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

By Le Phuong   April 19, 2021 | 10:22 am GMT+7
Vietnam records 1st case of LEOPARD syndrome, only world's 200th
The body of the girl diagnosed with LEOPARD syndrome appears with multiple brown skin spots (lentigines). Photo courtesy of Ho Chi Minh City Dermatology Hospital.
An eight-year-old girl in Tien Giang Province has been diagnosed with LEOPARD syndrome, a very rare disease that only a few dozen people have ever had.

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.

 
 
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