Appearance gradually becomes rough
Introduction
Introduction Gradually becoming thicker refers to the patient's rough and faint changes in the appearance of the patient during the development process due to bone lesions. Gradually becoming bulky is one of the typical manifestations of mucopolysaccharidosis type I. It is a group of hereditary mucopolysaccharide metabolic disorders caused by lysosome abnormalities. The common clinical features of congenital rheumatism caused by the deficiency of enzyme activity and the incomplete decomposition of glucosamine are the varying degrees of osteophyte changes. , mental retardation, visceral involvement and corneal opacity; biochemical characteristics are acid mucopolysaccharide catabolism defects such that the accumulation of excessive mucopolysaccharide in the cells and excessive mucopolysaccharide in the urine.
Cause
Cause
The cause is autosomal recessive inheritance.
Examine
an examination
Related inspection
X-ray lipiodol contrast urine routine blood C-myc gene (C-myc) K-ras gene detection (K-ras, p21)
When the child is born, his appearance is still normal, but he can quickly show that the movement and mental development are backward to 1 to 2 years old, which can clearly reveal the characteristics of the disease. The child's appearance gradually became rough, the nose was wide and flat, the eye distance was wide, the lip was thick, the tongue was large, and the ear was low and the teeth were small and sparse. The skin has thicker hair and longer eyebrows. The head circumference increases the sagittal suture and the anterior and posterior diameter increases (scapular head), occasionally the hydrocephalus of the hydrocephalus is severely deformed, the fingers are short and short, and the spine is bent backward. The joints gradually contracted and straightened, and the fingers were fixed in the semi-flexion position, and the claws were short.
Diagnosis
Differential diagnosis
Clinically, it is often identified with type IV mucopolysaccharidosis. The main manifestation of type IV of mucopolysaccharidosis is that it is generally found in 4 to 5 years of age due to difficulty walking and spinal deformity. The short stature is mainly because the spine becomes shorter and the limbs are relatively long, and the hand can reach the knee when standing. The joints are swollen, with the wrist and knees in a spherical shape. However, there is no joint stiffness of type I and II of mucopolysaccharidosis. Knee varus, flat feet, knee joints and hip joint deformities on both sides, forming a semi-squat posture. The wrist, hand, ankle, and toe joints are hyperactive due to muscle ligament relaxation. These external deformities have special diagnostic significance. The intelligence is normal, the facial changes to the collapse of the bridge of the nose, the distance between the two eyes is widened, and the teeth are not neat. Hepatosplenomegaly is rare. The age of onset of corneal opacity is later than that of mucopolysaccharidosis type I, and obvious symptoms usually appear around 10 years old. Aortic regurgitation often occurs around the age of 10 and its incidence increases with age. However, most patients die before the age of 20.
When the child is born, his appearance is still normal, but he can quickly show that the movement and mental development are backward to 1 to 2 years old, which can clearly reveal the characteristics of the disease. The child's appearance gradually became rough, the nose was wide and flat, the eye distance was wide, the lip was thick, the tongue was large, and the ear was low and the teeth were small and sparse. The skin has thicker hair and longer eyebrows. The head circumference increases the sagittal suture and the anterior and posterior diameter increases (scapular head), occasionally the hydrocephalus of the hydrocephalus is severely deformed, the fingers are short and short, and the spine is bent backward. The joints gradually contracted and straightened, and the fingers were fixed in the semi-flexion position, and the claws were short.
