[Vitreous hemorrhage in a neonate with galactosemia. A case report].
Galactosemia is an inherited metabolic disorder due to a defect in one of the three enzymes required to fully metabolize the galactose in glucose: the galactose 1-phosphate uridyltransferase. Because this enzyme is present in the normal foetal liver since the tenth week of gestation, its defect cause congenital abnormality due to galactose accumulation, when the mother had taken milk during the pregnancy. It is mainly a liver pathology whereas the foetal cataract is rare. This latter is usually considered as the sole ophthalmic consequence of this disorder but exceptional ocular haemorrhages have also been described. We report the case of a neonate with galactosemia free from foetal cataract but presenting an unilateral vitreous haemorrhage. Retinal anomalies seen after vitrectomy are probably the source of the vitreous blood favoured by the coagulopathy associated with the neonatal disease. The causes of infant vitreous haemorrhages are often debated and their complications, especially severe amblyopia, require vitrectomy within the month following their discovery. In galactosemia, vitreous haemorrhage can be prevented by an early diagnosis and an appropriate treatment of the liver pathology.
Hôpital Huriez, Centre Hospitalier Régional Universitaire de Lille, Lille. elsalois@numericable.fr
E
E
Laumonier
P
P
Labalette
C
C
Morisot
F
F
Mouriaux
D
D
Dobbelaere
J F
JF
Rouland
D005693:Galactosemias / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000196:embryology / Q000201:enzymology; D008297:Male; D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase / Q000172:deficiency; D014821:Vitrectomy; D014823:Vitreous Hemorrhage / Q000209:etiology* / Q000601:surgery
D006599:UDPglucose-Hexose-1-Phosphate Uridylyltransferase