Glycogen storage disease type II in children

Introduction to type II glycogen storage disease in children Glycogen storage disease type II is the cardiac glycogen accumulation syndrome, also known as Pompe disease, Pompe syndrome, disseminated glycogen cumulative cardiac hypertrophy, congenital heart rhabdomyomas, systemic glycogen accumulation neuromuscular type, Glycogen heart syndrome, etc., is a type of glycogen metabolism disorder caused by a congenital enzyme deficiency. Mainly due to the lack of acid maltase, a large amount of glycogen accumulation occurs in all tissues of the body. The main symptoms are heart failure and muscle weakness, and can die of heart failure in childhood. basic knowledge The proportion of illness: 0.0005% Susceptible people: children Mode of infection: non-infectious Complications: congestive heart failure, aspiration pneumonia, respiratory failure

Pediatric glycogen storage disease type II etiology

Genetic factors (85%):

The disease is autosomal recessive, mainly due to the lack of acid maltase (-1,4-glucosidase) in the body to cause the breakdown of muscle glycogen, causing glycogen deposition in the myocardium and skeletal muscle, affecting the heart. Contraction function produces heart failure.

Body factor (15%):

Glycogen storage disease type II (GSD-II) is caused by defects in -1,4-glucosidase (acid maltase), which is a lysosomal enzyme that acts to make oligosaccharides and glycogen Decomposes into glucose; when the enzyme is deficient, it causes a large amount of glycogen to be stored in the lysosome, and the lysosome swells to cause cell damage, thereby decomposing the decomposition of muscle glycogen, and glycogen deposition in the myocardium and skeletal muscle. A large number of glycogen are splinting, thus affecting the contractile function of the heart and producing heart failure.

The pathological examination of the disease showed that various tissues in the body were involved, and there were a large amount of glycogen storage in the liver, muscle, heart, brainstem motor nucleus and spinal cord anterior horn cells.

Pediatric glycogen storage disease type II prevention

The disease belongs to chromosomal diseases, and the cause of chromosomal abnormalities is unclear. It may have certain correlation with environmental factors, genetic factors, dietary factors, and mood and nutrition during pregnancy, so this disease cannot be directly prevented. Regular examination should be done during pregnancy. If the child has a tendency to develop abnormalities, chromosome screening should be done in time, and abortion should be performed in time to avoid the birth of the diseased child.

Pediatric glycogen storage disease type II complications Complications, congestive heart failure, aspiration pneumonia, respiratory failure

May be associated with congestive heart failure: manifested as difficulty breathing and fatigue; lower extremity edema; increased heart failure; acute pulmonary edema

Aspiration pneumonia: Clinical manifestations are related to predisposing factors and the state of the body. Inhalation of vomit can cause wheezing and coughing in the throat and bronchial irritation. Inhalation pneumonia caused by esophagus and bronchospasm. After eating, there is a coughing cough with shortness of breath. If you are unconscious, there is no obvious symptom after inhalation. However, after 1~2 hours, you may have difficulty breathing, cyanosis, and often cough. Serous foamy sputum, can carry blood. Both lungs can smell wet snoring and wheezing, severe hypoxemia, acute respiratory distress syndrome (ARDS), and can be associated with carbon dioxide retention and metabolic acidosis.

Respiratory failure: a history of bronchi, lung, pleura, pulmonary blood vessels, heart, neuromuscular or severe organic diseases.

Pediatric glycogen storage disease type II symptoms common symptoms infant feeding difficulties growth slow gait instability, loss of appetite, irritability, edema, difficulty breathing, swallowing difficulties, heart failure

The disease is divided into 3 types according to the age of onset, the main organs involved in the disease, and the severity of the disease:

1. The baby type is normal when it is delivered, and it is usually in the neonatal period. It can also appear symptoms several months after birth. It is characterized by loss of appetite, difficulty in feeding, vomiting, slow growth and development, followed by dyspnea, bruising, irritability, cough and edema. It is characterized by systemic severe muscle tension (soft infants) and reduced spontaneous movement. The sputum reflex disappeared at 4 to 5 months. Progressive weakness, almost complete flaccid paralysis. Pharyngeal salivation, coughing, and breathing are prone to pneumonia. Common giant tongue, varying degrees of heart hypertrophy, may have congestive heart failure. The electrocardiogram showed a large QRS wave and a shortened PR interval, a T wave inversion, a ST segment change, and a moderately enlarged liver. Blood sugar, blood lipids and ketone bodies are normal. Children often die of heart failure or aspiration pneumonia within 2 years of age.

2. The infant type starts slightly later, and the onset of illness in infants or early childhood is slower. In addition to muscle weakness, other organs are affected. Often with developmental retardation or gait instability as initial symptoms, then muscle weakness, difficulty swallowing, respiratory muscles are also invaded, the heart can be enlarged, but few heart failure occurs, patients often die before the age of 20 Respiratory failure.

3. Adults are more likely to develop from 20 to 70 years old. Symptoms of 30 to 40 years old are obvious. They are characterized by slow-moving systemic myopathy. The lower limbs are the heaviest. There are no heart, liver and other organs, and sometimes they are asymptomatic.

Enzyme assay with skin or fibroblasts, white blood cells, and muscle cells can confirm the diagnosis. Glycogen deposition can be seen in muscle biopsy. Unlike other glycogen storage diseases, glucose tolerance and glycogen reaction are normal, no hypoglycemia, acidosis or Ketotoxicity.

Pediatric glycogen storage disease type II examination

Serum creatine kinase, aspartate aminotransferase and lactate dehydrogenase activity increased; electromyography showed myopathy characteristics; muscle biopsy showed glycogen storage and acid phosphatase increased (indicating lysosomal enzyme compensation). The diagnosis needs to be based on the biopsy tissue or the enzymatic detection of cultured fibroblasts; the enzymatic detection of amniotic fluid cells or chorionic villus can be used for prenatal diagnosis of infants with this disease.

1. Chest X-ray examination shows that the heart is spherically enlarged.

2. The electrocardiogram shows a significant left-biased electrical axis, showing a large QRS wave and PR interval shortening, ST segment falling, and T wave inversion.

Diagnosis and diagnosis of type 2 glycogen storage disease in children

The main manifestation of muscle type should be differentiated from congenital muscle relaxation. Extreme cardiac hypertrophy and muscle weakness occur in babies who appear to be normal at birth and are highly suggestive of GSD-II. However, attention should be paid to the identification of abnormal origin of coronary arteries, acute interstitial myocarditis, especially endocardial fibroelastosis. In patients with GSD-III and IV, although the myocardium also has some abnormal structure of glycogen storage, it does not cause significant myocardial dysfunction. Liver and heart biopsy showed that lysosomal acid alpha-glucosidase deficiency is the basis for the diagnosis of GSD-II. Diagnosis of GSD-II patients can also be made by measuring muscle tissue or leukocyte enzymes. Prenatal diagnosis can be determined by measuring the enzyme in amniotic fluid cells. It has also been reported that an undiagnosed amniotic fluid cell is directly observed by an electron microscope to make a prenatal diagnosis.

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