Hutchinson-Gilford Progeria Syndrome
WANEE WISUTHSAREWONG, M.D.*,
SUCHITRA VIRAVAN, M.D.*
Affiliation : * Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
AbstractHutchinson-Gilford progeria syndrome is an extremely rare condition of premature aging.
It is characterized by growth retardation and accelerated degenerative changes of cutaneous.
musculoskeletal and cardiovascular systems. The pathogenesis of the disease is unknown. The
patients usually appear normal at birth. Typical manifestations develop gradually and arc evident
by the first or second year of life. They have a remarkably similar physical appearance consisting
of short stature, alopecia, craniofacial disproportion, micrognathia, hypoplastic mandible, beak-like
nose, decreased subcutaneous fat, atrophic skin, sclerodermoid lesion, mottling hyperpigmentation.
prominent scalp veins, prominent eyes, protruding ears with absence of earlobes. faint midfacial
cyanosis, delayed closure of fontanelles and sutures, delayed dentition, horse-riding stance. thin
limbs with prominent stiff joints, coxa valga, skeletal hypoplasia and dysplasia, dystrophic
nails and high-pitched voice. Laboratory investigations are unremarkable. Metabolic, endocrine,
serum lipid and immunologic studies show no uniform abnormalities. Typical radiographs
demonstrate evidence of resorption of the distal ends of clavicles, attenuation of the terminal
phalanges, diffuse osteopenia, and fishmouth vertebral bodies. In this report, a 3-year-old Thai
girl with typical characteristics of Hutchinson-Gilford progeria syndrome is described.
Keywords : Hutchinson-Gilford Progeria Syndrome - Case Report
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