Mucopolysaccharidosis type IV in children?

summary

Mucopolysaccharidosis (MPS) is a group of congenital genetic diseases. Due to the lack of mucopolysaccharide degrading enzyme, acidic mucopolysaccharide can not be completely degraded, resulting in the accumulation of mucopolysaccharide in different tissues of the body, resulting in a series of clinical symptoms and signs, such as skeletal deformity and intellectual impairment. Let's share my experience with you.

Mucopolysaccharidosis type IV in children?

Both men and women can get the disease, normal after birth, obvious clinical symptoms after one year old, bone changes and growth disorders are the most prominent. It is characterized by flat vertebrae, genu valgus, thoracolumbar kyphosis, short trunk and deformity of limbs and chest. At the age of 6 years old, the growth was stagnant and appeared dwarf, with short neck, short hands and feet, wide fingers, some joint ligaments relaxed, and joint movement beyond the normal range.

Spinal curvature and rib deformity, increased anterior and posterior diameter of chest, barrel chest with chicken breast and short neck. When standing, shrink your neck and lean forward. Knee, foot valgus, hip, knee flexion, such as climbing. It's difficult to extend the spine. Abdominal distention, metaphyseal hypertrophy, limited joint movement.

Some joints move beyond the normal range because of ligament relaxation. The muscle strength is weak, the limbs are weak, and the walking is duck step. The characteristic facial features of normal or mild mental retardation were wide eye distance, saddle nose, wide mouth, gap between teeth, enamel dysplasia and maxillary protrusion. Corneal opacity and hepatosplenomegaly may also occur. Hearing impairment begins around 10 years old, and almost all of them are over 30 years old. Cardiac complications due to chest deformities have been reported. May have the obvious myelopathy symptom, develops for the four limbs paralysis. Abdominal distention, liver and spleen is not big.

matters needing attention

Amniocentesis during pregnancy: ① mucopolysaccharide increased in amniotic fluid (but it had no diagnostic significance before 16 weeks of gestation); ② After amniotic fluid cell culture, the analysis of fibroblasts can make early diagnosis and early termination of pregnancy.