Thu, May 01, 2014 - Page 3 News List

Study suggests rare illness in children linked to gene

CODE CRACKING:An NTU Pediatric Hospital team found variations in the RNF213 gene of about a third of patients with moyamoya, a brain disease, indicating a causal link

By Lee I-chia  /  Staff reporter

Kuo Meng-fai, director of the National Taiwan University Hospital’s department of pediatric neurosurgery, yesterday points to brain scans related to a new study on diagnosing moyamoya disease.

Photo: Chiu Yi-chun, Taipei Times

A possible genetic link to moyamoya disease, a rare cerebrovascular disease that can cause strokes in children, has been identified by the National Taiwan University Pediatric Hospital, the Ministry of Science and Technology said yesterday.

A research team at the hospital funded by the ministry conducted a study of 36 patients with moyamoya disease and found variations in the RNF213 genes of 30.6 percent of the subjects.

Moreover, the team discovered that 15 percent of moyamoya sufferers develop just one type of cognitive disability, while 23 percent develop more than one, indicating that early diagnosis and treatment is critical in limiting the disease’s progression in children.

Kuo Meng-fai (郭夢菲), the director of the hospital’s pediatric neurosurgery department, said many people do not know that strokes can occur in children, but moyamoya — which predominantly affects Asian children, but also afflicts adults and kids in other regions — constricts or clogs certain arteries in the brain, which can cause a stroke.

She said the disease tends to afflict more girls than boys and is most often detected in children aged between five and 15.

According to her research, Kuo said that 25 percent of children with moyamoya also suffer from seizures.

Symptoms that could indicate the presence of moyamoya include if a child suddenly loses strength in one side of their body; alternates from one side to the other after crying or screaming; or hyperventilates after exhaling air from their mouth, she said.

Parents who observe these behaviors should have their child examined by a doctor immediately because these symptoms can disappear shortly after the child gets some rest, meaning that the disease’s presence often goes undetected, Kuo said, adding that early diagnosis is crucial in young patients since repeated occurrences of the disease’s symptoms can cause brain damage.

Kuo said moyamoya can be diagnosed through magnetic resonance angiography and the success rate of the surgery recommended to treat it in Taiwan is about 94 percent.

This story has been viewed 2106 times.

Comments will be moderated. Keep comments relevant to the article. Remarks containing abusive and obscene language, personal attacks of any kind or promotion will be removed and the user banned. Final decision will be at the discretion of the Taipei Times.

TOP top