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Year : 2005  |  Volume : 15  |  Issue : 4  |  Page : 459-462
Progeria - the forgotten face


Dept of Radiodiagnosis & Imaging, Armed Forces Medical College, Pune - 411 040, India

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Keywords: Progeria, Dorsum, Extremities

How to cite this article:
Manrai K, Alam A, Sreeram M N. Progeria - the forgotten face. Indian J Radiol Imaging 2005;15:459-62

How to cite this URL:
Manrai K, Alam A, Sreeram M N. Progeria - the forgotten face. Indian J Radiol Imaging [serial online] 2005 [cited 2020 Jul 7];15:459-62. Available from: http://www.ijri.org/text.asp?2005/15/4/459/28773

   Introduction Top


Progeria is a rare disorder with a reported incidence of one in 8 million births and characterized by premature aging. It occurs sporadically and is believed to follow an autosomal recessive inheritance. Males outnumber females with a ratio of 1.5:1, and racial susceptibility strongly favors Caucasians who represent 97% of patients [1].

The clinical presentation is typical; and conventional radiological and biochemical investigations can further confirm diagnosis. Prognosis is guarded in these cases, as majority die by early teenage due to the effects of old age. We present a rare case of Progeria with almost all the radiological changes mentioned in literature as a pictorial essay.


   Case report Top


A 3-year-old girl child presented with progressive history of coarsening of skin, failure to thrive, and inability to squat for past the 2 years. The child had also developed global alopecia over the past 1 year.

This third born child of a non-consanguineous marriage had an uneventful perinatal history. The child was apparently normal till 1 year of age when the parents started noticing these features. There was no history of mental retardation or delayed milestones in the child. No history of similar complaints in the grandparents, parents or the siblings could be elicited. General examination revealed the child to be of short stature, malnourished and frail looking with a height of 82cm, weight of 10kg, and head circumference measuring 44cm [Figure - 1]. There was prominence of eyes and a small chin. The anterior and posterior fontanelles were open. There were numerous patches of coarse, thickened skin especially over dorsum of hands and shoulders. The terminal ends of the fingers were stubby [Figure - 2]. Based on the history and clinical findings a provisional diagnosis of Progeria was made.

Biochemical investigations were normal except for increased serum cholesterol, which was 228mg%.

To confirm the diagnosis, the child was subjected to a skeletal survey. Radiographs of the skull showed gross sutural diastasis with numerous wormian bones, with a small mandible [Figure - 3].

Radiograph of the chest showed sloping slender ribs with thinning of both 3rd ribs posteriorly. The clavicles were small and tapered. Both humeri revealed narrowing at the proximal diaphyseal end with an area of sclerosis at the proximal end of the shaft on the right side [Figure - 4].

Radiograph of the dorsal spine showed presence of fish mouth vertebrae [Figure - 5]. Radiograph of the pelvis showed presence of bilateral coxa valga deformity [Figure - 6]. Radiograph of the hands showed the resorption of terminal phalanges consistent with acro-osteolysis [Figure - 7]. The bone age was however corresponding to the chronological age. The radiological findings confirmed the clinical suspicion of Progeria.


   Discussion Top


Progeria is a rare genetic disorder phenotypically characterized by many features of premature aging [2]. Hutchinson described the first case of Progeria in 1886, however the term "Progeria" was coined by Gilford in 1904 and is derived from the Greek word "geraios" meaning old [1]. De Busk in 1972 renamed this condition as " Hutchinson-Gilford progeria More Details syndrome"[3]. The rate of ageing in the affected individual is accelerated to seven times that of normal. The average life span is 13 years (range 7 -27 years) although there have been isolated reports of survival till the age of 45years [4]. A majority of these individuals die due to cardiovascular complications like myocardial infarction or congestive heart failure. Other causes of death include marasmus, inanition, convulsions and accidental head trauma [1].

