Novel mutation in the genetic diagnosis of familial hyperinsulinaemic hypoglycaemia.

Familial hyperinsulinaemic hypoglycaemia-1 arises from mutations within the genes of pancreatic beta cells, resulting in unregulated insulin secretion from pancreatic beta cells. A 4.06 kg female neonate, born to a second-degree consanguineously married couple, presented with repeated asymptomatic hypoglycaemia.

Bilateral acute necrotizing retinitis due to cytomegalovirus infection in an infant: Challenging case report.

Purpose: To report a case of bilateral acute necrotising retinitis due to cytomegalovirus infection (CMV) in an Asian Indian infant.

Observations: An Asian Indian infant born with a birth weight of 1000 g at 26 week of gestation acquired cytomegalovirus infection from repeated blood transfusion for anemia. During the routine course of ROP screening, both eyes were detected with Type 1 ROP (stage 3 in zone 1 with plus disease) and treated with laser photoablation at 39 + 2 weeks post menstrual age.

Retinal vasculitis as an early indicator of systemic candidal abscesses in a premature infant.

We report a case of fungal retinal vasculitis in a 32 week gestational age, 1200 g premature infant detected during routine screening for retinopathy of prematurity at 78 days of age. The patient subsequently developed sepsis with perinephric abscess but responded rapidly to systemic therapy. Fortuitous detection of retinal vasculitis as the first evidence of a systemic fungal infection in an immunocompetent and asymptomatic infant has not, to our knowledge, been previously reported.

Do platelets have a role in the pathogenesis of aggressive posterior retinopathy of prematurity?

Purpose: The purpose of this study was to report the possible role of thrombocytopenia in the pathogenesis of aggressive posterior retinopathy of prematurity (APROP).

Methods: The index case described in this study showed spontaneous resolution of APROP with plus disease within 3 days of correcting thrombocytopenia and did not require laser treatment. The retrospective cohort of nine consecutive Asian Indian infants with APROP with similar stage and plus disease as the index case was studied.