Progeria in an Infant : A Case Report

Abstract

INTRODUCTION: Progeria is a rare, fatal, progressive genetic disorder characterized by pre mature ageing due   to mutation of gene LMNA. It occurs sporadically with  incidence of 1 in 8 million births. Very few cases have  been reported worldwide. We hereby report a case of progeria. CASE REPORT: 10 month old male infant born out of non consanguineous marriage presented with progressive loosening of skin since birth. Peri-natal period was uneventful and achieved all the milestones. Differential diagnosis of cutis laxa and progeria was considered on the basis of clinical features. Histopathology and special stains showed increased collagen in the dermis. Along with the clinical correlation, a diagnosis of progeria was achieved. DISCUSSION: Progeria is a rare genetic disorder characterized by premature ageing which is accelerated up to 7 times of that of normal. It results from mutation of LMNA gene which encodes lamin A protein, which holds the nucleus of the cells together. Child is usually normal at birth and at 18-24 months, presents with                           progressive loosening of skin, alopecia, prominent scalp veins and eyes along with sclerodermatous changes in the                       face. As the child ages, skeletal and cardiovascular                       abnormalities develop. The average life span is 13 years. CONCLUSION: So far to our knowledge only 2 cases                    worldwide has been reported with progeria under the age of         1 year. Hence our 10month old case of progeria is a rarity.