The basic etiology of this disorder is still under speculation - the probable cause being a mutation in Lamin-A/C gene [5]. This mutant gene leads to an abnormality in control of the cell division and in the formation and remodeling of collagen and extra cellular matrix. There is also an increase in the hyaluronic acid levels that is responsible for sclerodermatous changes and cardiovascular abnormalities. In Progeria, hyperlipidemia is often present with increased low-density lipoprotein and increased serum cholesterol levels, as seen in our patient. Failure to thrive in patients of Progeria may be due to a bioinactive form of growth hormone and lack of vasculogenesis caused by excessive excretion of hyaluronic acid [6].

The affected children are normal at birth and start showing changes of alopecia with loss of subcutaneous fat along with sclerodermatous changes in the skin giving the typical "plucked bird" appearance at about 6 -12 months of age. Sclerodermatous changes first present in the region of the hips and proximal extremities. Scalp hair and eyelashes are progressively lost, resulting in baldness with a few vellus hairs remaining. Simultaneously, subcutaneous fat is reduced except in the suprapubic region. The scalp veins become prominent because of the loss of subcutaneous fat and hair. These patients are usually short and thin with an average height of 100 cm and average weight of 12-15 kg or even less [7]. With time they develop progressive degenerative changes in the skeleton and arteriosclerotic changes in the blood vessels. Delayed and abnormal dentition is also common. The typical "Horse-riding" stance is probably due to the coxa valga deformity. When compared with healthy growth patterns of the same age group, patients with Progeria exhibit normal bone age and a normal to slightly higher mental age [1].

Biochemical investigations are unremarkable except for elevated serum lipid levels and excessive secretion of hyaluronic acid in the urine.

The radiographic findings include osteopenia, fish mouth vertebrae, coxa valga, thin long bones with widened metaphyses, genu valgus, hypoplastic mandible with tooth loss, thin diploic space in the skull, open fontenalles, thin and sloping ribs, small thoracic cage, subluxation of the hips and aseptic necrosis of the femoral head. Certain parts of the skeleton like the clavicles, distal phalanges; upper ribs and proximal humeri undergo progressive osteolysis.

The differential diagnosis that can be thought of in these cases is of Werner syndrome, Acrogeria,  Rothmund-Thomson syndrome More Details and Cockayne syndrome.

To date, no effective therapy is available. Available medications only treat symptoms.[8]

 
   References Top

1.DeBusk FL: The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr 1972; 80(4): 697-724  Back to cited text no. 1    
2.Brown WT. Progeria: a human disease model of accelerated aging. Am J Clin Nutr, 1992; 55: 1222S-1224S.  Back to cited text no. 2  [PUBMED]  
3.DeBusk FL. The Hutchinson-Guilford progeria syndrome. J Pediatr 1972; 90:697-724.  Back to cited text no. 3    
4.Fukuchi K, Katsuya T, Sugimoto K et al. LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. Journal of Medical genetics 2004; 41-44.  Back to cited text no. 4    
5.Mounkes LC, Stewart CL. Aging and nuclear organization: lamins and progeria. Curr Opin Cell Biol. 2004 Jun; 16(3) : 322-327.  Back to cited text no. 5    
6.Zebrower M, Kieras FJ, Brown WT. Urinary hyaluronic acid elevation in Hutchinson-Guilford progeria syndrome. Mech Ageing Dev 1986; 35:39-46.  Back to cited text no. 6  [PUBMED]  [FULLTEXT]
7.Sarkar PK, Shinton RA: Hutchinson-Guilford Progeria syndrome. Postgrad Med J 2001; 77:312-317.  Back to cited text no. 7    
8.William H McAlister, Thomas E Herman, Keith A Kronemer: Selected Syndormes and Chromosomal Disorders. In Jerald P Kuhn, Thomas L Slovis, Jack O. Haller, Caffey's Pediatric Diagnostic Imaging 10th ed. Mosby, 2004: 2212- 2213.  Back to cited text no. 8    

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Correspondence Address:
K Manrai
Dept of Radiodiagnosis & Imaging, Armed Forces Medical College, Pune - 411 040
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.28773

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]

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    Introduction
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