Background Progeria is an extremely rare form of dwarfism, affecting a mere 200-250 children worldwide at a time (Gordon, 2013).Classically known as Hutchinson-Gilford progeria syndrome, HGPS is a disease that causes the body to "prematurely age". Manifestations of this disease affects the skin, musculoskeletal system, and vasculature. The term progeria is derived from the Greek word geras, meaning "old age" (Shah, 2015). Dr. Jonathan Hutchinson first described this syndrome in 1886, and again in 1897 by Dr. Hastings Gildford. Since the first discovery only approximately 130 cases have been reported in literature (Hutchinson-Gilford Progeria syndrome, 2007). Although born looking normal, children start displaying accelerated aging at the ages of 12-24 months.
Case Study …show more content…
He has alopecia, a wide gait, beaked nose and thin lips. His limbs are thin with prominent joints, and the skin is lacking normal subcutaneous fat. The parents state he was failure to thrive since 6 months, hasn't really ever had hair, and had prominent scalp veins. After blood tests were ran, the patient presented with elevated platelet counts, and elevated serum phosphorus levels. Intelligence tests normal. The patient over goes x-rays to observe bone growth. The results conclude smaller, disproportionate bones such as: small mandible with a obtuse angle (usually present in infants), and the long bones are shortened with flares at the end. With x-ray results and the physical observations, the patient is diagnosed with Hutchinson-Gilford progeria syndrome. The treatment will be supportive and to prevent
Case Study …show more content…
He has alopecia, a wide gait, beaked nose and thin lips. His limbs are thin with prominent joints, and the skin is lacking normal subcutaneous fat. The parents state he was failure to thrive since 6 months, hasn't really ever had hair, and had prominent scalp veins. After blood tests were ran, the patient presented with elevated platelet counts, and elevated serum phosphorus levels. Intelligence tests normal. The patient over goes x-rays to observe bone growth. The results conclude smaller, disproportionate bones such as: small mandible with a obtuse angle (usually present in infants), and the long bones are shortened with flares at the end. With x-ray results and the physical observations, the patient is diagnosed with Hutchinson-Gilford progeria syndrome. The treatment will be supportive and to prevent