Incisor spacing widened

Introduction Widening of the incisors is one of the symptoms of mannosideosis type II. Mannose storage disease type II occurs more than 2 years old, physical and psychomotor development is normal, after 2 years of age, sexual brain development is delayed, frequent respiratory infections, ugly face, thick eyebrows, widening of incisors, convex jaw , before the hairline is low, there are mild bilateral deafness (mostly sensory). Some patients may have a reduction in whole blood.

Cause

Genetic defects, the acid alpha-mannosidase deficiency in patients is the main cause. The clinical features of systemic diseases caused by the lack of -mannosidase are similar to Hurler syndrome, and there is no mucopolysaccharide, but the mannose-containing component in the tissue is increased.

Normally this enzyme hydrolyzes the oligosaccharide alpha-bonded mannoside. Because the acid alpha-mannosidase is deficient in the disease, the glycoprotein cannot be decomposed, and the mannose-rich oligosaccharide is deposited in the tissue, mainly in the brain, and is excreted in the urine. The neurons in the brain are swollen and balloon-like. The sediment is the glycoprotein containing mannose.

an examination

Related inspection

Oral endoscopic oral X-ray examination

According to clinical symptoms, X-ray findings, repeated infections, mental retardation, slow movement, liver and other tissue biopsy showed acid-type -mannosidase deficiency and no excess mucopolysaccharide in the urine, etc., can be diagnosed.

1. There are vacuolar liver tissues in the neutrophils, lymphocytes and bone marrow cells in the surrounding blood, and biopsy of other tissues, biochemical analysis, showing an increase in mannoside and lack of acid -mannosidase; Oligosaccharides of mannose.

2, X-ray examination: X-ray showed mild multiple bone dysplasia, lumbar vertebral dysplasia, beak-like; humeral wing valgus, hip valgus deformity, rib widening, long boned humeral shaft The metacarpal and phalanx are thickened; the skull and the skull base are hardened, and in some cases, severe scoliosis and hunchback may occur.

Differential diagnosis

It should be distinguished from the following:

Type I or infant type is usually normal at birth. About 1 year old, there may be progressive facial ugliness, giant tongue, flat nose, large ears, wide interdental width, large head, large hands and feet, low muscle tone and slow movement of the limbs, but the degree Less than Hurler syndrome, sternal prominence, thoracolumbar, thickened skull, cornea is generally clear, but some patients have crystal opacity, some patients have deafness or language barrier at birth, mental retardation.

According to clinical symptoms, X-ray findings, repeated infections, mental retardation, slow movement, liver and other tissue biopsy showed acid-type -mannosidase deficiency and no excess mucopolysaccharide in the urine, etc., can be diagnosed.

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