Hutchinson-Gilford progeria syndrome with G608G LMNA mutation

• Published in: Journal of Korean medical science Vol. 26; no. 12; pp. 1642 - 1645
• Main Authors: Kim, Hui Kwon, Lee, Jong Yoon, Bae, Eun Ju, Oh, Phil Soo, Park, Won Il, Lee, Dong Sung, Kim, Jong-Il, Lee, Hong Jin
• Format: Journal Article
• Language: English
• Published: Korea (South) The Korean Academy of Medical Sciences 01.12.2011; 대한의학회
• Subjects: Case Report; Child, Preschool; Humans; Lamin Type A - genetics; Male; Point Mutation; Progeria - diagnosis; Progeria - genetics; Prognosis; Republic of Korea; 의학일반; Republic of Korea; Progeria; Hutchinson Gilford Progeria Syndrome; LMNA
• ISSN: 1011-8934; 1598-6357
• DOI: 10.3346/jkms.2011.26.12.1642

Hutchinson-Gilford progeria syndrome (HGPS) is a rare condition originally described by Hutchinson in 1886. Death result from cardiac complications in the majority of cases and usually occurs at average age of thirteen years. A 4-yr old boy had typical clinical findings such as short stature, craniofacial disproportion, alopecia, prominent scalp veins and sclerodermatous skin. This abnormal appearance began at age of 1 yr. On serological and hormonal evaluation, all values are within normal range. He was neurologically intact with motor and mental development. An echocardiogram showed calcification of aortic and mitral valves. Hypertrophy of internal layer at internal carotid artery suggesting atherosclerosis was found by carotid doppler sonography. He is on low dose aspirin to prevent thromboembolic episodes and on regular follow up. Gene study showed typical G608G (GGC- > GGT) point mutation at exon 11 in LMNA gene. This is a rare case of Hutchinson-Gilford progeria syndrome confirmed by genetic analysis in Korea.