Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1.

A patient with severe deficiency of beta-galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including alpha-neuraminidase, was normal. The first signs of the disease were noticed during the first month of life.

Chromosomal abnormalities in amniotic fluid cell cultures: a comparison of apparent pseudomosaicism in Chang and RPMI-1640 media.

The finding of chromosome mosaicism is one of the most difficult problems in fetal chromosome analysis. Whether the finding indicates true mosaicism or pseudomosaicism must be investigated. Studies detailing the incidence of true mosaicism and pseudomosaicism have been reported (Hsu & Perlis 1984, Bui et al.

Spino-cerebellar degeneration with polyneuropathy associated with ceroid lipofuscinosis in one family.

There are several clinically distinct forms of neuronal ceroid lipofuscinosis whose presentation and pathology are usually homogeneous within families. Several atypical variants have also been reported. We have studied an inbred sibship in which neuronal ceroid lipofuscinosis appeared to present in two completely different ways.

Oligosaccharyl diphosphodolichols in the ceroid-lipofuscinoses.

Autopsy brain samples from patients with late-infantile, juvenile and adult forms of ceroid-lipofuscinosis (CL) and cultured skin fibroblasts from juvenile CL were analyzed for the content of phosphodolichol (P-Dol) related compounds. The levels of P-Dol obtained on treatment with hot dilute acid of the chloroform-methanol (CM 2:1) extract and the chloroform-methanol-water (CMW 1:1:3) extract of the residue were estimated by high performance liquid chromatography. Compared to age-matched control individuals, the levels of P-Dol obtained in both the extracts were increased more than 6.