Article

Unusual muscle pathology in McLeod syndrome.

Institute of Clinical Neurosciences, Royal Prince Alfred Hospital, Camperdown, NSW, Australia.
Journal of Neurology Neurosurgery & Psychiatry (Impact Factor: 4.92). 12/2000; 69(5):655-7. DOI: 10.1136/jnnp.69.5.655
Source: PubMed

ABSTRACT Muscle pathology in McLeod syndrome is usually mild; patchy necrotic or regenerating fibres, occasional internal nuclei, and the absence of an inflammatory cell infiltrate are the usual findings. We report on a 29 year old man presenting with chronic fatiguability and excessive sweating in whom an open quadriceps muscle biopsy demonstrated grouped necrotic fibres accompanied by striking patchy mononuclear cell infiltrates. The diagnosis of McLeod syndrome was made on the basis of red blood cell acanthocytosis, raised serum creatine kinase, and weak expression of Kell blood group antigens. The quadriceps muscle infiltrate consisted principally of histologically typical macrophages. These cells had prominent nucleoli, displayed numerous mitoses, and were strongly CD68+. A small population of typical CD3+, CD43+ lymphocytes was also present. In addition, a small population of large atypical CD3+ cells was noted. Immunoperoxidase stains for CD20, CD30, CD79a, and CD56 were negative. Immunocytochemical studies for the common muscular dystrophies were normal. The muscle biopsy findings highlight a potential for confusion of this condition with idiopathic polymyositis. The expanding range of muscle pathology reported in McLeod syndrome, to which this case adds, may reflect variable involvement of the XK gene on chromosome Xp21, or of the adjacent loci of Duchenne muscular dystrophy and chronic granulomatous disease.

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    ABSTRACT: McLeo dsyndrom ei scause db ymutation so fXK ,a nX-chromosoma lgen eo funknow nfunction .Originall ydefine das apeculia rKel lbloo dgrou pvariant ,th ediseas eaffect smultipl eorgans ,includin gth enervou ssystem ,bu ti scertainly underdiagnosed .W eanalyze dth emutation san dclinica lfinding so f2 2affecte dmen ,age d2 7t o7 2years .Fifteen differen tX Kmutation swer efound ,nin eo fwhic hwer enovel ,includin gth eon eo fth eeponymou scas eMcLeod .Their commo nresul ti spredicte dabsenc eo rtruncatio no fth eX Kprotein .Al lpatient sshowe delevate dlevel so fmuscle creatin ephosphokinase ,bu tclinica lmyopath ywa sles scommon .A periphera lneuropath ywit hareflexi awa sfoun di nall bu t2 patients .Th ecentra lnervou ssyste mwa saffecte di n1 5patients ,a sobviou sfro mth eoccurrenc eo fseizures, cognitiv eimpairment ,psychopathology ,an dchoreati cmovements .Neuroimagin gemphasize dth eparticula rinvolvement o fth ebasa lganglia ,whic hwa sals odetecte di n1 asymptomati cyoun gpatient .Mos tfeature sdevelo pwit hage ,mainly afte rth efourt hdecade .Th eresemblanc eo fMcLeo dsyndrom ewit hHuntington' sdiseas ean dwit hautosoma lrecessive chorea-acanthocytosi ssuggest stha tth ecorrespondin gproteins—XK ,huntingtin ,an dchorein—migh tbelon gt oa com- mo npathway ,th edysfunctio no fwhic hcause sdegeneratio no fth ebasa lganglia. An nNeuro l2001;50:755-764 Discover yo fth eMcLeo dbloo dgrou pvarian twa sa consequenc eo fth eroutin escreenin go fHarvar dstu- dent sfo rne wantibodie si nth elat e1950s .Lik eother erythrocyt ephenotypes ,th epeculia rpatter no fweakly expresse dKel lantigen sreceive dit snam efro mth epro- positus.1 Acanthocytosi s(acanth a 5thorn) ,th eabnor- ma lshap eo fthes ere dcells ,wa snote dmuc hlater.2 Diagnosi so fth eMcLeo dphenotyp ei na bo ywith chroni canemi afro ma larg eNe wZealan dfamil yled t oth erecognitio no ffeature ssuc ha shemolysis ,hepa- tomegaly ,an dsplenomegaly3 an dprove dth eassump- tio no fX-linke dinheritance.2 "McLeo dsyndrome "was

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