Strong boy over 2 years old, hunched back, weight loss, high myopia, small body has suffered too much pain that shouldn't be at this age. The parents took Qiangzai everywhere to search for doctors, rushing to the ophthalmology, orthopedics, and paediatrics departments of various hospitals. What happened to this kid
?
Recently, parents took their children to seek help from Professor Yu Jialin, a well-known domestic pediatric expert and director of the Department of Pediatrics at Shenzhen University General Hospital. Based on years of experience in clinical work, Yu Jialin initially judged that the child had Marfan syndrome, which was diagnosed after genetic testing.
hunched, thin, strong boy.
has more than 2,000 degrees of myopia when he was 9 months old when Qiangzai was 9 months old. The family found that he always watched TV and looked at things differently from other children.
Qiangzi was taken by his grandparents in Meizhou, and his father works in Shenzhen. When the problem was discovered, Qiangzi's father took him to a hospital in Shenzhen to see the ophthalmology department. However, the doctor said that the child was too young to measure his vision and asked them to wait. When
was tested again after a year, Qiangzi had more than 2000 degrees of myopia, and children of this age should normally have 300 degrees of hyperopia reserve. Qiangzai's father took the child to another hospital for treatment. The examination found that Qiangzai's lens was abnormal, and the effect was not good after treatment.
In the past six months, family members have discovered that Qiangzai's walking posture is different from other children of the same age, with a slight hunchback. The family took the child to the orthopedics department of a hospital in Shenzhen. X-rays of the spine revealed that the lumbar spine was convex later.
In addition, Qiangzai has always had a bad appetite. Although he is taller than boys of the same age, he is very thin. After going to the paediatric care department of a hospital, Qiangzai was diagnosed as "malnourished and growing too fast."
repeatedly sought medical treatment in this way, but the child's condition did not improve. After many inquiries, the parents decided to ask Professor Yu Jialin, the director of the Department of Pediatrics at Shenzhen University General Hospital.
strong finger. Dr.
thinks of the "spider finger"
Yu Jialin discovered that Qiangzai had a slight hunch when he walked. After checking all the examination reports of the ophthalmology, orthopedics, and paediatrics departments outside the hospital, he had a general judgment, "This child with multiple system diseases will never be isolated. There must be an internal connection with several diseases at the same time." Based on the clinical thinking accumulated in many years of clinical practice, a genetic disease, Marfan syndrome, entered Yu Jialin's thoughts.
Marfan syndrome is an autosomal dominant genetic disease, first reported by French pediatrician Marfan in 1896. Marfan syndrome is a hereditary connective tissue disease characterized by diseases of the three major systems of bone, eye and cardiovascular. Another manifestation of
Marfan syndrome is an abnormally tall body. Yu Jialin immediately measured the height of Qiangzi. According to one measurement, the height of the child is 96cm, which is more than 90 percentiles for boys of the same age. In other words, among 100 boys of the same age, he exceeds the height of more than 90 children. But his weight is only 12.4 kg, which is close to the lower limit of the control weight of children of the same age. Look at the fingers and toes, they are longer. This is more in line with the characteristics of Marfan syndrome, which is also called "spider finger (toe)" syndrome, because the patient's fingers and toes are long, which is reminiscent of spiders.
Because Marfan syndrome often affects the heart, Yu Jialin carefully auscultated. There was no murmur in the precordial area. He immediately performed an ultrasound of the heart. It was found that the aortic sinus was widened. The pathological features of the three major systems of patients with Marfan syndrome are present in Qiangzi.
Upon questioning, the child’s parents stated that neither he nor his family had the disease. However, Yu Jialin decided to do genetic testing on the child and got the support of the parents.
One month later, the results of the whole-exome sequencing of the gene came back: from the exon regions of about 20,000 genes in the human genome, two suspected pathogenic factors on the FBN1 gene that were partially related to the subject's phenotype were detected Variation, combined with clinical manifestations, can be diagnosed as Marfan syndrome.
Strong boy's toes. The prevalence rate of
is less than one in ten thousand. Patients with
Marfan syndrome are tall and slender. Because their physical characteristics have advantages in some areas, they are also called "genius disease."
American female ranking general Hayman is also a patient with Marfan syndrome. She is tall and thin, with long fingers, and has been in the air for many years. However, she died suddenly on the court at the age of 33 because of Marfan syndrome.
"Ma FanThe incidence of the syndrome is about 0.04‰～0.1‰. Epidemiological statistics show that most patients with Marfan syndrome have a family history, but at the same time, about 15%-30% of patients are caused by their own mutations. The mutation rate is about 1/20000. "Yu Jialin introduced. The clinical manifestations of
Marfan syndrome include abnormalities in the skeletal and muscular system, eyes, and cardiovascular system, such as slender limbs, spider fingers (toes), pectus excavatum, chicken breast, kyphosis, and spine side. Convex; lens dislocation or subluxation, high myopia, cataract, retinal detachment, iris tremor; about 80% of patients are accompanied by congenital cardiovascular malformations.
Marfan syndrome generally manifests as continuous transmission or intergenerational inheritance. Doctors It is recommended that patients with Marfan syndrome should avoid strenuous exercise and overwork every day, and their family members should also be vigilant, and can do a comprehensive physical examination to diagnose the disease in time.
[trainee reporter] Liu Shan
[correspondent] Wang Zhuofen
Author] Liu Shan
Health Information Bureau
