Vietnam records 1st case of LEOPARD syndrome, only world's 200th

Dr Tran Nguyen Anh Tu, deputy head of the department of skin aesthetics at the Ho Chi Minh City Dermatology Hospital, where the girl was hospitalized, said at annual scientific conference on Sunday this was the first case of the condition recorded in Vietnam.

The child’s family said she was born deaf and unable to speak and with physical and mental disabilities.

She was hospitalized with brown skin spots (lentigines) on her face and body, and abnormalities in the jawbone, spine, shoulder, chest, and teeth.

A genetic analysis at the HCMC University of Medicine and Pharmacy’s Center for Molecular Biology found he had a mutation of the PTPN1 gene, which is believed to cause the very rare condition.

LEOPARD, which is also known as the Noonan syndrome, is an acronym for the abnormalities associated with the disorder like lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and deafness.

Since it was first described in 1936, there have only been 200 confirmed cases in medical history, Tu said.

Those diagnosed with the condition need to be closely medically monitored and have their heart checked once a year for early diagnosis of abnormalities.