Volume 23, Issue 1 (Apr - May 2019)                   J Qazvin Univ Med Sci 2019, 23(1): 84-91 | Back to browse issues page


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Yaghoubi S, Mohammadi S, Yekefallah L, Taromiha A, Bagheri A. A Case Report of Hutchinson-Gilford Progeria Syndrome . J Qazvin Univ Med Sci. 2019; 23 (1) :84-91
URL: http://journal.qums.ac.ir/article-1-2567-en.html
1- Department of Anesthesiology, School of Medicine, Qazvin University of Medical Sciences, Qazvin, Iran
2- Department of Critical Care Nursing, School of Nursing and Midwifery, Qazvin University of Medical Sciences, Qazvin, Iran
3- Department of Critical Care Nursing, School of Nursing and Midwifery, Qazvin University of Medical Sciences, Qazvin, Iran , leili_fallah@yahoo.com
4- Shahid Rajaee Educational Center, Qazvin University of Medical Sciences, Qazvin, Iran.
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1. Introduction
utchinson-Gilford Progeria Syndrome (HGPS) was described in the medical literature for the first time in 1886. The patient with HGPS has the physical characteristics and appearance of an older person [1]. In these patients, the aging process is 8-10 times faster than that in healthy people. According to the Progeria Research Foundation, it is estimated that around 200 children worldwide have HGPS, but the exact number of these patients is still unknown [2]. Currently, no effective treatment is known for this disease, and the patients are symptomatically treated with the administration of aspirin, pravastatin, and growth hormone [3]. Stroke and heart failure are the causes of death in 75% of the patients, and the average survival age is 13 years [4]. Due to the rarity of this syndrome in the world, providing a report of these patients can help to understand better the specific characteristics of the patients with HGPS.
2. Case Report
The patient was a 15-year-old boy who was referred to the Emergency Department of Shahid Rajaee Hospital in Qazvin City, Iran, for the treatment of severe abdominal pain and nausea. He had a history of multiple hospitalizations due to impaired growth and frequent infections. He was the third child of the family, and his only brother and two sisters were healthy. His parents had no consanguineous marriage and no history of cardiovascular disease, underlying illness, and hospitalization.
According to general examinations, he was skinny with short stature, senile look, prominent eyes, thin built body, prominent sharp and slim nose, small chin, bald head, coarse and wrinkled skin due to the loss of subcutaneous fat, short and thick nails, and subtle and delicate tone. Laboratory findings revealed that he had leukocytosis, which was expected to be caused by appendicitis. Based on biochemical tests, his levels of cholesterol, urea, and creatinine were normal, and the echocardiography showed the ejection fraction of 60%, moderate stenosis mitral valve, and moderate aortic valve insufficiency. The patient had normal electrocardiogram (ECG) result with no arrhythmias. Finally, after completing medical examinations, due to the diagnosis of appendicitis, the patient underwent surgery. Table 1 shows the other test results. Figures 1 (A & B) and 2 show his X-ray images and ECG results.


3. Discussion
HGPS is transmitted as an autosomal dominant disorder. This disease is caused by a mutation in the exon 11 of the LMNA gene on the long arm of chromosome 1. This genomic instability leads to reduced cell proliferation, premature aging, and death [5]. Men are affected 1.5 times more than women [6]. Affected children are short-statured and underweight with an average height of 100 cm and an average weight of 12-15kg. These children grow normally at birth, but by the end of the first year, their normal growth and weight gradually slow down. At the end of the first decade, the patient has the developmental characteristics of a 3-year-old child [7]. The patient’s IQ remains normal. Lipodystrophy leads to senile look and glyphic nose. The involvement of the lower limbs with valgus deformity and mid flexion causes a “horse riding” stance [8]
The syndrome should be differentially diagnosed from scleroderma, Cockayne syndrome, Rothmund-Thomson syndrome, Werner syndrome, acrogeria, and ectodermal dysplasia. In our patient, Cockayne syndrome was rejected due to lack of photosensitivity, facial erythema, and ocular defects, and his natural IQ. Rothmund-Thomson syndrome was ruled out because of the absence of erythema, poikiloderma, and cataract.
The age of onset of symptoms ruled out Werner syndrome. Acrogeria also appears at birth, and lack of conical teeth and hypotrichosis rejected ectodermal dysplasia [8]. Moreover, due to precocious aging, high serum levels of lipoprotein, cholesterol, and lipids are seen in these patients [7]. The biochemical test results of the blood samples and triglyceride and cholesterol levels indicate the difference between the patient in the present study and those of other case reports. The ECG results showed a normal ejection fraction rate, which is different from those of similar patients at this age. For example, in the study of Akrami and Yousefzadeh the patient suffered from severe valvular insufficiency, moderate pulmonary hypertension, and asthma [5].
Another result is related to the normal levels of urea and creatinine, whereas these values are expected to increase in these patients. The patient in our study underwent an operation due to the diagnosis of acute appendicitis, whereas acute appendicitis is primarily a disease of young adults. Only 5% to 10% of cases occur in older adults, and it is associated with increased mortality in them due to delay in atypical presentations, which leads to increased perforation and intra-abdominal infection [9]. Compared with younger adults, elderly patients have many underlying illnesses that lead to their high mortality [10]. In our patient, no atypical presentation and perforation was observed. No study was found on a patient with HGPS that had appendicitis and underwent an appendectomy.
Ethical Considerations
Compliance with ethical guidelines

All ethical principles were considered in this article. The patient’s name remained confidential. The research objectives were explained to the patient and his family, and they made assured of the confidentiality of their information.
Funding
This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
Authors' contributions
Investigation and resources: Sareh Mohammadi, Leili Yekefallah; Data curation and writing the manuscript: Siamak Yaghoubi, Sareh Mohammadi, Leili Yekefallah; Editing; Sareh Mohammadi, Ali Taromiha; Results setting; Sareh Mohammadi, Ameneh Bagheri.
Conflicts of interest
The authors declared no conflict of interest.
Acknowledgements
We are grateful to the staff of the ICU at Shahid Rajaee Hospital.
 
References
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Type of Study: case report | Subject: General Physician

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