Journal of Dr. NTR University of Health Sciences

CASE REPORT
Year
: 2012  |  Volume : 1  |  Issue : 2  |  Page : 120--121

Hutchinson Gilford progeria syndrome


Sameeraja Vaddera, Satyanarayana R Kakollu, Sudhakar Kancharla, Madhuri Cherkuri 
 Department of General Medicine, Siddhartha Medical College, Vijayawada, Andhra Pradesh, India

Correspondence Address:
Sameeraja Vaddera
Department of General Medicine, Siddhartha Medical College, Gunadala, Vijayawada, Andhra Pradesh
India

Abstract

Progeria is a rare disease with short stature and premature aging. The incidence is 1 in 8 million. Though the clinical features are typical, conventional biochemical and radiological features help in confirming the diagnosis. We present a rare case of short-statured female with features of aging and skin manifestations, suggestive of progeria.



How to cite this article:
Vaddera S, Kakollu SR, Kancharla S, Cherkuri M. Hutchinson Gilford progeria syndrome.J NTR Univ Health Sci 2012;1:120-121


How to cite this URL:
Vaddera S, Kakollu SR, Kancharla S, Cherkuri M. Hutchinson Gilford progeria syndrome. J NTR Univ Health Sci [serial online] 2012 [cited 2020 Apr 4 ];1:120-121
Available from: http://www.jdrntruhs.org/text.asp?2012/1/2/120/98360


Full Text

 Introduction



Progeria, also known as Hutchinson-Gilford progeria Syndrome (HGPS), is an extremely rare genetic disorder with aging features at an early age. Hutchinson described the first patient with HGPS in 1886 in a 6-year-old boy whose appearance was that of an old man. [1] Later, Gilford described patients with similar clinical findings. [2] A single gene disorder with point mutation in lamin A (LMNA) gene leading to appearance of an 8-year-old as an 80-year-old. Features of aging like atherosclerosis, osteoporosis, wrinkled skin are seen. [3]

 Case Report



26-year-old female was apparently normal till the age of 11 years. Illness started as failure to thrive at the age of 11 years along with gradual loss of hair leading to alopecia totalis. At age of 20 years, she developed difficulty in opening mouth, difficulty in talking, and severe headache. She was hospitalized for oral ulcers, cough, weight loss, and for loss of appetite. Her intelligence was normal. She did not attain menarche, and secondary sexual characters were absent. She was born out of non-consanguineous marriage with normal antenatal and postnatal history. She had 8 siblings; 5 died during antenatal and postnatal periods. The other 2 were sisters, normal and were married. On examination, she was short-statured (height: 140 cms, weight: 20 kgs) [Figure 1] with alopecia totalis [Figure 2] prominent scalp veins [Figure 3], scleroderma-like skin over the face and limbs, micrognathia, irregular dentition, loss of subcutaneous fat, dry and scaly skin, wrinkled face, thin and high-pitched voice, absent secondary sexual characters. Respiratory system examination revealed left upper lobe fibrosis. Other systems were normal. Investigations revealed microcytic hypochromic anemia. Venereal Disease Research Laboratory Test and serology for HIV infection were non-reactive. Blood sugar serum creatinine, lipid profile, growth hormone, thyroid stimulating hormone, follicular stimulating hormone, luteinizing hormone were normal. ANA was negative. Chest X-ray showed fibro-cavitary lesion in left upper lobe. Electrocardiogram and 2D Echo were normal. Ultrasound abdomen showed tapery uterus and small ovaries. Vision and fundus were normal. Audiogram revealed conductive hearing loss in both ears. CT brain showed mild cortical atrophy and carotid intima-media thickness, suggesting arterial thickening.{Figure 1}{Figure 2}{Figure 3}

 Discussion



Hutchinson Gilford progeria Syndrome is a rare single gene disorder affecting 1 in 4-8 million live births. [3] It is sporadic or autosomal dominant disease due to de-novo mutation that occurs in sperm or gamete prior to conception. Parents and siblings of the affected individual are normal. In our case, the 2 other sisters were normal [Figure 4]. Progeria usually allows a child to live to their mid teens or early twenties, on an average of 13 years. In most cases, death is caused by atherosclerosis, leading to myocardial infarction or stroke. Later research identified point mutation in position 1824 of the LMNA gene, replacing cysteine with thymine creating abnormal lamin A, that codes for inner membrane of cell nucleus. Progerin, an abnormal lamin A, is produced that disrupts structural integrity of inner nuclear membrane in a dominant negative fashion. This leads to accumulation of all progerin genes, formation of nuclear blebs disrupting mitosis, altering gene expression. Hence, progeria is confirmed by a genetic test for point mutation in LMNA gene. [4],[5] We could not do this because of non-availability. We identified our case mainly by clinical features. The patient has classical clinical features with many skin manifestations. Arterial thickening suggested by carotid intima media thickness, and atrophic changes in CT brain are features of aging.{Figure 4}

References

1Hutchinson J. A case of congenital absence of hair with atrophic condition of the skin and its appendages. Lancet 1886;1:923.
2Gilford H. Progeria: A form of senilism. Practitioner 1904;73:188-217.
3Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, et al. Hutchinson-Gilford progeria syndrome: Clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature. Br J Dermatol 2007;156:1308-14.
4Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003;423:293-8.
5Cao H, Hegele RA. LMNA is mutated in Hutchinson-Gilford progeria but not in Wiedemann-Rautenstrauch progeroid syndrome. J Med Genet 2003;48:271-4.