Md. Oliveira et al., POLYSYNDACTYLY, GELASTIC SEIZURES, HYPOTHALAMIC HAMARTOMA AND PRECOCIOUS PUBERTY - A VARIANT OF PALLISTER-HALL SYNDROME, Brazilian journal of genetics, 19(2), 1996, pp. 339-342
A girl with polysyndactyly presented gelastic seizures during the neon
atal period. Magnetic resonance examination at two years of age reveal
ed a hypothalamic lesion suggestive of a hamartoma. Pubic hair appeare
d soon after. These characteristics suggest that this is a variant of
the Pallister-Hail syndrome. A conservative therapeutic course was cho
sen despite the poor response to anticonvulsants.