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TitleBilateral vitreous hemorrhage in a neonate with galactosemia: a rare complication with severe implications
PurposeTo describe ocular manifestations in a patient with galactosemia. Cataract is the main ocular complication of the disease, occurring in 30% of patients, and may resolve spontaneously upon dietary treatment. Anecdotal reports have mentioned vitreous hemorrhage (VH) as a complication in some patients.
Methodscase report
ResultsWe describe a male neonate who presented with acute liver failure at day 10, characterized by failure to thrive, jaundice, coagulopathy and encephalopathy. Blood spot testing showed absence of GALT activity, confirming the diagnosis of galactosemia. At 20 days of age, a bilateral cataract and floaters in the vitreous were noted. The cataract resolved under a galactose-free diet, but at 2.5 months of age VH were seen in both eyes. Vitrectomy and peripheral laser photocoagulation was performed in the left eye, and a month later in the right eye, with phacophagia of the left eye. Peroperative fundoscopy showed ischemia of the peripheral retina with telangiectatic vessels and crystalline depositions. There was no recurrence of the VH during postoperative follow-up.

A review of the literature confirmed – although seemingly rare – VH to be a complication of galactosemia. VH may be due to the coagulopathy and brittle vessels, noted during vitrectomy. In this patient we also noticed retinal ischemia, capillary occlusions and depositions, which may cause new vessel growth and consecutively VH. If left untreated, VH in children may lead to amblyopia and visual impairment.
ConclusionThis case emphasizes the need to be aware of VH in all galactosemia patients and for ophthalmological follow up.
Conflict of interestNo
Details of conflicting interestsauthor 1 and 2 contributed equally to this work
Authors 1
Authors 2
Last nameDe Vilder
DepartmentUZ Gent
Authors 3
Last nameVerloo
DepartmentUZ Gent
Authors 4
Last nameNerinckx
DepartmentUZ Gent
Authors 5
Last nameDelbeke
DepartmentAZ Sint-Jan
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