[Corpus callosum agenesis]. / Agenesia del cuerpo calloso.

BACKGROUND: Corpus callosum agenesis (CCA) is an uncommon entity, which can be diagnosed in utero. Uncertain prognosis makes prenatal counseling difficult. AIM. We have tried to establish a positive correlation between clinical history and imaging findings in patients with CCA. PATIENTS AND METHODS: We retrospectively reviewed clinical data and imaging findings of patients with callosal agenesis diagnosed at our institution between December 1995 and September 2002. RESULTS: Eight patients with CCA were found, five males and three females. Mean age at last clinical follow up was six years and six months, ranging from three months to 20 years. All diagnoses except for one were post natal. All patients underwent, at least, one magnetic resonance (MR) of the brain. Abnormal pregnancy was reported in three patients. Family history was unremarkable in all patients. Three patients were diagnosed with isolated CCA. One of these patients was asymptomatic at three months. Another had a slight language delay at seventeen months. The other patient had a mild developmental delay at five years. All other five patients had non isolated CCA and all were symptomatic, with variable clinical pictures: psicomotor developmental delay (4), epilepsy (4), hemiparesis (1), ocular apraxia (1), macrocephaly (2). CONCLUSION: Non isolated CCA is likely to have a worse prognosis. This may be of significant value in prenatal counseling.

Agenesia del cuerpo calloso / Corpus callosum agenesis

Introducción. La agenesia del cuerpo calloso (ACC) es una enfermedad rara, susceptible de diagnosticarse en el útero, de pronóstico variable,lo que dificulta el consejo prenatal. Objetivos. El objetivo del estudio es evaluar la relación eventual entre los datos clínicos y los descubrimientos imaginológicos en pacientes con ACC. Pacientes y métodos. Se realizó el estudio retrospectivo de las historias clínicas de los pacientes con ACC diagnosticados en el Hospital Garcia de Orta entre diciembre de 1995 y septiembre del 2002. Resultados. Se encontraron ocho pacientes con ACC, cinco de sexo masculino y tres de femenino. La edad media en el momento de realizarse la última observación clínica fue de 6 años y 6 meses, y varió entre los 3 meses y los 20 años. El diagnóstico fue posnatal en siete pacientes y prenatal en un paciente; este diagnóstico incluyó, en todos los casos, un estudio por resonancia magnética (RM). Los antecedentes gestacionales se consideraron relevantes en tres de los casos. Los antecedentes familiares se consideraron irrelevantes en todos los pacientes. La ACC se consideró aislada en tres pacientes. Uno de ellos era asintomático a los 3 meses, otro presentaba un leve retraso en el lenguaje a los 17 meses y el otro, un leve retraso en el desarrollo psicomotor (ADPM) a los 5 años. En los otros cinco pacientes, la ACC se consideró no aislada. Estos pacientes eran todos sintomáticos y presentaban cuadros clínicos variados: ADPM (4), epilepsia (4), hemiparesia (1), apraxiaocular (1), macrocefalia (2). Conclusiones. Los pacientes con ACC no aislada parecen tener un pronóstico clínico peor, lo cual puede ser relevante a la hora de dar un consejo prenatal (AU)

Background. Corpus callosum agenesis (CCA) is an uncommon entity, which can be diagnosed in utero. Uncertain prognosis makes prenatal counseling difficult. Aim. We have tried to establish a positive correlation between clinical history and imaging findings in patients with CCA. Patients and methods. We retrospectively reviewed clinical data and imaging findings of patients with callosal agenesis diagnosed at our institution between December 1995 and September 2002. Results. Eight patients with CCA were found, five males and three females. Mean age at last clinical follow-up was six years and six months, ranging from three months to 20 years. All diagnoses except for one were post-natal. All patients underwent, at least, one magnetic resonance (MR) of the brain. Abnormal pregnancy was reported in three patients. Family history was unremarkable in all patients. Three patients were diagnosed with isolated CCA. One of these patients was asymptomatic at three months. Another had a slight language delay at seventeen months. The other patient had a mild developmental delay at five years. All other five patients had non-isolated CCA and all were symptomatic, with variable clinical pictures: psicomotor developmental delay (4), epilepsy (4), hemiparesis (1), ocular apraxia (1), macrocephaly (2). Conclusion. Non-isolated CCA is likely to have a worse prognosis. This may be of significant value in prenatal counseling (AU)