Síndrome de Behr. Presentación de siete casos

Abstract

To present the clinical and radiological findings of a large series of cases of Behr's syndrome. We studied 7 cases, 6 of whom were 3 pairs of siblings, with clinical alterations compatible with Behr's syndrome which were studied from clinical, genetic and biochemical points of view. In 5 cases magnetic resonance (MR) imaging was used. All patients had marked pyramidal signs, pallor, optic atrophy and normal laboratory findings in the biochemical investigations done to rule out metabolic disorders. MR showed atrophy of the cerebellum which was marked in 3 cases and moderate in 2. In the other two cases it was not used, since it was not available when those cases were studied. Behr's syndrome is not usually considered when studying a patient with ataxia associated with other pyramidal and ocular alterations, due to the theoretically diverse origins of the condition which is a syndrome, not a disease. Perhaps the presence of frank atrophy of the cerebellum may differentiate it from many other clinically similar disorders, which do not however show true cerebellar ataxia.