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Fabry's disease with familial lymphedema of the lower limbs. Case report and family study


, : Fabry's disease with familial lymphedema of the lower limbs. Case report and family study. European Neurology 18(2): 84-90

The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.

US$29.90

PMID: 37087


Other references

Tu, J.; Tuch, B.E., 1997: Expression of glucokinase in glucose-unresponsive human fetal islet-like cell clusters. Diabetologia 40(SUPPL 1): A107

Porubcinová, Z.; Hamza, F., 1983: Progressive traditions of the Department of Social Medicine at the Purkynĕ Medical School in Brno. Ceskoslovenske Zdravotnictvi 31(2): 71-76

Norman, G.W.; West, P.D.; Cowan, A.M., 2000: Survival and reproduction of eastern wild turkeys in Virginia's Tidewater Region. Little information is available on survival rates of female wild turkeys (Meleagris gallopavo silvestris) and factors limiting their reproduction in the Tidewater Region of Virginia. Recruitment data from harvested birds suggested reproduction in...

Moehler, H., 2001: Functions of GABAA-receptors Pharmacology and pathophysiology. Moehler, Hanns Handbook of Experimental Pharmacology Pharmacology of GABA and glycine neurotransmission 101-116

Balla, D.; Zigler, E., 1971: Expectancy of success and the probability learning of retarded children. Journal of Abnormal Psychology 77(3): 275-281

Beer, R.; Loeschcke, G.; Gehl, H.; Borst, H.G.; Schmidtmende, M., 1959: Pathophysiological changes with the use of extracorporeal circulation. I. Gas metabolism and acidbase equilbrium. Langenbecks Archiv für Klinische Chirurgie ... Vereinigt Mit Deutsche Zeitschrift für Chirurgie 291: 443-466

McGuire, E.J.; Appell, R.A., 1991: Collagen injection for the dysfunctional urethra. Contemporary Urology 3(9): 11-19

Schwartz, B.D., 1985: Presidential address. Responding to the challenge. Clinical Research 33(3): 367-373

Pinault, G.C.; Sanson, A.J.; Malangoni, M.A., 1998: Inhibition of xanthine oxidase does not influence immunosuppression after hemorrhagic shock. Resuscitated hemorrhagic shock causes global ischemia reperfusion with generation of toxic oxygen metabolites. We hypothesized that the immunosuppression that follows hemorrhagic shock may be linked to this process. Forty-five male Sprague-Dawley...

Bühler, H.; Miehlich, B.; Effenberger, F., 2005: Inversion of stereoselectivity by applying mutants of the hydroxynitrile lyase from Manihot esculenta. The influence of Trp128-substituted mutants of the hydroxynitrile lyase from Manihot esculenta (MeHNL) on the stereoselectivity of MeHNL-catalyzed HCN additions to aldehydes with stereogenic centers, which yield the corresponding cyanohydrins, is...