Microcefalia, opacidad corneal bilateral y holoprosencefalia lobar congénitas con desarrollo posterior de un rabdomiosarcoma en un paciente expuesto a radiación prenatal

Introduction. Most congenital malformations of which the cause is known are due to genetic or multifactorial causes or are secondary to a teratogen. Many congenital malformations are of unknown origin. However, the association of different malformations allows us to define the moment in which the noxous agent affected embryonic or foetal development. Clinical case. We present the case of a baby born after 40 weeks gestation, who had been exposed to ionising radiation before birth. Prenatal echography showed microcephaly and the karyotype was normal. The newborn baby had corneal opacities, microcephaly and complex encephalic malformations. The corneal opacity together with congenital glaucoma constitute Peters syndrome which leads to blindness, and is treated by trabeculectomy and bilateral corneal transplants. The microcephaly and lobar holoprosencephaly with agenesis of the corpus callosum led to reduced psychomotor development, hypertonia and epilepsy with an electroencephalogram recording ofhemihypsarrythmia which was unsuccessfully treated with valproate and vigabatrine. At the age of 21 months the patient developed an embryonic rhabdomyosarcoma ofthe base ofthe tongue. He died with systemic infection whilst being treated with chemotherapy. Conclusions. The association of the malformations described has not previously been reported in the international data bases. Although it was not possible to prove that prenatal exposure to radiation caused the clinical condition described, the possibility of teratogenesis and carcinogenesis following such exposure means that pregnant women or those who may be pregnant should not be in places where radiodiagnosis is carried out.