Roytta_1992_Clin.Genet_42_1

Reference

Title : Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases - Roytta_1992_Clin.Genet_42_1
Author(s) : Roytta M , Fagerlund AS , Toikkanen S , Salmi TT , Jorde LB , Forsius HR , Eriksson AW
Ref : Clin Genet , 42 :1 , 1992
Abstract :

On the Aland Islands, a 1-month-old girl was diagnosed as having Wolman disease. The diagnosis was confirmed neurochemically; a decreased activity of acid lipase was noted in the proband and her parents had typical carrier values. This is the first Scandinavian case reported. The skin biopsy revealed cytoplasmic accumulations identical to those noted in two sibs who highly probably had Wolman disease during the 1950s. Both these sibs died at the age of about 3 months and presented a heavy accumulation of lipid material in lymph nodes, spleen, adrenal glands, liver, gut, and also some pathological alterations in other organs. Electron microscopic findings from deparaffinized samples showed cytoplasmic accumulation of lipid material similar to that noted in Wolman disease. Genealogical analyses revealed that the index families had ancestors from the same restricted area and also common ancestors during the 17th century. The parents of the two affected sibs were born on a small island and were related in many different ways. On the basis of genealogical studies and other genetic investigations performed, the importance of founder and drift effect for manifestations of rare hereditary disorder in isolates is stressed.

PubMedSearch : Roytta_1992_Clin.Genet_42_1
PubMedID: 1516222

Citations formats

Roytta M, Fagerlund AS, Toikkanen S, Salmi TT, Jorde LB, Forsius HR, Eriksson AW (1992)
Wolman disease: morphological, clinical and genetic studies on the first Scandinavian cases
Clin Genet 42 :1

Roytta M, Fagerlund AS, Toikkanen S, Salmi TT, Jorde LB, Forsius HR, Eriksson AW (1992)
Clin Genet 42 :1