Vietnam records a rare case of cri du chat syndrome

By Nam Phuong   September 22, 2016 | 01:18 am PT
Vietnam records a rare case of cri du chat syndrome
A general doctor might spend his whole life without coming into contact with a patient diagnosed with cri-du-chat syndrome. Photo by VnExpress/N.P.
You have never heard of a baby crying in a high-pitched, catlike shriek? Neither had the doctor at a hospital in Hanoi.

An infant from coastal city Nam Dinh, about 90km to the south of Hanoi, was taken to the hospital because when he cries, he sounds like a kitten, said the mother.

The one-year-old baby boy, weighing only 6 kilograms - the normal weight of a 3-month-old newborn, was born with a cleft lip and cleft palate, said Dr. Nguyen Thanh Thai, head of the facial surgery department at the Vietnam-Cuba Hospital.

The doctors noted the baby’s head was small, his eyes were wide-spread and his reflexes were slow.

And when he cried, the doctors were suspicious of something more serious than minor abnormalities.

And the genetic testing confirmed their suspicion: The baby boy has cri du chat syndrome.

Cri du chat syndrome, which in French means “the cry of a cat”, is so rare that a general doctor could spend his whole life without coming into contact with a patient.

The sufferers have a missing chromosome and look like people with the more common Down syndrome.

Cri du chat syndrome, which strikes about one in 50,000 babies, is most often detected in infants because of its characteristic "high, shrill, mewing, kitten-like cry," according to the National Organization for Rare Diseases.

The mother said she caught a mild flu during the early stage of her pregnancy.

Prenatal testing only detected the physical impairment of a cleft lip and cleft palate, said the second-time mother.

When the baby boy uttered his first cry, he sounded like a kitten meowed, said the mother.

Ten days after his birth, the boy was taken to obstetricians in Hanoi for a health check. There, the doctors ordered a genetic testing which confirmed the boy was born with “the cry of a cat”.

Children with the syndrome have difficulty with speech. Nearly all have weak muscle tone and experience certain delays in walking. Even the mildest cases have some intellectual impairment, said the doctors.

Doctors advised early diagnosis and intervention greatly help the patients with speech as well as social adjustment, said Dr. Thai.

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