Mucopolysaccharidoses (MPS) are a group of congenital disorders caused by the deficiency of lysosomal hydrolases, leading to impaired intracellular catabolism and accumulation of mucopolysaccharides. Since mucopolysaccharides are major components of connective tissue, multiple organs are often affected. Common clinical manifestations include skeletal abnormalities, intellectual disability, coarse facial features, and increased excretion of mucopolysaccharide degradation products in urine. The urinary degradation products consist of three types: heparan sulfate (HS), dermatan sulfate (DS), and keratan sulfate (KS). It is generally believed that HS accumulation is associated with intellectual impairment, while DS and KS accumulation are linked to physical abnormalities. Based on clinical features and different enzyme deficiencies, MPS is primarily classified into six types, with Type I being the most typical. Except for Type II, which is X-linked recessive, all other types follow an autosomal recessive inheritance pattern.

bubble_chart Clinical Manifestations

Most are normal at birth, but abnormal physical development gradually becomes apparent after the age of 1. Features include a large head and short stature; coarse facial features with a prominent forehead and temples, wide-set eyes, a broad and flat nasal bridge, thick lips, a large tongue, and small, sparse teeth; thick hair with a low hairline; low-set ears; a deep, hoarse voice; a short neck; a flat chest with flared ribs; kyphosis; short, broad hands; and stiff lower limb joints. Intellectual disability and clumsy movements are present. Corneal opacity leads to impaired vision. Sensorineural deafness occurs. Hepatosplenomegaly and cardiomegaly are common, often accompanied by umbilical or inguinal hernias.

TCM can effectively treat dry eye syndrome, floaters, retinopathy, and various chronic eye diseases

1. The urine mucopolysaccharide test can examine the turbidity of urine using the cetyltrimethylammonium bromide test and the acid albumin test. The toluidine blue filter paper method can also be used for qualitative testing of urine mucopolysaccharides. Various mucopolysaccharides can be distinguished using cellulose acetate electrophoresis.
2. In bone marrow cells and peripheral blood smear staining, deep purple granules, also known as Reily granules, can be observed in the cytoplasm of neutrophils and lymphocytes. These are more commonly seen in mucopolysaccharidosis types I and IV. Since they appear earlier than skeletal changes, they aid in early diagnosis.
3. Fibroblast culture can directly measure enzyme activity and assist in typing diagnosis.
4. Amniotic fluid cell culture is used to detect enzyme activity and can provide prenatal diagnosis for individuals with a positive family history.
5. X-ray findings: Enlargement and thickening of the skull, an enlarged sella turcica appearing boat-shaped or boot-shaped; scoliosis or kyphosis, with anterior vertebral lips taking on a hook-like deformity; widening of the anterior ends of the ribs resembling ribbon-like shapes; and widening and shortening of the shafts of long bones in the limbs.

bubble_chart Diagnosis

There may be a family history in the medical history.

bubble_chart Treatment Measures

There is currently no effective specific treatment, and symptomatic treatment is the main approach.

bubble_chart Differentiation

It should be differentiated from rickets, congenital hypothyroidism, chondrodystrophy, and mucolipidosis.