Oliver-McFarlane syndrome (chorioretinopathy-pituitary dysfunction) with prominent early pituitary dysfunction: differentiation from choroideremia-hypopituitarism

摘要

A Caucasian male was born at 38 weeks of gestation. Antenatal ultrasound had revealed severe oligohydram-nios and intrauterine growth retardation. Birthweight was 2360 g. He was the first child born, to healthy non-consanguineous parents. His mother had two older healthy daughters from an earlier relationship.He required extracorporeal membrane oxygenation for the first 12 days of life because of severe persistent fetal circulation. During the neonatal period he had episodes of recurrent hypoglycaemia and was noted to have micropenis and bilateral undescended testes. A diagnosis of hypopituitarism with an intact hypothalamic-pituitary-adrenal axis was made and thyroid and growth hormone supplementation initiated.Gross motor development was delayed with sitting unsupported not achieved until 18 months and walking independently until 4 years but this was initially attributed to his neonatal adversity. Dentition was significantly delayed with first tooth eruption after 3 years of age.