Hutchinson-Gilford progeria syndrome with G608G LMNA mutation

Abstract

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.

Keywords: Hutchinson Gilford Progeria Syndrome; LMNA; Progeria.

Fig. 1

(A) General appearance of the patient with characteristic prematurely aged appearance, retarded growth. (B) Lateral and top view of the head showing macrocephaly, alopecia, prominent scalp veins.

Fig. 2

(A) Echocardiographic parasternal long-axis view showes mitral annulus and mitral valve calcification compatible with senile process. (B) Echocardiographic parasternal short-axis view of arotic valve showes inhomogeneously increased echodensity of the valve and thickening of the leaflets. (C) Echocardiographic view of left commom carotid artery shows that the wall is thicker than the mean chronological age's.

Fig. 3

Sequence analysis of exon 11 of LMNA gene. This result shows G608G (GGC->GGT) heterogenous substitution in LMNA gene.