Children who are more than two years old can only see it when they watch TV. They have a feeling of hunchback and have a poor appetite. They have been losing weight... Parents took their children to the ophthalmology, orthopedics, and paediatrics departments of various hospitals. What happened to this child? Recently, the parents brought their children to Shenzhen University General Hospital. Professor Yu Jialin, the director of the Pediatrics Department, based on the clinical thinking and knowledge accumulated over many years of clinical work, initially judged the child as Marfan syndrome and was diagnosed after genetic testing.
▲ Qiangzi is tall but thin
Child is more than 2,000 degrees nearsighted at 1 year old
Qiangzi (pseudonym) is born larger than ordinary children, 55 cm in length and 4.45 kg in weight. But his growth path was not smooth. When he was 9 months old, his family found that he always moved forward watching TV. Later, my father took the child to a major hospital in Shenzhen to see the ophthalmology department, but the doctor said that the child was too young to measure his vision. After a year of re-testing, Qiangzai had more than 2000 degrees of myopia, and children of this age should normally have 300 degrees of hyperopia reserve. Later, 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, his family has discovered that Qiangzai's walking posture is different from that of other children of the same age, slightly hunched. After going to the orthopedics department of a hospital in Shenzhen, it was found that the lumbar spine was convex later. In addition, Qiangzai has always had a poor appetite. He was significantly taller than boys of the same age, but he was very thin and was diagnosed as "malnourished and growing too fast."
is tall and thin with long fingers and toes
repeatedly seeks medical advice, but the child's condition has not improved. Recently, the family brought their children to the Department of Pediatrics, Shenzhen University General Hospital, and found Professor Yu Jialin. Yu Jialin looked at all the examination reports of the Department of Ophthalmology, Orthopedics, and Pediatrics. He roughly had a judgment that this child's multi-system disease would not be suffering from several diseases in isolation at the same time. There must be an internal connection. Based on the clinical thinking accumulated in many years of clinical practice, Yu Jialin began to consider the genetic disease of Marfan syndrome.
▲ Qiangzai's fingers are too long.
Marfan syndrome is an autosomal dominant genetic disease, first reported by French pediatrician Marfan in 1896. Marfan syndrome is a hereditary connective tissue disease, which is mainly characterized by diseases of the three major systems of bones, eyes, and cardiovascular. This disease is also called "spider finger (toe)" syndrome. The cause is the patient's fingers and toes. They are all too long, and they are unusually tall. It is also called "genius disease" because of its advantages in some fields.
Yu Jialin surveyed and found that Qiangzai's height is 96cm. More than 90% of boys of the same age have longer fingers and toes. This is more in line with the characteristics of Marfan syndrome. Because Marfan syndrome often affects the heart, Yu Jialin found "widened aortic sinus" by echocardiography. The pathological features of the three major systems of patients with Marfan syndrome are present in Qiangzi.
Upon questioning, the parents of the child said that neither he nor his family had the disease, but Professor Yu decided to perform a genetic test on the child and received the support of the parents. One month later, the whole exome sequence of the gene came out, and the diagnosis was Marfan syndrome. The disease is the same as a common genetic disease, and there is no cure, only symptomatic treatment.
The prevalence of Marfan syndrome is less than one in ten thousand
According to Yu Jialin, the incidence of Marfan 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. This self-mutation rate is about 1/20000. The clinical manifestations of
Marfan syndrome include abnormalities in the skeletal muscle system, eyes and cardiovascular system, such as slender limbs, spider fingers (toes), pectus excavatum, chicken breast, kyphosis, scoliosis; crystal-like Dislocation or subluxation, high myopia, cataract, retinal detachment, iris tremor; about 80% of patients are accompanied by congenital cardiovascular malformations. Patients with Marfan syndrome should avoid strenuous exercise and excessive fatigue.
Marfan syndrome generally manifests as continuous inheritance or intergenerational inheritance. Families of patients with Marfan syndrome should also be vigilant and can do a comprehensive physical examination to diagnose the disease in time.
Shenzhen Evening News reporter Zhou Qian Correspondent Wang Zhuofen
