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Polysyndactyly, gelastic seizures, hypothalamic hamartoma and precocious puberty - a variant of Pallister-Hall syndrome?

Miriam da Costa Oliveira^I; Jorgea Torres Moraes^I; Liselotte Menke Barea^II; Giorgio Adriano Paskulin^III

^IDepartamento de Endocrinologia, Fundação Faculdade Federal de Ciências Médicas (FFFCMPA), 90050-170 Porto Alegre, RS, Brasil. Send correspondence to M.C.O.
^IIDepartamento de Neurologia, FFFCMPA, Porto Alegre, RS, Brasil
^IIIDepartamento de Genética, FFFCMPA, Porto Alegre, RS, Brasil

ABSTRACT

A girl with polysyndactyly presented gelastic seizures during the neonatal period. Magnetic resonance examination at two years of age revealed a hypothalamic lesion suggestive of a hamartoma. Pubic hair appeared soon after. These characteristics suggest that this is a variant of the Pallister-Hall syndrome. A conservative therapeutic course was chosen despite the poor response to anticonvulsants.

Keywords: polysyndactyly; gelastic seizures; hypothalamic hamartoma; precocious puberty; Pallister-Hall.

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