Progeria: an extremely unusual disorder.

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 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.

A Rare Case of Caudal Regression Syndrome in a Foetus of Non-Diabetic Mother: A Case Report.

BACKGOUND: Caudal regression syndrome (CRS) is an uncommon disorder in which there is abnormal development of the caudal end of the foetal spine along with many associated anomalies. Manifestations of this syndrome can vary from the absence of a few terminal coccygeal segments to complete lumbosacral agenesis. Its overall incidence is 1 in 60000 live births. It is more commonly seen in infants of diabetic mothers, with a 200-fold increased risk as compared to the general population. CASE REPORT: We present a case of CRS in a foetus of a non-diabetic mother and discuss the role of radiology in early diagnosis and timely management. We also correlate initial abnormalities of the nervous system found on imaging with postnatal clinical deficits. CONCLUSIONS: This case highlights the rarity caudal regression syndrome in a foetus of a non-diabetic mother. Early diagnosis of CRS is important for appropriate management.