pediatrics
Progeria
Introduction
Progeria is a rare syndrome of accelerated aging that manifests early in childhood and causes premature death. Progeria is caused by a sporadic mutation in theLMNAgene that codes for a protein (lamin A) that provides the molecular scaffolding of cell nuclei. The defective protein leads to nuclear instability from cell division and early death of every body cell. Median age at death is 14.6 years of age; cause is typically coronary artery and cerebrovascular disease.Insulinresistance and atherosclerosis may develop. Of note is that other problems associated with normal aging (eg, increased cancer risk, degenerative arthritis) are not present. Symptoms and signs of progeria develop within 2 years of birth and include Growth failure (eg, short stature, delayed tooth eruption) Craniofacial abnormalities (eg, craniofacial disproportion, micrognathia, beaked nose, macrocephaly, large fontanelle) Physical changes of aging (eg, wrinkled skin, balding, decreased range of motion of joints, tough skin that resembles scleroderma) Diagnosis of progeria is usually obvious by appearance but must be distinguished from segmental progerias (eg, acrogeria, metageria) and other causes of growth failure. Lonafarnibis an oral medication that prevents defective progerin or progerin-like protein build-up. Small studies show it increases life span by up to 2.5 years. Support groups are available. 