McLeod syndrome

Classification according to ICD-10
G25	Other chorea
E78.6	Lipoprotein deficiency
ICD-10 online (WHO version 2019)

The McLeod syndrome (synonyms: McLeod neuro-acanthocytosis syndrome; myopathy with acanthocytosis, benige X-linked, XkLocus ) is a very rare sex-linked inherited disease with a combination of muscle weakness, "spiky cell formation" ( acanthocytes ) of the red blood cells and abnormally lower Gene expression of the Kell blood group antigen .

The syndrome is counted among the neuroacanthocytoses .

It was first described in 1961 by the US doctors Fred H. Allen, Sissel MR Krabbe and Patricia A. Corcoran. Namesake was the first known patient with the disease, the student Hugh McLeod.

The syndrome is not to be confused with the Swyer-James syndrome named in the International Classification ICD-10 as "McLeod syndrome" .

distribution

McLeod syndrome is a rare disease . The frequency is given as less than 1 in 1,000,000, inheritance is X-linked recessive . So far, about 150 people have been reported to be affected. The male gender is predominantly affected; female carriers rarely have neurological abnormalities.

root cause

Of the disease are mutations in the XK - gene on the X chromosome locus p21.1 based, which for the XK-protein, a membrane protein , encodes part of the Kell antigen system.

Clinical manifestations

Clinical criteria are:

decreased erythrocyte survival time

increased creatine kinase in blood serum

Muscle weakness that is often not clinically apparent, but demonstrable muscle fiber necrosis with a tendency to regenerate. Often, however, muscle weakness also becomes clinically significant

no cardiac involvement, but cardiomyopathies likely to be frequent in the course of the disease

Often manifested before the age of 30

psychological abnormalities, later chorea emphasizing the mouth and face , in a third also initial symptom

generalized seizures ( epilepsy )

In addition to neuropathy , cardiomyopathy come.

The syndrome can be part of a contiguous gene syndrome .

diagnosis

The diagnosis is made by detecting the missing or reduced Kx antigen on the erythrocytes as well as by the human genetic detection of the mutation. In the magnetic resonance imaging to signal changes can be in the lateral putamen with atrophy of the caudate nucleus may, in the thalamus and the nigra substantia evidence.

Differential diagnosis

The following are to be distinguished:

therapy

So far, only symptom-related treatment is possible, cardiac complications should be considered.

forecast

The prognosis is considered unfavorable.

literature

HH Jung HH, A. Danek, RH Walker, BM Frey, C. Gassner: McLeod Neuroacanthocytosis Syndrome. In: MP Adam, HH Ardinger, RA Pagon, SE Wallace, LJH Bean, K. Stephens, A. Amemiya (eds.) GeneReviews , 1993–2019, 2004 Dec 3 [updated 2019 May 23]. [1]
A. Danek, JP Rubio, L. Rampoldi, M. Ho, C. Dobson-Stone, F. Tison, WA Symmans, M. Oechsner, W. Kalckreuth, JM Watt, AJ Corbett, HH Hamdalla, AG Marshall, I. Sutton, MT Dotti, A. Malandrini, RH Walker, G. Daniels, AP Monaco: McLeod neuroacanthocytosis: genotype and phenotype. In: Annals of neurology. Volume 50, Number 6, December 2001, pp. 755-764, doi: 10.1002 / ana.10035 , PMID 11761473 .

Web links

McLeod neuroacanthocytosis syndrome at Genetics Home Reference
McLeod neuroacanthocytosis syndrome at the Genetic and Rare Diseases Information Center (GARD)

Individual evidence

↑ ^a ^b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
↑ ^a ^b ^c ^d ^e ^f ^g McLeod neuro-acanthocytosis syndrome. In: Orphanet (Rare Disease Database).
^ FH Allen, SM Krabbe, PA Corcoran: A new phenotype (McLeod) in the Kell blood-group system. In: Vox sanguinis. Volume 6, September 1961, pp. 555-560, doi: 10.1111 / j.1423-0410.1961.tb03203.x , PMID 13860532 .
↑ McLeod syndrome with or without chronic granulomatous disease. In: Online Mendelian Inheritance in Man . (English)
↑ PC Tian, Y. Wang, Z. Chen, DD Shi, HL Wang, Q. Luo: The first case report of McLeod syndrome in an infant with a novel mutation (c.89C> A, p. Ser30X) in XK. In: Clinical neurology and neurosurgery. Volume 184, September 2019, p. 105421, doi: 10.1016 / j.clineuro.2019.105421 , PMID 31319236 .

[Leiber-1] Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .

[Orpha-2] ↑ ^a ^b ^c ^d ^e ^f ^g McLeod neuro-acanthocytosis syndrome. In: Orphanet (Rare Disease Database).

[3] FH Allen, SM Krabbe, PA Corcoran: A new phenotype (McLeod) in the Kell blood-group system. In: Vox sanguinis. Volume 6, September 1961, pp. 555-560, doi: 10.1111 / j.1423-0410.1961.tb03203.x , PMID 13860532 .

[4] McLeod syndrome with or without chronic granulomatous disease. In: Online Mendelian Inheritance in Man . (English)

[5] PC Tian, Y. Wang, Z. Chen, DD Shi, HL Wang, Q. Luo: The first case report of McLeod syndrome in an infant with a novel mutation (c.89C> A, p. Ser30X) in XK. In: Clinical neurology and neurosurgery. Volume 184, September 2019, p. 105421, doi: 10.1016 / j.clineuro.2019.105421 , PMID 31319236 .