"Slap face baby" born star face?
Was suffering from "small head syndrome"
Wuhan Evening News (correspondent Gao Chenchen, reporter Li Qing) The little girl was born with a "slap in the face". Everyone boasted of being a celebrity. They did not expect to find out the problem of "microcephaly".
Surprisingly, the child’s genetic test did not reveal any problems. Experts from the Wuhan Children’s Precision Medicine Center finally found that the “root of disease” was on the mother.
Niuniu, who is 3 and a half years old, was born in Huanggang, Hubei. Because Niuniu's head and face are obviously smaller than children of the same age, she is very photogenic, and neighbors praise her for having a "star face".
But so far, Niuniu can only call "Mom and Dad", weighing only 24 kilograms.
Grandma taught Niuniu to read, but she basically couldn't remember.
At the local hospital, doctors believed that Niuniu had obvious language and mental retardation, and she failed her hearing screening at birth. She may have hearing defects, and her family was in pain.
Recently, Niuniu's mother became pregnant again. The couple hoped to have a healthy baby, so they approached He Xuelian, director of the Precision Medicine Center of Wuhan Children's Hospital.
After consultation and measurement, He Xuelian found that Niuniu's head circumference was only 46 cm, which was significantly smaller than the head circumference of normal children of the same age, and that Niuniu's movement and language also lag behind to varying degrees. He is a child with "microcephaly".
He Xuelian introduced that microcephaly is a rare neurological disease that can cause children’s heads to become smaller and not fully developed, usually due to genetic defects related to brain development or fetal infections, parasites, toxic chemicals, and malnutrition. , Alcohol, drugs and other reasons.
In addition to small head circumference, children may also experience developmental delays, mental retardation, epilepsy, short stature, language delay, and visual and hearing impairments.
Under He Xuelian’s suggestion, Niuniu’s family of three underwent chromosome microarray and all-exome family testing, but the genetic test results did not reveal any problems with Niuniu’s chromosomes and genes.
Where is the problem?
When Niuniu returned to the clinic a month later, He Xuelian noticed that most of the medical history of the two visits was grandma and father. Mother Liu seemed to be "indifferent" to the child's health.
He Xuelian also noticed that Ms. Liu had yellow hair. At first she thought it was dyed hair, but she asked the grandmother of the child to find out that it was born.
He Xuelian asked about Niuniu's mother's intelligence again. Family members said that Niuniu's mother's reaction was slightly slower than normal, but if you don't get along day and night, you can't notice it.
He Xuelian wondered whether Niuniu's problem was inherited from her mother?
Subsequently, the He Xuelian team took Ms. Liu as a patient and re-analyzed the family's genetic testing data. This analysis yielded new findings.
The results show that Ms. Liu is most likely to be a patient with phenylketonuria, but because the symptoms are very mild and have not been treated, the blood phenylalanine level is high.
During pregnancy, the fetus has been in the intrauterine environment of phenylalanine, leading to developmental delay and microcephaly.
After testing his blood phenylalanine, the level was 9.26mg/L (less than 2mg/L in normal people), which confirmed He Xuelian's speculation.
He Xuelian reminds parents that if they find that their child has developmental delay, mental retardation or other congenital abnormalities, it is recommended to take the child to the hospital for treatment, and try to exclude genetic or maternal factors (such as diseases or drugs).