Mucopolysaccharidosis type IV?

summary

This type, also known as Hunter syndrome, was first described by Hunter (1917). Wolff (1946) reported the first X-linked Hunter syndrome family. Mekusick (1965) classified this type as mucopolysaccharidosis type II according to its clinical features, biochemical abnormalities and genetic mode. It belongs to sex linked recessive inheritance and only occurs in men. The patient's mother is a carrier but does not develop the disease. Let's share my experience with you.

Mucopolysaccharidosis type IV?

The clinical symptoms of this type are similar to those of type I, but they are mild and the progress of the disease is slow. Most of them were normal at birth. From the age of 2 years old, they began to develop backward, and their bones and faces showed mild huller syndrome, but it was mild, occurred late and progressed slowly.

There may be ankylosis, claw like hand, short and small, but no kyphosis. The skin is wrinkled or nodular thickening, especially in the upper limbs and chest, sometimes symmetrical and hairy. The cornea was not turbid, but in the late stage, it was slightly turbid by slit lamp examination. Can be due to retinal degeneration and blindness. There is often progressive deafness. Hepatosplenomegaly, often with chronic diarrhea.

Snoring is often accompanied by chronic respiratory tract infection. Pulmonary hypertension and coronary artery infarction are also common. Heart enlargement is often accompanied by systolic and diastolic murmurs. Severe mental retardation was more obvious.

matters needing attention

At present, there is no effective treatment. Various experimental treatments have been carried out, but the effect is uncertain. Glucocorticoid can inhibit the synthesis of mucopolysaccharide in mice, but the patient took prednisone 2 mg / kg every day without clinical effect. A large amount of vitamin A added to the cultured fibroblasts of mpsi-h and type II patients can make their metachromatic disappear.