Hutchinson – Gilford Progeria Syndrome with associated hypothyroidism: A rare case report
Abstract
Hutchinson–Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a five year old female child with clinical manifestations characteristic of this syndrome. This child had a senile look with large cranium, frontal bossing, sparse light brown hair and dilated visible veins over the scalp. Other features were prominent eyes, beaked nose, micrognathia, sclerodermatous changes in both feet and legs, laxed and atrophic skin over dorsum of both hands and mottled pigmentation over trunk. Decreased highdensity lipoprotein (HDL) levels was characteristic of the syndrome. This case is reported for its rarity and uncommon relationship with hypothyroidism.
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Introduction
Hutchinson – Gilford Progeria Syndrome (HGPS; MIM 176670) is a rare premature ageing syndrome which was first described in 1886 by Jonathan Hutchinson and by Hastings Gilford in 1897.1 Since then, just over 100 cases of HGPS have been reported. 2Most cases occur due to denovo mutation and are rarely inherited. Males are commonly affected than females in the ratio of 1.5. 3. These patients exhibit characteristic facies, similar to that of “plucked-bird”.4 The classical clinical presentation, conventional radiological & biochemical investigations confirm the diagnosis. Significant morbidity and mortality results from accelerated atherosclerosis of the carotid and coronary arteries.5
Conclusion
This case of Hutchinson – Gilford Progeria Syndrome is reported due to its rarity and associated hypothyroidism which is new to the literature.
Although there is no cure, early recognition of these hereditary premature ageing diseases is essential to be prepared for anticipated complications and their timely management