Urbach wiethe disease: five cases within one family

Urbach Wiethe disease, or lipoid proteinosis, is a rare autosomal recessive disease in persons with a normal chromosomal pattern. It is characterised by a hoarseness of voice usually first noticed when the new-born infant starts to cry. We report five typical cases, four females and one male, within one family, nine of whose members are known to be heterozygous. We found hypertriglycidemia in two cases but no severe complications