Hutchinson-Gilford progeria syndrome, also known as progeria, is an extremely rare disorder with an incidence rate of 1 in 8 million. It occurs sporadically, and patients suffering from this syndrome usually exhibit premature ageing. It has an autosomal recessive inheritance with a slight male predominance. ⋯ The most common cause of death in such patients is a cardio-vascular abnormality such as myocardial infarction. We present a rare case of progeria in an 8-year-old boy who was diagnosed clinically and was referred to our department for a skeletal survey. Almost all of the typical radiological findings were present in this case, which further confirmed the clinical diagnosis of progeria.
Gurnihal Singh Chawla, Purva Mahesh Agrawal, and Avinash Dhok.
Department of Radiology, NKPSIMS and Lata Mangeshkar Hospital, Hingana Road, Digdoh Hills, Nagpur, Maharashtra, 440019, India. gurnihal.chawla1@gmail.com.
Skeletal Radiol. 2017 Aug 1; 46 (8): 1149-1153.
AbstractHutchinson-Gilford progeria syndrome, also known as progeria, is an extremely rare disorder with an incidence rate of 1 in 8 million. It occurs sporadically, and patients suffering from this syndrome usually exhibit premature ageing. It has an autosomal recessive inheritance with a slight male predominance. The affected children usually die early with an average life span of 13.4 years. The most common cause of death in such patients is a cardio-vascular abnormality such as myocardial infarction. We present a rare case of progeria in an 8-year-old boy who was diagnosed clinically and was referred to our department for a skeletal survey. Almost all of the typical radiological findings were present in this case, which further confirmed the clinical diagnosis of progeria.