ESPE Abstracts

Hutchison-Gilford progeria syndrome (HGPS) is a rare genetic disorder which is characterized by aging fast in affected individuals. The prevalence of HGPS is around of 1 in 20 million approximately. The exact etiology is not very well known, However it is believed to be an autosomal dominant disorder that occurs due to point mutations in lamin A (LMNA) gene. In this case report we share the challenges of being the first presented case in Oman. A 6 years old Omani boy diagnosed with Hutchinson-Gilford progeria syndrome presented with aged looking skin. Early in Infancy, the child presented with failure to thrive, Upon examining the case it was found that there is distinctive dysmorphic features of small chin, peaked nose, prominent blood vessels and protruded ears, there was atrophic-sclerodermoid skin changes on lower back and abdomen. The patient was evaluated by multidisciplinary team for the various problems. ECG and Echo were done and all normal. A biopsy showed sclerodermoid skin changes. Hearing and eye assessment also done and were normal. However The genetic test showed mutation in the LMNAgene. Pt was referred for dietician for failure of thrive and diet modifications because he is prone for early onset atherosclerosis. He was started on Lonafarnib as it is the current available treatment via clinical trial, and currently it is FDA approved. Families with patients with progeria usually they have a lot of challenges. In our case the we help the parent to overcome the obstacles they have met. One example that parent were counselled about the possibility of contractures and the importance of doing exercises at home. Swimming is a good option, we advised for Swimming suit as the patient has no subcutaneous fat. Usually the average life span for patient with progeria is 14.6 years. Genetic testing by (PCR) with western blot protein analysis can confirm the diagnosis. Multidiscipline workup, including ECG, echocardiogram, carotid duplex scanning, hip X‐rays and bone densitometry scans should be done annually. Dietary control and sometimes medical treatment in the form of low dose aspirin is recommended as prophylaxis to prevent atherosclerotic changes. Till now, no cure has been found for this catastrophic disorder however Lonafarnib is recently approved by FDA as the as the first treatment of progeria In conclusion, Still There are multiple efforts and researches are ongoing to delay the process of ageing.