Pediatric angiokeratoma syndrome

Introduction to pediatric vascular keratomas syndrome Vascular keratomas syndrome is diffuse vascular keratin (angiokeratomacorporisdiffusm), also known as Fabry syndrome (Fabryssyndrome), Anderson-Fabry syndrome, Sweeley-Klionsky syndrome, Ruiter-Pompen syndrome, diffuse systemic vascular keratoma glycolipid Sedimentary disease, hemorrhagic sarcoidosis, etc., this disease is a hereditary joint disease caused by -galactosidase deficiency, which is manifested by ceramide trihexosides in various tissues of the body, especially in the endothelium of blood vessels. Deposition in the skin and smooth muscle cells, and the involvement of the reticuloendothelial cells is relatively light, causing a series of clinical manifestations. The disease is mostly male, and the female is a carrier of pathological genes. basic knowledge The proportion of sickness: 0.003%-0.005% Susceptible people: children Mode of infection: non-infectious Complications: hemiplegia aphasia

Causes of pediatric vascular keratomas syndrome

(1) Causes of the disease

This disease is a hereditary joint disease. Due to the lack of ceramide trihexose--galactosidase, ceramide trihexosides are deposited in various tissues of the body, and the deposits are mainly found in the vascular endothelium and kidney.

(two) pathogenesis

Normally, ceramide trihexose--galactosidase is present in the liver, kidney, brain, and spleen, and is most abundant in the small intestinal mucosa. When the enzyme is deficient, ceramide trihexosides are accumulated in the body, and the latter comes from Aging red blood cells, sediments are mainly found in the vascular endothelium and kidneys. The endothelial and smooth muscles of the systemic blood vessel wall have glycolipid deposition, vascular lumen stenosis, renal and glomerular epithelium with glycolipid deposition, and cerebral and peripheral nervous system also have vascular changes, nerves. The Yuan itself also has a small amount of deposition, and even deposits in the myocardium, muscle, liver, spleen, bone marrow, lymph nodes, and cornea, causing dysfunction.

Pediatric vascular keratoma syndrome prevention

In this disease, a hereditary disease should be identified as a carrier of the gene, to make a prenatal diagnosis, and to terminate the pregnancy if necessary.

Complications of pediatric vascular keratoma syndrome Complications hemiplegia aphasia

Can be complicated by renal failure; cerebrovascular embolism, causing hemiplegia, aphasia, convulsions; may have endocrine abnormalities and so on.

Symptoms of pediatric vascular keratoma syndrome Common symptoms High fever sweating Reduce repeated fever Abdominal pain Pap diarrhea Eyelid edema Kidney failure Chronic corneal opacity

Childhood or puberty onset, the earliest is 6 years old, may have repeated fever, reduced sweating, limbs burning abnormal sensation, acromegaly and renal failure, and even cerebrovascular embolism, lesions mainly in the lower abdomen, thighs and scrotum There is a small red spot in the site, which is papular-like purpura. There are many neurological symptoms. The peripheral nerve, the posterior root, and the posterior horn of the spinal cord cause paroxysmal burning pain and paresthesia in the extremities. The autonomic nervous system is involved and there is paroxysmal abdominal pain. , vomiting, diarrhea, less sweat, high fever; cerebrovascular wall involvement can cause hemiplegia, aphasia, convulsions and other focal symptoms; pituitary, subthalamic involvement may have endocrine abnormalities, eye symptoms are more common, retinal blood vessels and eyes Combined with membrane vasoconstriction, corneal opacity, eyelid edema, severe visual acuity, kidney, heart, lung, bone and joint can appear corresponding symptoms.

Examination of pediatric vascular keratoma syndrome

In the early stage of urine, proteinuria, vacuolating cells containing glycolipids, tuberculous hematuria, isotonic urine, anemia in the late stage, hyperammonemia, and 40 m-sized cells containing most vacuoles can be seen in the bone marrow. A pediatric patient with a morphology similar to Niemann-Pick cells and no rash should be differentiated from collagenous diseases such as rheumatic fever. The tissue from the small intestinal mucosa biopsy can be used for enzyme assay, and the enzyme activity can be measured by plasma and white blood cells. Fluorescence - studied in recent years An artificial matrix of galactosidase, which can be used for enzyme assay of leukocytes and skin fibroblasts, and for the determination of glycolipids in urine sediments to diagnose this condition, leukocytes, fibroblasts, urine or plasma alpha-galactoside The lack or disappearance of enzymes has a unique diagnostic significance.

Should be X-ray, bone, B-ultrasound, EEG, brain CT examination.

Diagnosis and diagnosis of pediatric vascular keratomas syndrome

The diagnosis of typical symptoms of this symptom is not difficult.

Differential diagnosis

1, can be complicated by renal failure.

2, cerebrovascular embolism, can cause hemiplegia, aphasia, convulsions.

3. Endocrine abnormalities.

4, other organ damage, such as liver, spleen and other functional damage.

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