[Tangier disease: study of the first case in Spain].
The clinical, biochemical and pathological studies of the first case of Tangier's disease that, to our knowledge, has been detected in Spain are reported. The patient had all the characteristic features of the disease: hypercholesterolemia with very pronounced reduction of plasmatic high density lipoproteins, splenomegaly, orange yellow tonsils and peripheral neuropathy. In addition, he had pneumonia and pancytopenia. Neurological examination and computed tomography suggested cerebral involvement, not previously reported in this condition. Biopsies demonstrated lipid accumulation in the reticuloendothelial cells of diverse localizations and in Schwann's cells.
Leal Luna
A
A
Blanco Vaca
F
F
Gómez Gerique
J A
JA
Pérez Gallofré
A
A
Franco Peral
M
M
Fabiani Romero
F
F
D006801:Humans; D007009:Hypolipoproteinemias / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D012583:Schwann Cells / Q000473:pathology; D013030:Spain / Q000453:epidemiology; D013631:Tangier Disease / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000473:pathology
Enfermedad de Tangier: estudio del primer caso español.