Case Study: Progeria in a Rural Hospital

By: Dr. J. Gnanaraj and Dr. Sunitha Gadudasu

INTRODUCTION

Progeria is also called HGPS syndrome [Hutchinson – Gilford Progeria syndrome]. It is an extremely rare genetic disorder which makes people age rapidly. It became popular due to a recent movie about it acted by famous Indian actor Mr. Amitab Bachchan. The name is derived from a Greek word Pro which means premature and geria which means old age.

The disorder has a low incidence of about 1 in 8 million live births and those born with the syndrome typically live up to the teens and maximum up to 20 years.

CASE HISTORY

Mr. and Mrs. B presented for tubal re-canalization because their previous child who looked similar to the present child died during childhood. They had a non-consanguineous marriage but both belong to the Naidu community which a backward community in that area.

DISCUSSION

This particular case is very rare because according to the parents the previous child looked exactly similar to the present child and failure to thrive is one of the early symptoms. After the age of about one and a half to two years there is growth retardation and full-body alopecia (hair loss), and a distinctive appearance (a small face with a shallow recessed jaw, and a pinched nose). Signs and symptoms become more marked as the child ages. Later, wrinkled skin, atherosclerosis, kidney failure, loss of eyesight, and cardiovascular problems appear. Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is present. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. The face is usually wrinkled, with a larger head in relation to the body, a narrow face and a beak nose. Prominent scalp veins are noticeable as well as prominent eyes. Musculoskeletal degeneration causes loss of body fat and muscle, stiff joints, hip dislocations, and other symptoms generally absent in the non-elderly population. Individuals usually retain typical mental and motor development.

There is no known effective treatment at this time and treatment is directed towards cardiovascular complications. Starting Aspirin and Pravastatin could be considered. Growth Hormone and anticancer medicines are being tried on animals. Previously only one family with five children with Progeria has been reported in India and another family with two children with Progeria in Belgium.

Despite being a very rare condition it has received lots of media attention and several films have been made and the condition is described in several novels.

Dr. J. Gnanaraj MS, MCh [Urology], FICS, FARSI, FIAGES is a urologist and laparoscopic surgeon trained at CMC Vellore. He has been appointed as a Professor in the Electronics and Instrumentation Engineering Department of Karunya University and is the Director of Medical Services of the charitable organization SEESHA. He has a special interest in rural surgery and has trained many surgeons in remote rural areas while working in the mission hospitals in rural India. He has helped 21 rural hospitals start minimally invasive surgeries. He has more than 150 publications in national and international journals, most of which are related to modifications necessary for rural surgical practice. He received the Barker Memorial award from the Tropical Doctor for the work regarding surgical camps in rural areas. He is also the recipient of the Innovations award of Emmanuel Hospital Association for health insurance programs in remote areas and the Antia Finseth innovation award for Single incision Gas less laparoscopic surgeries. During the past year, he has been training surgeons in innovative gas less single incision laparoscopic surgeries.

Dr. Sunitha Gadudasu is currently working as a Dental Surgeon at Seesha Karunya community Hospital, Coimbatore, Tamil Nadu. She graduated from TN MGR University, Chennai ‐Tamilnadu. She is also certified in rotary endodontics from International Academy of Rotary Endodontics, USA. She also completed her M.B.A. (Hospital Administration).