ESPE Abstracts

Introduction: Osteoporosis pseudoglioma syndrome (OPPG) is a rare autosomal recessive disease which is caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene and is characterized by severe early – onset osteoporosis and vitreoretinal complications leading to blindness by young adulthood.Case presentation: We present a case of an 8 years old boy, who was initially referred to our d...

Background: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal or auditory defects and seizures. Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital pituitary defect, characterized by a thin or absent pituitary stalk, hypoplasia of the adenohypophysis, and ectopic neuro...