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Genetic diseases not only bring suffering to the child himself, but also bring great pressure to the family and society.
Yang Yang's son, who was 39 weeks old, was admitted to the hospital for "bruising and low muscle tone after birth".
Physical examination: stable breathing, response may be, asymmetrical size of both sides of the cheek, bruising of the skin of the left face and upper extremities, and scattered bleeding spots on the right upper extremities. There is no cyanosis in the lips, clear breath sounds in both lungs, normal heart sounds, 2/6 systolic murmurs can be heard between the 2nd and 3rd ribs of the left sternum, and the liver and spleen are not touched and enlarged. The limbs are slender and have low muscle tone. Right foot varus, left foot valgus. Blood glucose: 2.7 mmol/L.
After admission, the child is generally in a good condition, the bruises gradually disappear, the milk is good, but the muscle tone is low and there is no improvement, and it is found that in addition to the low muscle tone, there is also a special face: the face is narrow and long, the palate arch is high, the gums are asymmetrical up and down, the right eyelid is lifted poorly, the bulb movement of the eyes is uncoordinated, the plantar length is long, the thumb is positive for adduction, the scoliosis of the spine, the shoulder blade is abnormal, the left back is raised, the neck is soft, the limbs are soft, and the scarf sign is positive.
Cardiac ultrasound suggests: ventricular septal defect (muscle 2 mm), patent foramen oval (3 mm).
Figure 8: Palate arch height
Based on the special appearance of the child, we consider that the child does not exclude the possibility of Marfan syndrome. Family members were advised to have a chromosome test, but the family refused. After a total of 14 days of hospitalization, the child responded well, completed milk volume, and breathing steadily, but the condition of muscle tone did not improve. After being discharged from the hospital, the family complained that the child's general condition was acceptable and refused to come to the hospital for review.
About 8 months after the birth, when followed up again, the family complained of the child's death, the specific cause of death is unknown.
Regarding the son of Yang Yang, although there is no chromosomal examination to confirm the diagnosis, based on the characteristic appearance and physical examination of the child, we still suspect that Marfan syndrome is highly likely. Marfan syndrome patients are usually different from ordinary people, mostly between 1.8 meters and 2.1 meters tall, fingers and toes slender spider feet, which is like a gift from Heaven, making them a "genius" in many fields, but it seems to be a joke on them, so that this "gift" is always taken back early, and the genius falls, which is infinitely deplorable!
Sudden death, the death of an athlete
● On January 24, 1986, world women's volleyball star Heyman died of rupture of the aortic arteries of the heart caused by Marfan syndrome in a league in Japan, at the age of 31.
● In 2001, Zhu Gang, a 2.04-meter-tall Sichuan volleyball player, died suddenly of Ma Fan syndrome.
● In 2009, Wu Qiang, a 2.12-meter-tall center of Shenyang Dongjin Team, died of a sudden heart attack.
● In 2012, Zhang Jiadi, a former Liaoning men's basketball player who was only 24 years old and 2.18 meters, died of a heart attack and was ineffective, and he was also said to have MaFan syndrome.
● On October 31, 2016, Huo Xuan, who had been selected for the Chinese women's volleyball team, died in Zhengzhou due to sudden myocardial infarction and ineffective rescue, at the age of 28.
Figure 9. Fingers of Marfan syndrome in adults
Marfan syndrome is also known as congenital mesoderm dysplasia, Marchesani syndrome, spider indications, and limb elongation. It is characterized by dystrophy of peripheral connective tissue, skeletal abnormalities, inner eye disease and cardiovascular abnormalities as a genetic disorder with connective tissue as the basic defect, and this syndrome is a dominant genetic disease and is believed to be caused by abnormal development of mesodermal tissue.
The disease is autosomal dominant, in many tissues of the human body such as endocardial valves, large blood vessels, bones, etc., there are chondroitin sulfate A or C and other mucopolysaccharide accumulation, thereby affecting the structure and function of elastin and other connective tissue fibers, so that the corresponding organs are dysplasia and functional abnormalities.
Clinical manifestations
Amphoteric onset, no racial differences, more common in children, but also seen in adults, most patients have symptoms after birth, the face is old, manifested as a sad appearance, the trunk is slender and muscular, and the subcutaneous fat is thin.
1 Bone changes
Patients with this syndrome have unusually long and slender limbs, especially the fingers (toes). The trunk can be shortened due to the lateral curvature of the posterior protrusion, making the limbs appear more elongated, like spider feet, hence the name spider finger. Muscle tone is reduced, joint mobility is increased, and there may be an extraordinary range of motion, but dislocation is rare. The head is long, the frontal part is convex, the sternal deformity is mostly caused by the ribs being too long caused by the funnel breast or chicken breast is more common, and the shoulder blade bulge is wing-shaped. Systemic connective tissue abnormalities can involve the joint capsule, ligaments, tendons, and muscle membranes, which can lead to recurrent joint dislocations, flat or high arched feet, high palate arches, and ataxia of teeth.
(1) Metacarpal index: On the anterior piece of the hand after X-ray, the average length of the four metacarpal bones of the indicator finger, middle finger, ring finger and little finger is divided by the average width of the middle of the 4 metacarpal bones, and the normal human metacarpal index is less than 8, the syndrome is greater than 8.4 for males and 9.2 for females.
