Classic galactosemia presenting with unilateral Peters' anomaly.
Fjalë kyçe
Abstrakt
OBJECTIVE
To report a case of classic galactosemia that presented with a rare ocular finding, Peters' anomaly.
METHODS
A neonate, born to first-degree 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 follow-up visits were scheduled with the metabolic clinic, a dietician, and the pediatric ophthalmologist.
CONCLUSIONS
This was a case of classic galactosemia presenting with Peters' anomaly, probably due to autosomal recessive disorder from first-degree consanguinity marriage.
