hunchback
Introduction
Introduction Thoracic and hunchback is a mannoside storage disease, and mannosidosis is a systemic disease caused by the lack of -mannosidase. The clinical features are similar to Hurler's syndrome, with no mucopolysaccharide urine, but with increased mannose-containing ingredients in the tissue.
Cause
Cause
The cause of thoracolumbar:
Genetic defects, acid alpha-mannosidase deficiency in patients is the main cause of the disease. Due to the weak back muscles and the lack of strength, the spine of the human body is arched backwards, which is caused by diseases such as old spine deformation, sitting posture or rickets, and ankylosing spondylitis.
Examine
an examination
Related inspection
Spinal MRI examination of spinal curvature, low back pain, physical examination, sitting position, flexion test
Laboratory examination: vacuoles can be seen in neutrophils, lymphocytes and bone marrow cells in the surrounding blood. Biopsy of liver tissue and other tissues, biochemical analysis showed an increase in mannoside and an acid-type -mannosidase deficiency. Mannanose-containing oligosaccharides in the urine.
Other auxiliary examinations: X-ray examination showed mild multiple bone dysplasia, lumbar vertebral dysplasia, beak-like, mild valgus of the iliac crest, hip valgus deformity, and widened ribs. The long bones of the epiphysis, backbone, metacarpal and phalanx are thickened. Skull cranial and skull base sclerosis, in some cases can occur severe scoliosis and hunchback.
Diagnosis
Differential diagnosis
According to clinical symptoms, X-ray findings, repeated infections, mental retardation, bradykinesia, liver and other tissue biopsy showed acid alpha-mannosidase deficiency and no excessive mucopolysaccharide in the urine, the disease can be diagnosed.
Congestive symptoms of thoracolumbar:
Spinal curvature: refers to one or several segments of the spine that are bent laterally from the midline of the body in the coronal plane to form a curvature of the spine, usually accompanied by rotation of the spine and kyphosis or anterior The increase or decrease of the protrusion, as well as the ribs of the ribs, the rotation of the pelvis and the abnormality of the ligaments and muscles of the paravertebral, it is a symptom or X-ray sign, which can be caused by many diseases.
Posterior spine: refers to one or more segments of the spine that are bent backwards from the midline of the body in the coronal plane to form a curvature of the spine, usually accompanied by rotation of the spine and kyphosis or anterior The increase or decrease of the protrusion, as well as the ribs of the ribs, the rotation of the pelvis and the abnormality of the ligaments and muscles of the paravertebral, it is a symptom or X-ray sign, which can be caused by many diseases.
Spinal deformity: The human spine develops faster during the embryonic period and all structures are completed within a few weeks. After the spine is formed, it has its shape and stability. The entire development process is divided into four phases. The first phase, called the spinal cord, is formed on the fifteenth day of the embryo, and the remaining part of the embryo survives, called the nucleus pulposus; the second phase is called the membranous phase, starting from the 21st day to the end of three months; the third phase is the cartilage Period, from 5 to 6 weeks to before birth; the fourth period is the skeletal period, from two months to the completion of a part of birth.
Scoliosis: means that one or more segments of the spine are bent laterally from the midline of the body in the coronal plane to form a curvature of the spine, usually accompanied by rotation of the spine and posterior process of the sagittal plane or The increase or decrease of the protrusion, as well as the ribs of the ribs, the rotation of the pelvis and the abnormality of the ligaments and muscles of the paravertebral, it is a symptom or X-ray sign, which can be caused by many diseases.
