Neurofibromatosis is an autosomal dominant disorder of the peripheral and central nervous system characterized by abnormal proliferation of neural crest cells, which can occur in both children and adults and is clinically more common. The clinical manifestations are mainly involving the bones, skin and soft tissues. There are two types of neurofibromatosis: neurofibromatosis type I (nf. 1, also known as peripheral type) and neurofibromatosis type II (nf. 2, also known as central type).
1 often involves the skeleton and has a variety of clinical manifestations. nf I 2 is dominated by bilateral auditory neuroma manifestations and rarely involves the skeletal system. Scoliosis is the most common manifestation of nf.1 involving the skeletal system, with an incidence of 10% to 60%.
The incidence is 10-60%. Although this condition is clinically uncommon, it is often an important factor in causing severe lateral kyphosis. If not treated properly, it can cause neurological and cardiopulmonary disabilities. Li Ming, Department of Crestal Surgery, Shanghai Changhai Hospital Etiology and typology 1. Neurofibromatosis (nf1), also known as von
recklinghausen disease is a common genetic disease that affects one out of every 3,000 to 4,000 people. The disease varies from person to person, and in general, most patients are only mildly affected, while a few are more severely affected. To date, there is no way to determine the severity of the disease, and the condition can vary even within the same family.
Hereditary patterns. In normal people, there are about 100,000 genes that are inherited by each person.
The patient has a 50/50 chance of having the abnormal gene in his or her body. There is a 50-50 chance that the patient will pass on the abnormal gene to his or her children, so the patient’s family should also be examined by a doctor to determine if there is an abnormal gene. Prenatal diagnosis can be done by genetic linkage analysis if there are multiple patients in the family. Some patients with neurofibromatosis do not have a family history, because only
This is because only 50% of the patients have inherited the disease from their parents. 50% of the patients are caused by spontaneous genetic mutations. 2.Typing. According to its natural development history and the morphology of scoliosis, it can be divided into non-dystrophic type (nodystrophic) and dystrophic type (
dyotrophic). The non-dystrophic type has an imaging presentation similar to idiopathic scoliosis, so it is also called idiopathic-like. Treatment is basically the same as for idiopathic scoliosis. In dystrophic scoliosis, fewer vertebrae are involved, and the lateral and posterior angles are sharper. The differences in treatment and prognosis are significant. It is important to carefully analyze the type of scoliosis before surgery.
The diagnosis of neurofibromatosis scoliosis is usually based on the criteria established by the National Institutes of Health in 1987 (neurofibromatosis type 1 scoliosis is diagnosed in the presence of 2 or more of the following criteria): 1. 6 or more cutaneous café au lait spots with a diameter of 5 mm or greater in pre-mature patients or greater than 15 mm in post-mature patients 2. 2 or more neurofibromas of any form or cutaneous plexiform neurofibroma. 3. axillary or inguinal cutaneous freckling 4. optic glioma 5. more than two scleral misshapen tumors (lisch nodes) 6. more unusual skeletal lesions, such as butterfly cones, long bone cortical thinning, and pseudarthrosis; 7. immediate family history of nf-1 disease. (A) Medical history 1. Early detection : Coffee spots on the skin of trunk or limbs, but easily ignored by family members. Scoliosis of the crest is mostly unintentionally detected by parents or teachers for the first time, showing unequal height of both shoulders and unilateral scapulae protruding backward. 2.Clinical symptoms
The main symptom at the first consultation is the bending of the crest to one side, and there are also asymmetries of the trunk when standing, such as unequal height of both shoulders, backward protrusion of one scapula, and asymmetry of the anterior chest. Severe scoliosis can lead to thoracic collapse, trunk imbalance, trunk shortening, decreased endurance due to decreased thoracic volume, shortness of breath, palpitations, etc. A few patients may experience low back pain. Scoliosis of the crest in some patients is unintentionally discovered and the deformity can be inconspicuous. 3. Family history : Because the disease is hereditary, most parents have a history of neurofibromatosis. 4. Personal history
: A detailed personal history can help determine the natural course of scoliosis, for example, to understand the age of onset and progression of scoliosis. Neurofibromatosis can develop at any age, and scoliosis continues to develop even after growth and development have ceased. (b) Physical examination 1. 6 or more cutaneous café-au-lait spots of more than 5 mm in diameter in pre-mature patients or more than 15 mm in post-mature patients. 2. 2 or more neurofibromas of any form or cutaneous plexiform neurofibromas. 3. Skin freckling in the axilla or groin. The x-ray presentation of non-dystrophic scoliosis is similar to that of idiopathic scoliosis, but has an earlier onset and worse prognosis than idiopathic scoliosis. In dystrophic scoliosis
The x-ray shows marginal scraping of the vertebral body, fusiform enlargement of the transverse processes, paravertebral soft tissue tumors, enlarged intervertebral foramina, poorly developed pedicles, widened pedicle spacing, possible subluxation or complete subluxation of the vertebral body, and pencil-clamp-like ribs. The crest may be severely angularly deformed and distorted, i.e., lateral kyphosis. Rotation of the deformed vertebrae is often severe.