An eight-year-old girl in the southern province of Tien Giang has been diagnosed with LEOPARD syndrome, which is the first case in Vietnam, according to Dr. Tran Nguyen Anh Tu, deputy head of the department of skin aesthetics at the Ho Chi Minh City Dermatology Hospital.
LEOPARD is a very rare disease that only a few hundreds of people have ever had, Tu said, adding that since it was first recorded in 1936, there have only been 200 confirmed cases worldwide so far.
The body of the girl diagnosed with LEOPARD syndrome appears with multiple brown skin spots (lentigines). Photo: Ho Chi Minh City Dermatology Hospital |
The girl’s family said dark-brown stains (lentigines) began appearing all over the face and body of the little girl since she was four years old.
She was born deaf and unable to speak, with physical and mental disabilities, abnormalities in the jawbone, spine, shoulder, chest, and teeth.
These are all typical signs of LEOPARD syndrome and no one in her family had the same disease.
Because of the disease, the patient is only 105cm tall and weighs 15kg. She has dark brown spots less than 5mm in diameter on the face, chest, arms and legs. The lighter brown spots of 2x3cm are on the back.
Genetic analysis at the Center for Molecular Biology of the Ho Chi Minh City University of Medicine and Pharmacy identified that the patient suffered from PTPN11 genetic mutations, which is believed to cause the very rare condition.
"This is consistent with LEOPARD syndrome due to the PTPN11 gene mutation, accounting for 90% of the cases," Dr. Tu said.
The patients diagnosed with LEOPARD syndrome need to be closely medically monitored and have their heart checked once a year for early diagnosis of abnormalities, Dr. Tu noted, adding that symptoms are treated appropriately.
In the world, the latest case of leopard syndrome was reported in 2017, a 12-year-old boy in Brazil. In 2015, a 22-year-old female patient was recorded in India.
The acronym LEOPARD describes the features of the syndrome:
- (L)entigines - dark spots on the skin
- (E)lectrocardiographic conduction defects - abnormalities of the electrical activity of the heart
- (O)cular hypertelorism - widely spaced eyes
- (P)ulmonary stenosis - obstruction of the normal outflow of blood from the right ventricle of the heart
- (A)bnormalities of the genitalia
- (R)etardation of growth resulting in short stature
- (D)eafness.
