Classic Galactosemia Presenting with Unilateral Peters Anomaly

Objective: To report a case of classic galactosemia that presented with a rare ocular finding, Peters’ anomaly. Clinical Presentation and Intervention: A neonate, born to firstdegree healthy cousins, presented with persistent vomiting, failure to thrive, lethargy, and jaundice. Corneal opacity was noticed in the left eye. Hydration and empiric antibiotics were started after collection of the required blood work, which included both a septic and a metabolic workup. A deficiency in erythrocyte galactose-1-phosphate uridyltransferase was found, and this led to the diagnosis of classic galactosemia and the elimination of galactose from the diet. Furthermore, a diagnosis of left unilateral Peters’ anomaly was made after examination by a pediatric ophthalmologist. The patient was discharged in stable condition and followup visits were scheduled with the metabolic clinic, a dietician, and the pediatric ophthalmologist. Conclusion: This was a case of classic galactosemia presenting with Peters’ anomaly, probably due to autosomal recessive disorder from first-degree consanguinity marriage. Copyright © 2010 S. Karger AG, Basel Received: May 11, 2009 Revised: August 30, 2009 Hadeel Faras, MD, FAAP, FRCPC Department of Pediatrics, Al-Sabah Hospital PO Box 4078 1304 Kuwait City (Kuwait) Tel. +965 248 12634, Fax +965 248 14977, E-Mail hyfaras @ yahoo.com © 2010 S. Karger AG, Basel 1011–7571/10/0194–0324$26.00/0 Accessible online at: www.karger.com/mpp D ow nl oa de d by : 54 .7 0. 40 .1 1 10 /6 /2 01 7 4: 23 :4 9 A M