Fabry's disease: An ultrastructural study of nerve biopsy

被引：4

作者：

Gayathri, N. ^{[1
]}

Yasha, T. C.

Kanjalkar, Makarand ^{[2
]}

Agarwal, Santosh ^{[3
]}

Sagar, B. K. Chandrashekar

Santosh, Vani

Shankar, S. K.

机构：

[1] Natl Inst Mental Hlth & Neurosci, Dept Neuropathol, Electron Microscope Lab, Bangalore 560029, Karnataka, India

[2] Manik Hosp & Res Ctr, Garkheda, India

[3] Sushila Netralaya, Aurangabad, Maharashtra, India

来源：

ANNALS OF INDIAN ACADEMY OF NEUROLOGY | 2008年 / 11卷 / 03期

关键词：

angiokeratomas; Fabry's disease; lamellated inclusions;

D O I：

10.4103/0972-2327.42939

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Fabry's disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A(alpha-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed by electron microscopy lamellated inclusions in the smooth muscle, perineurial and endothelial cells characteristic of Fabry's disease.

引用

页码：182 / 184

页数：3

共 50 条

[41] Fabry's disease
Andrikos, A.
ARCHIVES OF HELLENIC MEDICINE, 2009, 26 (01): : 63 - 69
[42] Fabry's disease
El-Abassi, Rima
Singhal, Divya
England, John D.
JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 344 (1-2) : 5 - 19
[43] Fabry's disease
Weidemann, F.
Stoerk, S.
Sommer, C.
Uceyler, N.
Ertl, G.
Wanner, C.
Kraemer, J.
KARDIOLOGE, 2015, 9 (03): : 265 - 274
[44] The Fabry's disease
Torra, R
Ballarín, J
NEFROLOGIA, 2003, 23 : 84 - 89
[45] Fabry's disease
Maire, Irene
Belmatoug, Nadia
PRESSE MEDICALE, 2007, 36 (01): : 69 - 69
[46] Fabry's disease
Kopp, JB
Schiffmann, R
NEW ENGLAND JOURNAL OF MEDICINE, 2003, 349 (21): : E20 - E20
[47] PERIPHERAL-NERVE CONDUCTION IN FABRY DISEASE
SHETH, KJ
SWICK, HM
ANNALS OF NEUROLOGY, 1980, 7 (04) : 319 - 323
[48] ULTRASTRUCTURAL STUDY OF A NERVE AND MUSCLE BIOPSY FROM A CASE OF SUBACUTE-MYELO-OPTICO-NEUROPATHY
MIYAKAWA, T
SUMIYOSHI, S
MURAYAMA, E
DESHIMARU, M
ISHIKAWA, H
MIYAKAWA, K
TATETSU, S
ACTA NEUROPATHOLOGICA, 1970, 16 (01) : 17 - +
[49] Chronic inflammatory demyelinating polyneuropathy:: Immunopathological and ultrastructural study of peripheral nerve biopsy in 42 cases
Vital, C
Vital, A
Lagueny, A
Ferrer, X
Fontan, D
Barat, M
Gbikpi-Benissan, G
Orgogozo, JM
Henry, P
Brechenmacher, C
Bredin, A
Desbordes, P
Ribière-Bachelier, C
Latinville, D
Julien, J
Pétry, KG
ULTRASTRUCTURAL PATHOLOGY, 2000, 24 (06) : 363 - 369
[50] SKIN AND NERVE IN HANSEN DISEASE - AN ULTRASTRUCTURAL-STUDY OF 5 CASES
BIOULAC, P
VITAL, C
BEYLOT, C
DOUTRE, MS
JOURNAL OF CUTANEOUS PATHOLOGY, 1981, 8 (02) : 162 - 163

← 1 2 3 4 5 →