GAPO syndrome.

Introduction. The GAPO syndrome is a rare but distinct genetic disorder. GA PO is an acronym for the manifestation of Growth retardation, Alopecia, Pse udoanodontia and Optic atrophy. The syndrome was first reported in 1947; to date, 24 cases have been reported. We report the first Tunisian case. Observation. We studied a 12 year-old boy with GAPO syndrome which was asso ciated with peculiar facial appearance, umbilical hernia, hemangiomatous pl aques of the neck, depigmented maculae arranged in a splashed pattern locat ed in the trunk and the right upper limb. He had a pulsated mass in the rig ht mastoid area and a bruit was audible, he had a pulsated mass in the righ t mastoid area and a bruit was audible, he had a second flaccid mass of the vertex. These tumefactions correspond to very developed commissure veins. Discussion. In addition to the classical manifestations of the GAPO syndrom e, the patients have a strikingly characteristic facial appearance and may also have umbilical hernia, skin redundance and prominent dilatation of sca lp veins. Our case had depigmented maculae suggestive of incontinentia pigm enti achromians. This has never been reported previously. The pathogenesis of this syndrome is unknown and inheritance is considered to the autosomal recessive.