ABNORMAL MOTOR BEHAVIOR AND DEVELOPMENTAL POSTMORTEM FINDINGS IN A FETUS WITH FANCONI-ANEMIA

Prenatal diagnosis in the third pregnancy of a mother who already had one healthy son and one son with Fanconi anaemia (FA), revealed that h er fetus was also affected with FA. At 22 weeks a maternal complaint a bout excessive fetal kicking starting at 15 weeks, focused our attenti on on the behaviour of the fetus, which was observed by means of real- time ultrasound for 30 min. The differentiation of specific movement p atterns was strongly diminished. The qualitative expression of general movements was considered to be consistently abnormal due to the fact that they were performed with large amplitudes, high speed and abrupt onsets. The incidence of general movements was within the normal range , however, the distribution in the burst-pause pattern was abnormal. P ostmortem examination showed a spongy myelinopathy of the central nerv ous system that may account for the abnormal motor activity. This comb ination of findings has not been previously reported in association wi th FA.