Marinesco - Sjögren's syndrome

Also known as outlined Garland-Moorehuse's syndrome. Type II Sjögren's syndrome, hereditary ataxia-cataract-dwarf-mental deficiency syndrome. Cause pathogenesis is still unclear. For the autosomal recessive inheritance. Likely to congenital metabolic disorder. Clinical features of cataract, ataxia, mental retardation and dwarfism. More men than women, symptoms in children learning to walk there, the course has been extremely slow. For both cataract and congenital birth four months after ~ 5 years, the disease is not specific performance, the cases are very different. Trunk, limbs, ataxia and dysarthria, nystagmus, strabismus, muscle dysplasia, muscle atrophy and decreased muscle tone. Cone beam levy progress was metamorphosed paralysis, and sometimes seizures. Intelligent performance barriers for movement and language function stunted, ranging from the severity of their disability. Guide physical abnormality, such as bad minor illnesses, genital development, and other means short. EEG and muscle biopsy myopathy change. Gas cerebral angiography see cerebellar atrophy. Differential diagnosis (1) Lowe's syndrome is a sex-linked recessive genetic, only found in normal pregnancy and delivery men. Obviously phased course, the newborn period only see cataract, in January-one-year-old inter-metabolic acidosis, urine amino acids, over a number of years away, and the remaining special appearances, cataract, glaucoma, muscle tension decreased significantly, highly intellectual barriers. EMG no specific changes. (2) Other information Louis-Bar's syndrome