Louis-Bar's syndrome

Overview called ataxia - telangiectasia, a special type of primary immune deficiency disease, is an independent disease. Cause pathogenesis is still unclear. An autosomal recessive inheritance. As DNA repair defects, 14 pairs of chromosome translocation caused with humoral and cellular immune abnormalities, outstanding performance of thymus development obstacles, incomplete formation of the lymphatic system, skin telangiectasia mucosa, the organ can be seen megakaryocyte disease. Clinical features of sexual cerebellar degeneration, eye and skin infections and telangiectasia tendency three main symptoms. And the incidence rate equal. Infant appeared cerebellar ataxia, started main trunk and head, around the age of 10 that is not to say, the intention tremor, dysarthria, pseudobulbar palsy, nystagmus, mask-like face, and vibratory sensation subside Athetosis disease. 20 ~ 30 at the age of spinal cord involvement, deep feeling of loss, pathological reflex positive. Telangiectasia is usually in the 3-6-year-old there, all the patients found in the conjunctiva, 50% of patients were exposed skin, Occasionally auricular. 1 / 3 of patients decreased intelligence, sometimes sexual dysfunction. 60 ~ 80% infection trend, the majority of patients with malignant tumors of children. Most sick child because of repeated respiratory infections and (or) the lymphatic system tumor and died in adolescence. Low blood Waldenstrom, IgA, IgE and the lack of selectivity. Peripheral blood lymphocytes decreased. Gas cerebral angiography see cerebellar atrophy. Differential diagnosis (1) into the skull base Disease (basilar invagination) for congenital malformations. In most adult-onset, clinical symptoms and the severity of the deformity can be inconsistent, depending on progress in the slow, but the increase was sexual. Mainly hoarseness, muscle atrophy, slurring in speech, swallowing difficulties after cranial nerve symptoms, pain and pillow top, Hepatic numb legs reflection reduce or disappear, nystagmus, ataxia, and other symptoms lighter. Foramen magnum X-ray measurements on the axis odontoid position can be diagnosed. (2) cerebellar medullary congenital malformation (Arnold-Chiari malformation ) for congenital malformations. Performance of major medulla, on the symptoms of spinal cord compression, and the cranial nerves, cervical nerve root symptoms, cerebellar symptoms of nystagmus, ataxia, can be combined with intracranial hypertension levy. For the diagnosis and differential diagnosis, if the vertebral angiography, CT, MRI. (3) Multiple Sclerosis (multiple sclerosis) Refer Lhermitte's syndrome. (4) cerebellar tumor (cerebellar tumor) main complaint physically uncoordinated obstacles , voice unclear, nystagmus. Significantly reduce muscle tension, legs reflection slow or disappear, or unsteady gait, and gradually developed into not running, standing back dumping, can be accompanied by symptoms of increased intracranial pressure. CT and MRI can clearly diagnose. (5) nuclear sexually progressive supranuclear palsy (plasy ) more common in middle-aged or elderly, the course was sexual. Mainly on the performance of nuclear ophthalmoplegia, extrapyramidal muscular rigidity, dementia, paralysis and gait ball and inharmonious. Conventional tests are normal CSF also no significant abnormality. EEG slow wave irregular said, but no focal change. CT see pons and midbrain atrophy.