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Published in: Skeletal Radiology 8/2017

01-08-2017 | Case Report

Progeria: an extremely unusual disorder

Authors: Gurnihal Singh Chawla, Purva Mahesh Agrawal, Avinash Dhok

Published in: Skeletal Radiology | Issue 8/2017

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Abstract

Hutchinson-Gilford progeria syndrome, also known as progeria, is an extremely rare disorder with an incidence rate of 1 in 8 million. It occurs sporadically, and patients suffering from this syndrome usually exhibit premature ageing. It has an autosomal recessive inheritance with a slight male predominance. The affected children usually die early with an average life span of 13.4 years. The most common cause of death in such patients is a cardio-vascular abnormality such as myocardial infarction. We present a rare case of progeria in an 8-year-old boy who was diagnosed clinically and was referred to our department for a skeletal survey. Almost all of the typical radiological findings were present in this case, which further confirmed the clinical diagnosis of progeria.
Literature
1.
go back to reference Hutchinson J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet. 1886;1:923. Hutchinson J. Case of congenital absence of hair, with atrophic condition of the skin and its appendages, in a boy whose mother had been almost wholly bald from alopecia areata from the age of six. Lancet. 1886;1:923.
2.
go back to reference Gilford H. Progeria: a form of senilism. Practitioner. 1904;73:188–217. Gilford H. Progeria: a form of senilism. Practitioner. 1904;73:188–217.
3.
go back to reference Manrai K, Alam A, Sreeram MN. Progeria-the forgotten face. Indian J Radiol Imaging. 2005;15(4):459.CrossRef Manrai K, Alam A, Sreeram MN. Progeria-the forgotten face. Indian J Radiol Imaging. 2005;15(4):459.CrossRef
5.
go back to reference Russo-Menna I, Arancibias C. The Hutchinson-Gilford progeria syndrome: a case report. Minerva Anestesiol. 2010;76(2):151–4.PubMed Russo-Menna I, Arancibias C. The Hutchinson-Gilford progeria syndrome: a case report. Minerva Anestesiol. 2010;76(2):151–4.PubMed
6.
go back to reference Fukuchi K, Katsuya T, Sugimoto K, Kuremura M, Kim HD, Li L, Ogihara T. LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. J Med Genet. 2004;41:e67.CrossRefPubMedPubMedCentral Fukuchi K, Katsuya T, Sugimoto K, Kuremura M, Kim HD, Li L, Ogihara T. LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. J Med Genet. 2004;41:e67.CrossRefPubMedPubMedCentral
7.
go back to reference Mounkes LC, Stewart CL. Aging and nuclear organization: lamins and progeria. Curr Opin Cell Biol. 2004;16:322–7.CrossRefPubMed Mounkes LC, Stewart CL. Aging and nuclear organization: lamins and progeria. Curr Opin Cell Biol. 2004;16:322–7.CrossRefPubMed
8.
go back to reference DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972;80:697–724.CrossRefPubMed DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972;80:697–724.CrossRefPubMed
9.
go back to reference Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. Am J Neuroradiol. 2012;33(8):1512–8.CrossRefPubMed Ullrich NJ, Silvera VM, Campbell SE, Gordon LB. Craniofacial abnormalities in Hutchinson-Gilford progeria syndrome. Am J Neuroradiol. 2012;33(8):1512–8.CrossRefPubMed
Metadata
Title
Progeria: an extremely unusual disorder
Authors
Gurnihal Singh Chawla
Purva Mahesh Agrawal
Avinash Dhok
Publication date
01-08-2017
Publisher
Springer Berlin Heidelberg
Published in
Skeletal Radiology / Issue 8/2017
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI
https://doi.org/10.1007/s00256-017-2673-y

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