Amino-aciduria and hypermetabolism in progeria.

In 1886 Hutchinson described the first case of alopecia totalis congenita associated with atrophy of the skin, and in 1904 Gilford reported a similar case and described it as premature senility (senilitas praecox) or progeria. From that time to the present about 20 cases have been described in the world literature (Curtin and Kotzen, 1929; Talbot, Butler, Pratt, MacLachlan and Tannheimer, 1945; Plunkett, Sawtelle and Hamblen, 1954). Up to the present time the diagnosis has been based, in the absence of any constant biochemical findings, upon the strange external appearance which is constant and recurs in all these cases. We are presenting the following case mainly because several results were obtained during the clinical and laboratory investigations that could be used to explain some of the features of this illness.