Surgical and orthopedic issues in a patient with Hutchinson-Gilford progeria

Abstract

After summing up the most relevant knowledge on this rare and curious disorder, we discuss the case of a girl with Hutchinson-Gilford progeria, presenting with several intercurrent surgical and orthopedic problems. This was the first of the two patients positively diagnosed with this disease in Romania, until nowadays. The girl had suffered accidental 2nd and 3rd degree burns of the right hand and forearm at the age of 2 years, but the family had neglected to carry on the recommendation for anti-retraction splinting of the affected limb segments. Subsequently, a retractile, vicious, unstable scar had developed in the affected area. Local sequels also included secondary arm and forearm hypoplasia with considerable atrophy of the muscular structures in the area, claw retraction of the right hand fingers and subtotal function loss of the affected segments. It is also important to notice that the positive diagnosis of progeria in this child has been established quite late, at approximately 5 years of age. When aged 10, the patient had suffered a diaphyseal oblique fracture of the right femur, treated by closed approximate reduction and splinting in a thoraco-pelvi-podal plaster cast for 2 months. After 20 months since the fracture occurrence, the good functional recovery of the affected limb amazed the surgeons, allowing the supposition that her system still had enough reserves to carry her beyond the mean survival age for the condition (13-14 years). A dorsalis major free muscular transfer was proposed as a solution to improve the local status of the right upper limb. Unfortunately, the surgical approach did not occur, as the patient died at the age of 14. The importance of communicating pertinent up-to-date medical information in such rare cases cannot be overstressed.