alexa A rare galactosemia complication: vitreous hemorrhage.
Pediatrics

Pediatrics

Pediatrics & Therapeutics

Author(s): Takci S, Kadayifcilar S, Coskun T, Yigit S, Hismi B

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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.
This article was published in JIMD Rep and referenced in Pediatrics & Therapeutics

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