hepatorenal tyrosinemia. Thirteen cases were probably having progressive familiar intrahepatic cholestasis types 1 or 2 in view of their persistent cholestasis in the presence of normal γ-glutamyl transpeptidase level. Sixty were left with a diagnosis of ‘idiopathic neonatal hepatitis’. Ophthalmological assessment showed abnormal findings in 39 cases (34.8%). The most common finding was unilateral/bilateral optic nerve drusen in 12 cases (10.7%), followed by posterior embryotoxon in 11 (9.8%) cases. Ocular findings were observed in several cholestatic disorders, including in 64.3% of patients with AGS, 50% with NPD, 36.7% of infants with idiopathic neonatal hepatitis, and 14.3% with biliary atresia. Conclusion Ophthalmological assessment should be part of the workup for the diagnosis and assessment of cholestatic infants.


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