Increased SM accumulation
Introduction
Introduction The cumulative amount of SM was 4 to 6 times normal, and the enzyme activity was normal. Niemaoh-Pick disease (NPD), also known as sphingomyelin lipidosis, is a congenital glycolipid metabolic disease. It is manifested by an increase in the accumulation of serum mucin (SM). The lack of sphingomyelinase causes sphingomyelin metabolism disorders. The latter accumulates in the mononuclear macrophage system, with liver and splenomegaly, and degeneration of the central nervous system.
Cause
Cause
It is the result of the examination of Niemann-Pick's disease.
Examine
an examination
Related inspection
Serum mucin (SM) blood test
The lack of sphingomyelinase causes sphingomyelin metabolism disorders. The latter accumulates in the mononuclear macrophage system, with liver and splenomegaly, and degeneration of the central nervous system.
Diagnosis
Differential diagnosis
1. Acute neurotype (type A or infant type)
For the typical Niemann-Pick (85%), most of them occur within 3 to 6 months after birth, and a few occur after a few weeks or 1 year after birth. Initially loss of appetite, vomiting, feeding difficulties, extreme weight loss, dry skin is waxy yellow, progressive intelligence, exercise loss, low muscle tone, eventually become an idiot, half of the cherry erythema (cherryred spot), blindness, jaundice Liver and spleen. Anemia, dyscrasia, mostly due to infection before the age of 4 died. The skin often has a small yellow tumor-like rash with deafness. The accumulation of sphingomyelin is 20 to 60 times normal, and the enzyme activity is 5 to 10% of normal and the lowest is <1%.
2. Non-neurotype (-type or visceral)
Infants or children start to see the mountain, the disease progresses slowly, and the liver and spleen are prominent. Normal intelligence, no neurological symptoms. Can live to adults. The cumulative amount of SM is 3 to 20 times normal, the enzyme activity is 5 to 20% of normal, and the lower one is the same as type A.
3. Juvenile type (C type chronic neurotype)
More common children, a small number of children or adolescents. After birth, the development is more normal, and a few have early jaundice. Often the first hepatosplenomegaly, most of the symptoms of neurological symptoms in 5 to 7 years old (may be earlier or late in adolescence). Mental decline, language barriers, learning difficulties, emotional variability, gait instability, ataxia, tremors, muscle tension and hyperreflexia, convulsions, dementia, cherry erythema or supranuclear vertical eye muscles. Can live to 5 to 20 years old, and individual can live to 30 years old. The cumulative amount of SM is 8 times normal, and the enzyme activity is up to 50% of normal, which is also close to normal or normal.
4.Nova-scotia type (D type)
The clinical progress is slower than that of juvenile, with obvious jaundice, hepatosplenomegaly and neurological symptoms, more deaths than school age, and reduced enzyme activity.
5. Adult type
Adult onset, normal intelligence, no neurological symptoms, varying degrees of hepatosplenomegaly. Can survive for a long time. The cumulative amount of SM was 4 to 6 times normal, and the enzyme activity was normal. The lack of sphingomyelinase causes sphingomyelin metabolism disorders. The latter accumulates in the mononuclear macrophage system, with liver and splenomegaly, and degeneration of the central nervous system.
