An 8-year-old girl in Tien Giang Province has been reported to have Leopard Syndrome
The girl has a large number of brown or black freckle-like skin markings on her face and body since she was four years old. She is also deaf and mute and her mind is stunted. At 8 years old, she is only over 1 metre tall and weighs 15kg. No one in the family has the same disease.
After she was admitted to the HCM City Hospital of Dermato-Venereology, the doctors noticed that she has many symptoms of the Leopard Syndrome. The brown markings on the face, chest and limbs have a darker colour while the markings on other parts are larger but have a lighter colour.
The genetic analysis results from HCM City University of Medicine and Pharmacy show missense mutations in the PTPN11 gene.
The first case of Leopard Syndrome was first discovered in 1936 in the world. As of now, there are 200 reported cases globally. Other symptoms are eyes that are spaced wide apart, heart problems, abnormalities of the genitals, hearing loss and stunted growth.
Symptoms are treated as appropriate.