The McLeod syndrome without acanthocytes

被引：13

作者：

Klempir, Jiri ^{[1
]}

Roth, Jan ^{[1
]}

Zarubova, Katerina ^{[2
]}

Pisacka, Martin ^{[3
]}

Spackova, Natasa ^{[1
]}

Tilley, Louise ^{[4
,5
]}

机构：

[1] Charles Univ Prague, Dept Neurol, Fac Med 1, Prague 12000 2, Czech Republic

[2] Charles Univ Prague, Dept Neurol, Fac Med 2, Prague, Czech Republic

[3] Natl Inst Haematol & Blood Transfus, Prague, Czech Republic

[4] Inst Transfus Sci, Bristol, England

[5] Int Blood Grp Reference Lab, Bristol, England

来源：

PARKINSONISM & RELATED DISORDERS | 2008年 / 14卷 / 04期

关键词：

McLeod syndrome; acanthocytosis; chorea; behavioural changes; caudate atrophy;

D O I：

10.1016/j.parkreldis.2007.07.011

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 45-year-old man developed chorea, behavioural changes, moderate amyotrophy and polyneuropathy. Hypertrophic cardiomyopathy and increased serum lactate dehydrogenase and creatine kinase (CK) were found. Acanthocytes were not detected. The absence of XK protein and faintly expressed Kell antigens on erythrocytes were found. Genetic test revealed a R133X mutation of the XK gene, confirming the McLeod syndrome. After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomvolysis, hepatic and renal failure. Malignant arrhythmia caused death. (c) 2007 Elsevier Ltd. All rights reserved.

引用

页码：364 / 366

页数：3

共 11 条

[1] A NEW PHENOTYPE (MCLEOD) IN KELL BLOOD-GROUP SYSTEM
ALLEN, FH
KRABBE, SMR
CORCORAN, PA
[J]. VOX SANGUINIS, 1961, 6 (05) : 555 - &
[2] Neuroacanthocytosis: new developments in a neglected group of dementing disorders
Danek, A
Jung, HH
Melone, MAB
Rampoldi, L
Broccoli, V
Walker, RH
[J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 2005, 229 : 171 - 186
[3] McLeod neuroacanthocytosis: Genotype and phenotype
Danek, A
Rubio, JP
Rampoldi, L
Ho, MF
Dobson-Stone, C
Tison, F
Symmans, WA
Oechsner, M
Kalckreuth, W
Watt, JM
Corbett, AJ
Hamdalla, HHM
Marshall, AG
Sutton, I
Dotti, MT
Malandrini, A
Walker, RH
Daniels, G
Monaco, AP
[J]. ANNALS OF NEUROLOGY, 2001, 50 (06) : 755 - 764
[4] Dotti MT, 2000, MOVEMENT DISORD, V15, P1282, DOI 10.1002/1531-8257(200011)15:6<1282::AID-MDS1042>3.0.CO
[5] 2-2
[6] ISOLATION OF THE GENE FOR MCLEOD SYNDROME THAT ENCODES A NOVEL MEMBRANE-TRANSPORT PROTEIN
HO, MF
CHELLY, J
CARTER, N
DANEK, A
CROCKER, P
MONACO, AP
[J]. CELL, 1994, 77 (06) : 869 - 880
[7] Malignant McLeod myopathy
Jung, HH
Brandner, S
[J]. MUSCLE & NERVE, 2002, 26 (03) : 424 - 427
[8] White matter abnormalities on MRI in neuroacanthocytosis
Nicholl, DJ
Sutton, I
Dotti, M
Supple, SG
Danek, A
Lawden, M
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 2004, 75 (08) : 1200 - 1201
[9] Roth J, 2005, FUNCT NEUROL, V20, P127
[10] Testing for acanthocytosis - A prospective reader-blinded study in movement disorder patients
Storch, A
Kornhass, M
Schwarz, J
[J]. JOURNAL OF NEUROLOGY, 2005, 252 (01) : 84 - 90

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