Anxious! Little doll suffers from "Kabuki syndrome"

Fuzhou Evening News Looks beautiful, but it may also be a disease. Fuzhou girl Yanyan has big eyes, long eyelashes, like a doll with makeup, but her mother is worried about it. It turned out that Yeon Yeon was suffering from a rare disease, "Kabuki syndrome".

Suffering from a rare disease

Girls look special

Since birth, Yeon-yeon has been lagging behind her peers in intelligence and height. She couldn't speak when she was 4 years old, stumbled and stumbled when she walked, and always wrestled. Her mother sensed the abnormality and took her around to seek medical treatment, but the cause of the disease was never found. In November 2018, 5 and a half-year-old Yanyan visited the endocrine genetic metabolism department of Fuzhou Children's Hospital and discovered the problem.

Yesterday, Dr. Chen Ruimin, who was treating Yanyan at the time, recalled that when he first met Yanyan, he thought she looked special. Yan Yan has thick eyebrows, big eyes, long eyelashes, although 5 and a half years old, but her speech is not clear, and her height is 15 centimeters shorter than normal children, "obviously mentally low, growth and development retardation."

After detailed examination and genetic testing, Yeon Yeon was diagnosed with "Kabuki syndrome". "It's a genetic disease caused by a genetic variant, and it's rare." Chen Ruimin introduced that the children with this disease look special, and some children even look quite beautiful, but their expressions are not rich or somewhat sluggish. Their eyelashes are long and thick, their eyelids are long and slender, their lower eyelids are turned outwards, and their faces look like makeup-made flowers. It is precisely because the patient's eye characteristics are similar to the outer corner makeup of Japanese Kabuki artists that the name of the disease is called "Kabuki syndrome".

According to reports, the clinical manifestations of "Kabuki syndrome" are diverse, almost all organs and systems of the child's body, and early diagnosis is conducive to improving the quality of life of the child. For example, Yan Yan, short in stature, after ruling out contraindications, chen Ruimin began to give growth promotion therapy in December 2018. After a year of comprehensive management treatment, Yanyan's height has grown by 9 centimeters. Last month, the 8-year-old Yanyan's height has grown by 8.5 centimeters, and under the hard rehabilitation training of her parents, Yanyan's intelligence level has also improved.

It is easy to misdiagnose and miss diagnosis

It can be identified in this way

How to detect and identify "Kabuki syndrome" early? Chen Ruimin introduced that first of all, it can be identified from the face. Although the facial features of such children are diverse, the vast majority have typical features - arched eyebrows, sparse 1/3 of the eyebrows, long fissures, and 1/3 of the external valgus of the lower eyelids. In addition, it has the characteristics of a wide nose bridge, a flat nose tip, a high palate arch, a cleft palate, and a large protruding ear.

In addition to facial features, children with this disease tend to have the following features:

1. Intellectual disability. If parents find that the baby's muscle tone is low or the language and motor development is slower than that of children of the same age, they should take the baby to the doctor in time.

Second, growth retardation. It is mainly reflected in the fact that the growth rate in childhood is slower than that of normal children of the same age, and there is no sudden increase in height during puberty.

3. Skeletal deformities. Most common is the 5th finger flexion deformity. Some children also develop features such as spinal deformities, hip dislocations, and small hands and feet.

4. Abnormal skin lines. The most characteristic is that there are small protrusions in the abdomen, as if they have grown small hard cocoons. Some children also have a penetrating hand (commonly known as "broken palm") and so on.

Fifth, congenital heart disease is also an important manifestation.

In addition, some children also have other systemic malformations, such as cryptorchidism, isolated kidneys, feeding difficulties, immunodeficiency and susceptibility to infection.

Chen Ruimin reminded that the clinical manifestations of the disease in newborns and infancy are often atypical, and it is easy to miss or misdiagnose. Therefore, parents need to be highly vigilant, pay close attention to the growth and development of children, if it is found that the child has several of the above characteristics, they should take the child to the doctor in time.

(The full text totals 1188 words)

Author: Chen Dan

Source: Fuzhou Evening News