OBJECTIVE. To present the clinical and radiological findings of a large series of cases of Behr’s syndrome.

PATIENTS AND METHODS 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.

RESULTS 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.

CONCLUSIONSBehr’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.

Objetivo Presentar los hallazgos clínicos y radiológicos de una serie importante de casos de síndrome de Behr.

Pacientes y métodos Se estudian siete casos desde los puntos de vista clínico, genético y bioquímico; seis de ellos corresponden a tres parejas de hermanos, con alteraciones clínicas compatibles con las del síndrome de Behr. En cinco casos se practicó resonancia magnética (RM).

Resultados Todos los pacientes mostraron signos de piramidalismo importante, palidez, atrofia óptica y normalidad en el estudio bioquímico realizado para descartar enfermedades metabólicas. La RM reveló atrofia cerebelosa importante en tres casos y moderada en dos pacientes. En los otros dos enfermos no se practicó la prueba por haberse estudiado a los pacientes antes de utilizarse.

Conclusión El síndrome de Behr no suele tenerse en cuenta cuando se estudia un paciente con ataxia relacionada con otras alteraciones oculares y piramidales, debido a los, teóricamente, diversos orígenes del cuadro, que es un síndrome y no una enfermedad. Tal vez la presencia de una atrofia cerebelosa clara podría diferenciarlo de otros muchos trastornos clínicamente similares, pero que no cursan con verdadera ataxia cerebelosa.