Abstract
The case of a 49-yr-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 deceased brothers of the patient were also affected with symptoms strongly suggesting FD, as well as with 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 in 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 closely associated with the FD gene on the same chromosome can also be advanced.
| Original language | English |
|---|---|
| Pages (from-to) | 84-90 |
| Number of pages | 7 |
| Journal | European Neurology |
| Volume | 18 |
| Issue number | 2 |
| Publication status | Published - 1979 |
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ASJC Scopus subject areas
- Clinical Neurology
Cite this
Fabry's disease with familial lymphedema of the lower limbs. Case report and family study. / Gemignani, F.; Pietrini, V.; Tagliavini, F.; Lechi, A.; Neri, T. M.; Asinari, A.; Savi, M.
In: European Neurology, Vol. 18, No. 2, 1979, p. 84-90.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Fabry's disease with familial lymphedema of the lower limbs. Case report and family study
AU - Gemignani, F.
AU - Pietrini, V.
AU - Tagliavini, F.
AU - Lechi, A.
AU - Neri, T. M.
AU - Asinari, A.
AU - Savi, M.
PY - 1979
Y1 - 1979
N2 - The case of a 49-yr-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 deceased brothers of the patient were also affected with symptoms strongly suggesting FD, as well as with 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 in 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 closely associated with the FD gene on the same chromosome can also be advanced.
AB - The case of a 49-yr-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 deceased brothers of the patient were also affected with symptoms strongly suggesting FD, as well as with 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 in 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 closely associated with the FD gene on the same chromosome can also be advanced.
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UR - http://www.scopus.com/inward/citedby.url?scp=0018772331&partnerID=8YFLogxK
M3 - Article
C2 - 37087
AN - SCOPUS:0018772331
VL - 18
SP - 84
EP - 90
JO - European Neurology
JF - European Neurology
SN - 0014-3022
IS - 2
ER -