The generalized form of UDP-galactose-4′-epimerase (GALE) deficiency causes hypotonia, failure to thrive, cataracts, and liver failure. Individuals with non-generalized forms may remain asymptomatic ...with uncertain long-term outcomes. We report a 2-year-old child compound heterozygous for GALE p.R51W/p.G237D who never developed symptoms of classic galactosemia but has a history of congenital combined mitral and tricuspid valve malformation and pyloric stenosis, and presented with pancytopenia. Variant pathogenicity was supported by predictive computational tools and decreased GALE activity measured in erythrocytes. GALE function extends to the biosynthesis of glycans by epimerization of UDP-N-acetyl-galactosamine and -glucosamine. Interrogation of the Gene Ontology consortium database revealed several putative proteins involved in normal hematopoiesis and atrioventricular valve morphogenesis, requiring N-glycosylation for adequate functionality. We hypothesize that by limiting substrate supply due to GALE deficiency, alterations in N-linked protein glycosylation can explain the patient’s phenotype.
Acute retinal necrosis (ARN) should be in the differential diagnosis of a neonate who presents with vitritis. This report includes three cases of neonatal ARN at the Bascom Palmer Eye Institute from ...2004 to 2009. Medical treatment with acyclovir helped reduce sequelae of herpes simplex virus (HSV) 2 infection. Patients with ARN are at risk for retinal detachment and blindness. Although mothers are screened during pregnancy, they are at risk of reactivation or primary contraction of HSV. A neonate presenting with vitritis should raise suspicion of ARN.
The authors report the correlation between chest physiotherapy and increased risk of vitreous hemorrhage after laser photocoagulation therapy in patients with retinopathy of prematurity (ROP). Two ...premature neonates, the first born at 26 weeks and the second at 31 weeks gestational age, both underwent chest physiotherapy, the first for congenital cystic fibrosis and bronchopulmonary dysplasia and the second for premature alveolar atelectasis. Both were diagnosed as having ROP that necessitated laser photocoagulation treatment at 34 and 37 weeks, respectively. The first patient developed bilateral vitreous hemorrhage and bilateral cataracts. The second patient developed vitreous hemorrhage in one eye. Chest physiotherapy in neonates with ROP significantly increases the risk of hemorrhage after laser photocoagulation in an otherwise fragile retinal vasculature.
The purpose of this study was to report on the incidence and treatment outcomes of endogenous endophthalmitis among newborns in the neonatal intensive care unit (NICU) of a single medical center.
...This was a noncomparative, retrospective case series of endogenous endophthalmitis among infants at the Jackson Memorial Hospital NICU treated between March 1, 2002 and March 1, 2007.
Of 4323 infants admitted to the NICU, seven eyes of six (0.139%) infants (two males, four females) were diagnosed with endophthalmitis during the study period. Four patients were born prematurely with a mean gestational age of 27.5 weeks and a mean birth weight of 1153 g. Retinopathy of prematurity was reported in two of the six patients. Mean follow-up was 3.5 years. The diagnosis was confirmed by positive cultures or polymerase chain reaction testing at a median age of 34 postnatal days. Positive cultures included Candida albicans (n = 4), Pseudomonas aeruginosa (n = 1), and Herpes simplex type 2 (n = 1). All patients received systemic treatment and five received adjunctive ophthalmic interventions, including intravitreal antibiotics in five eyes of four patients and vitrectomy with pars plana lensectomy in three eyes. One patient underwent primary enucleation and another had delayed evisceration. In the remaining five eyes, there was a normal appearing posterior segment and normal intraocular pressures at last follow-up.
Endogenous endophthalmitis is a rare complication in infants in the NICU, but may occur in patients with candidemia, bacteremia, retinopathy of prematurity, and low birth weight. Despite early and appropriate treatment, involved eyes may have poor outcomes.
The authors report the correlation between chest physiotherapy and increased risk of vitreous hemorrhage after laser photocoagulation therapy in patients with retinopathy of prematurity (ROP). Two ...premature neonates, the first born at 26 weeks and the second at 31 weeks gestational age, both underwent chest physiotherapy, the first for congenital cystic fibrosis and bronchopulmonary dysplasia and the second for premature alveolar atelectasis. Both were diagnosed as having ROP that necessitated laser photocoagulation treatment at 34 and 37 weeks, respectively. The first patient developed bilateral vitreous hemorrhage and bilateral cataracts. The second patient developed vitreous hemorrhage in one eye. Chest physiotherapy in neonates with ROP significantly increases the risk of hemorrhage after laser photocoagulation in an otherwise fragile retinal vasculature.
BACKGROUNDThe purpose of this study was to report on the incidence and treatment outcomes of endogenous endophthalmitis among newborns in the neonatal intensive care unit (NICU) of a single medical ...center. METHODSThis was a noncomparative, retrospective case series of endogenous endophthalmitis among infants at the Jackson Memorial Hospital NICU treated between March 1, 2002 and March 1, 2007. RESULTSOf 4323 infants admitted to the NICU, seven eyes of six (0.139%) infants (two males, four females) were diagnosed with endophthalmitis during the study period. Four patients were born prematurely with a mean gestational age of 27.5 weeks and a mean birth weight of 1153 g. Retinopathy of prematurity was reported in two of the six patients. Mean follow-up was 3.5 years. The diagnosis was confirmed by positive cultures or polymerase chain reaction testing at a median age of 34 postnatal days. Positive cultures included Candida albicans (n = 4), Pseudomonas aeruginosa (n = 1), and Herpes simplex type 2 (n = 1). All patients received systemic treatment and five received adjunctive ophthalmic interventions, including intravitreal antibiotics in five eyes of four patients and vitrectomy with pars plana lensectomy in three eyes. One patient underwent primary enucleation and another had delayed evisceration. In the remaining five eyes, there was a normal appearing posterior segment and normal intraocular pressures at last follow-up. CONCLUSIONEndogenous endophthalmitis is a rare complication in infants in the NICU, but may occur in patients with candidemia, bacteremia, retinopathy of prematurity, and low birth weight. Despite early and appropriate treatment, involved eyes may have poor outcomes.
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