Three additional cases of the congenital hypothalamic “hamartoblastoma” (Pallister‐Hall) syndrome

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Abstract
The cause of this syndrome remains unknown. Epidemiologic studies should be done by experts. The first two cases above gave a "muddy" history for possible teratogens-a "recall bias"-one of a vaginal foam spermicide, one of exposure over several days to a heavy residue of aviation diesel fuel exhaust. We do not think these are pertinent but they do point to the problem of getting a meaningful history. In addressing this problem (in a letter of 5/27/82) R.J. Berry, M.D., medical epidemiologist, Centers for Disease Control, Atlanta, Georgia, wrote "... a designed study providing standardized interview forms with controls could be designed if cases continue to appear." Since this seems to be the case, perhaps this approach should be embraced. A teratogen(s) appears to be a good bet since the condition was recognized suddenly with the first Montana case in February, 1978. Even though no record has been found in the files of the Armed Forces Institute of Pathology, Children''s Hospital Automated Medical Programs (CHAMP), Montreal or Wisconsin and one or two other places, it might be worthwhile to look back at all cases of imperforate anus which have come to autopsy for possible associated CNS lesions. We may be deluding ourselves in considering the condition as "new". Chromosomes were usually studied in lymphocytes, once on the tumor and once or twice on marrow. It might be well to do more than one tissue in all new cases. Once again there appears to be no "obligatory" finding for any one syndrome. Iafolla et al. in their patient 2 found a "superchiasmic diencephalic nodule of mature grey matter" not clearly hamartomatous or neoplastic. Some of the malformations stem from interference with facial and midline programming and perhaps of the limbs; some come from secondary hypopituitarism and other endocrine failure and from interference with developmental field integrity. In our patient 3 the syndrome appears as well developed but secondary to another CNS disorder which compromised hypothalamic functioning and midline programming. We also support early investigation of the brain, including MRI, with a view to early, perhaps successful, intervention.