Sjögren-Larsson syndrome

Also known as outlined Ichthyosiform Erythroderma disease, spastic paralysis on both sides of an independent disease. Cause pathogenesis is not known for common autosomal recessive genetic disease. May be caused by abnormal immune central nervous system demyelinating diseases. Clinical features of spastic paralysis, mental hypoplasia, congenital ichthyosis three levy. Neuropathy occurs in the first year after birth, as follows : two limbs or limb spasm paralysis caused difficulties walking, flexion contracture of the limbs or even, deep hyperreflexia, Babinski sign was, and often pseudobulbar palsy symptoms, It will have grand mal epilepsy, seizures and foot disease, Xu action. Different levels of IQ, a few see offensive excitement, as well as sexual impulses. Skin is the main symptoms of congenital ichthyosis, shortly after the appearance of skin redness, but not obvious when they grow up. 25% of patients with retinal degenerative macular pigment, that is, childhood visual impairment, but not blind. Have other means (toe) growth disordered, such as Road appearance. Serum cholesterol, 5-hydroxy - indole-acetic acid and histidine increased. Gas cerebral angiography see enlarged ventricle. Diagnosis (1) of cerebral palsy (defined as cerebaral) is a variety of reasons for this non-progress in the brain Damage to the syndrome, often spastic paralysis and mental retardation, such as mergers Ichthyosis differential difficulties, need to rely on the skin biopsy. (2) Usher's Syndrome to retinitis pigmentosa, mental retardation or mental illness. deafness symptoms of autosomal recessive genetic disease. Neurological symptoms can be in the form of vestibular ataxia, no spastic paralysis. (3) Rud's syndrome to cerebellar ataxia, chronic peripheral neuritis, Retinitis pigmentosa, and other symptoms of autosomal genetic diseases. Frequent Ichthyosis, cerebrospinal fluid cell protein was isolated phenomenon.