A Rare Galactosemia Complication: Vitreous Hemorrhage

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Takci S., KADAYIFÇILAR S., COŞKUN T., YİĞİT Ş., ÖZTÜRK HİŞMİ B.

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2, cilt.5, ss.89-93, 2012 (SCI-Expanded) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 5
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1007/8904_2011_103
  • Dergi Adı: JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/2
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Directory of Open Access Journals
  • Sayfa Sayıları: ss.89-93
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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.