A medical case of louis-bar syndrome in conjunction with epilepsy in adolescence
Described by French physician D. Louis-Bar, and later — by American doctors E. Boder, RP Sedgwick, the syndrome (synonym — ataxia telangiectasia) — is hereditary, and usually its onset can be marked in infancy. Most of the children suffer from psychomotor retardation. Manifestation of the disease begins with neurological symptoms: cerebellar ataxia with gait impairment, tremor of head and trunk, choreoathetosis, eyebulbs movement disorders. When a child is 2-6 year old, asymmetric telangiectasia appears on the skin and mucosa, dermatodyschromia is marked.
In addition to the lesions of skin and nervous system, Louis-Bar syndrome is characterized by combined immunodeficiency that causes a tendency ...