What are the symptoms of mucopolysaccharidosis type III?

summary

This type, also known as Sanfilippo syndrome, is an autosomal recessive hereditary disease. The clinical features and biochemical abnormalities of this type are different from those of type I and type II. It is characterized by severe unresponsiveness, but mild peripheral lesions. The difference between type I and type I is that the appearance is not like Chengyu disease, the dwarfism is not obvious, and there are no complications such as corneal opacity or heart disease. There was slight contracture of elbow and knee joint. Even if there is hepatosplenomegaly, it is very mild. What are the symptoms of mucopolysaccharidosis type III? Let's talk about it now.

What are the symptoms of mucopolysaccharidosis type III?

Progressive mental retardation is the most prominent feature of the disease. Mental retardation usually occurs at the age of 4-7, and is very serious at the age of 10. In the progressive aggravation of mental retardation, progressive neurological symptoms may appear, such as wind, excessive exercise, spastic quadriplegia, general weakness, aggressive behavior, etc., which are the most prominent symptoms of the disease.

Only 1 / 4 of the patients showed short stature. Most of the patients showed normal facial manifestations, while a few patients showed large head, ugly face, abdominal distention, progressive deafness, joint stiffness and claw like hand flexion. The only bone changes were multiple osteogenesis imperfecta and dense and thickened posterior parietal bone. These changes have a certain degree of specificity in the diagnosis of this disease. Hepatosplenomegaly was mild to moderate without corneal opacity. There was no cardiac involvement.

Glycogen accumulation disease (GSD) is a group of inherited disorders of glycogen metabolism in children. It is characterized by excessive accumulation of glycogen in body tissues and difficulty in decomposition. Glycogen anabolism is rarely found, resulting in less glycogen storage in body tissues. Glycogen storage disease is not a disease, but a group of diseases. At present, 12 species have been identified. Hypoglycemia is the main clinical feature. The organs involved are liver, kidney and skeletal muscle. Most of them are inherited by autosomal recessive inheritance, and most of them are in childhood. Some patients can maintain their general health after reaching adulthood.

matters needing attention

The parents of many patients are close relatives, so avoiding close relatives marriage is an important step to prevent the disease. Once glycogen accumulation disease is found, prevention and treatment of hypoglycemia should be given priority to. Those with high serum lactic acid should take sodium bicarbonate to prevent acidosis. Corticosteroids, adrenaline and glucagon can help control hypoglycemia.