A Rare Galactosemia Complication: Vitreous Hemorrhage
JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2, vol.5, pp.89-93, 2012 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 5
- Publication Date: 2012
- Doi Number: 10.1007/8904_2011_103
- Journal Name: JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
- Page Numbers: pp.89-93
- Open Archive Collection: AVESIS Open Access Collection
- Hacettepe University Affiliated: Yes
Abstract
Galactosemia is a secondary glycosylation disorder characterized by galactose deficiency of glycoproteins and glycolipids. Abnormal glycosylation of coagulation factors and evidence of liver disease are associated with coagulopathy in galactosemic infants. We report a case of a neonate with galactosemia presenting with bilateral vitreous hemorrhage (VH). During the follow-up, hemorrhage in the right eye resolved; however, it persisted in the left eye. Vitrectomy was planned for the left eye. In addition to cataract, VH is another ophthalmic finding in galactosemia with serious sequelae such as amblyopia. Serious complications of coagulopathy in galactosemic infants can be prevented with early diagnosis and prompt treatment. Inclusion of galactosemia in the neonatal screening program offers an opportunity to prevent early severe symptoms.