Publication:

Hutchinson–Gilford progeria syndrome in a 2-year-11-month-old female child: a clinico-genetic case report from Assam, India

Hutchinson–Gilford Progeria Syndrome (HGPS) is a rare genetic disorder characterized by premature aging beginning in early infancy. It is caused by de novo pathogenic variants in the LMNA gene. We report a case of a 2-year-11-month-old female child from Nagaon district of Assam who presented with failure to thrive and progressive craniofacial and somatic changes. Clinical features were classical for Progeria, with preserved cognitive and social development. Whole Exome Sequencing confirmed a pathogenic heterozygous variant in exon 11 of the LMNA gene, consistent with Hutchinson–Gilford Progeria Syndrome. This report highlights early clinical recognition, genetic confirmation, and the psychosocial impact on caregivers, emphasizing the role of counseling and multidisciplinary care.