Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly


it is possible. We have seen nine patients with radiologically confirmed AH. At evaluation, four were infants (one since deceased), two were between 1 and 2 years of age, and three were between 10 and 14 years old (one since deceased). In addition, we sponsor a parent network through which families contact us for advice and information. Through this system we do not examine the children, and in most cases do not confirm their diagnosis by brain scan. However, through this network, by parent report, we have learned of nine patients who have survived beyond the age of 6 years (ages 9, 10, 10, 11, 11, 15, 15, 16, and one deceased at age 10). It is, of course, important to stress that these cases have not been radiologically confirmed by us, and indeed we have learned that approximately 25% of patients referred to our clinics with the diagnosis of HPE do not prove to have it upon our radiologic review. But it does suggest that long-term survival with AH is certainly possible. We would also like to comment on the author’s statement that “in alobar holoprosencephaly epilepsy is typically an early and severe manifestation of the syndrome.” Our experience has not borne this out. Thus far, we have extensive clinical information on eight of the nine children described above in whom we have confirmed AH. Of these eight, only four have seizures. Of these four, two had early-onset, difficult-to-control seizures, and two had later onset, easy-to-control seizures. We are about to begin a study of EEG findings in children with HPE, to see whether we can correlate findings with the likelihood of having seizures. We would like to suggest that Veneselli et al.’s experience with their 6-year-old, and our experiences with our patients illustrate that just as there is a well-described continuum of brain and facial malformation in HPE, there is also a continuum of clinical findings. Indeed, this continuum exists within the subgroups of HPE (alobar, semilobar and lobar) as well as between them.

DOI: 10.1007/s003810050494

Cite this paper

@article{Plawner2000ProlongedSA, title={Prolonged survival and childhood-onset epilepsy in alobar holoprosencephaly}, author={Lauren L. Plawner and Nancy J. Clegg and Stephen L Kinsman and M {\'A}ngeles Delgado}, journal={Child's Nervous System}, year={2000}, volume={16}, pages={195-195} }