(2) Thumb sign: make the patient's thumb adducted, placed horizontally in the palm of the hand to straighten and clench the fist. If the extended thumb is significantly beyond the lateral edge of the hand, it is positive.
(3) Wrist signs: the patient holds the contralateral wrist with one hand at the proximal end of the contralateral radial stem, and surrounds the thumb and little finger for 1 week If the thumb and the little finger can overlap each other without pressure, it is positive.
2 Skin changes
The most common skin presents with widened or atrophic skin lines. These skin abnormalities can be seen in many parts of the body, particularly in the chest, shoulder deltoid area, and thighs.
3 Cardiovascular abnormalities
30% to 40% of patients have cardiovascular complications, the most common cardiovascular abnormalities are idiopathic dilation of the aortic artery, aortic dissection aneurysms, and mitral valve abnormalities.
Sometimes aortic and mitral valve lesions can occur at the same time. Systolic crepes with late systolic murmurs are the most common signs In addition, trauma, hypertension, and pregnancy can induce acute aortic rupture and dissection aneurysm formation.
In addition to aortic and mitral valve lesions, tricuspid valve lesions can occur from time to time. Although aortic dilation always occurs in the ascending aorta, the thoracic and abdominal aorta can also develop aneurysm-like dilation, dissection aneurysm formation, or rupture.
About 1/3 of patients may have congenital heart disease, common aortic stenosis, patent ductus arteriosus, atrial septal defects, etc., other rare cardiovascular complications such as Fowl's sinus and pulmonary artery dilation, the main branches of the aorta such as common carotid artery, splenic artery dilation, endocardial fibrofibrosis aortic aneurysm rupture and heart failure are the main causes of death of this syndrome.
4 Eye changes
The most characteristic presentation is crystal dislocation or subluxation, which is bilateral in about three-quarters of patients. Crystal dislocation can be caused by a variety of factors. Large eyes and small crystals can cause the gaps around the crystals to enlarge, the suspenoids to expand, ciliary body dysplasia, and the suspensory ligaments and their attachment to the crystals abnormally.
In addition, the syndrome may also present with ocular abnormalities such as high myopia, glaucoma, retinal detachment, and iritis. These eye lesions are more severe than the effects of lens dislocation on the eye. Sclera abnormalities appear as a blue sclera. Sometimes corneal hypertrophy, retinitis pigmentosa, choroidal sclerosis, strabismus, nystagmus, eyelid tremor, and anterior chamber shallowness can also occur.
5 Neurologic lesions
The neurologic symptoms of this syndrome, like other congenital rheumatisms, are caused by cerebrovascular malformations and manifest as epileptic seizures caused by compression symptoms aneurysms due to subarachnoid hemorrhage and internal carotid aneurysms.
In addition, patients with Marfan syndrome can also develop spina bifida, spinal bulge, and syringomyelia. Hypotonia with muscular atrophy is the most common neuromuscular symptom of this syndrome. A small number of patients may have mental retardation or dementia.
complication
1. Cardiovascular is most likely to be complicated, idiopathic dilation of the aorta, aortic stenosis, aortic dissection aneurysm and mitral valve abnormalities.
2. Eye lesions can be complicated by crystal dislocation or subluxation, high myopia, glaucoma, retinal detachment, iritis, etc.
3. Neurologic lesions can be complicated by subarachnoid hemorrhage and, internal carotid aneurysms and seizures. In addition, patients with Marfan syndrome can also develop spina bifida, spinal bulge, and syringomyelia.
Diagnosis is based
(1) Special bone changes, that is, tubular bone elongation, are especially significant in the finger and metacarpal bones. The bony cortex becomes thin, slender, and changes in the form of spider fingers;
(2) Congenital cardiovascular abnormalities;
(3) Ocular symptoms;
(4) Family history.
The diagnosis can be confirmed by 3 of the above 4 clinical criteria, and only 2 changes in the first 3 can be diagnosed as incomplete Marfan syndrome.
Cardiovascular abnormalities of Marfan syndrome are:
(1) Aortic dilation (ascending aorta, descending aorta), aortic dissectoma, aortic valve stenosis, patent ductus arteriosus;
(2) Pulmonary artery abnormalities (pulmonary artery dilation, pulmonary aneurysm);
(3) Septal defects (atrial septal defects, ventricular septal defects);
(4) Valve abnormalities and accompanied by subacute bacterial endocarditis.
The disease has a familial predisposition and is autosomal dominant. Amphoteric onset, no ethnic differences, more common in children and in adults, and its incidence is not described in other relevant content. Prognosis is good, and most patients survive to middle age, often dying from ruptured aortic aneurysms and heart failure.
In addition to the prevention of genetic diseases from the perspective of the entire population, the detection of epidemiological investigation carriers, the genetic monitoring and environmental monitoring of the population, the development of marriage and childbirth guidance, and the efforts to reduce the incidence of genetic diseases in the population and improve the quality of the population, effective preventive measures must be taken for individuals to avoid the birth of offspring of genetic diseases (that is, the implementation of eugenics) and the occurrence of genetic variations. Common measures include genetic counseling for premarital examinations, prenatal testing and early treatment of genetic diseases.
This article was first published: Pediatrics Channel of the Medical Professions
The author of this article: Li Yuelan, Department of Neonatology, Baoding Seventh Hospital, Hebei Province
Editor-in-Charge: CiCi
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