Summary
McLeod syndrome was originally described on the basis of a specific blood group phenotype with weak expression of Kell antigens. This erythrocyte abnormality also causes acanthocytosis. The haematological findings are associated with abnormalities in other organ systems, including neuromuscular manifestations. A 51-year-old patient was followed up for 11 years. He presented with persistent muscle creatine kinase elevation and progressive heart disease and later developed a slowly progressive neuropathy and choreic movements. His younger brother presented with grand mal seizures, involuntary movements and high muscle creatine kinase when aged 43 years. Clinical myopathy was absent in both, yet muscle biopsy showed mild myopathic changes. The presence of a motor axonopathy was supported by electrophysiological findings. One brother also showed sensory axonopathy. The movement disorder suggested accompanying basal ganglia dysfunction. Earlier reports of McLeod syndrome are reviewed with respect to neuromuscular involvement. Absence of the Kx membrane protein seems to be the cause of this multi-system disorder.
Similar content being viewed by others
References
Allen FH, Krabbe SMR, Corcoran PA (1961) A new phenotype (McLeod) in the Kell blood-group system. Vox Sang 6:555–560
Bertelson CJ, Pogo AO, Chaudhuri A, Marsh WL, Redman CM, Banerjee D, Symmans WA, Simon T, Frey D, Kunkel LM (1988) Localization of the McLeod locus (Xk) within Xp21 by deletion analysis. Am J Hum Genet 42:703–711
Brandenburg RO, Chazov E, Cherian G, Falase AO, Grosgogeat Y, Kawai C, Loogen F, Martin Judez V, Orinius E, Goodwin JF, Olsen EGJ, Oakley CM, Pisa Z (1980) Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. Br Heart J 44:672–673
Brooke MH, Engel WK (1969) The histographic analysis of human muscle biopsies with regard to fiber types. I. Adult male and female. Neurology 19:221–233
Brooke MH, Engel WK (1986) The histographic analysis of human muscle biopsies with regard to fiber types. II. Diseases of the upper and lower motor neuron. Neurology 19:378–393
Carter ND, Morgan JE, Monaco AP, Schwartz MS, Jeffery S (1990) Dystrophin expression and genotypic analysis of two cases of benign X linked myopathy (McLeod's syndrome) J Med Genet 27:345–347
Danek A, Witt TN, Stockmann HBAC, Weiss BJ, Schotland DL, Fischbeck KH (1990) Normal dystrophin in McLeod myopathy. Ann Neuro 28:720–722
Dinauer MC, Orkin SH (1988) Chronic granulomatous disease — molecular genetics. Hematol Oncol Clin North Am 2:225–240
Dubowitz V (1985) Muscle biopsy. A practical approach. Baillière Tindall, London, pp 320–323
Faillace RT, Kingston WJ, Nanda NC, Griggs RC (1982) Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis. Ann Intern Med 96:616–617
Francke U, Ochs HD, Martinville B de, Giacalone J, Lindgren V, Disteche CM, Pagon RM, Hofker MH, Ommen G-JB van, Pearson PL, Wedgwood RJ (1985) Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet 37:250–267
Hardie RJ, Pullon HWH, Harding AE, Owen JS, Pires M, Daniels GL, Imai Y, Misra VP, King RHM, Jacobs JM, Tippett P, Duchen LW, Thomas PK, Marsden CD (1991) Neuroacanthocytosis, a clinical, haematological and pathological study of 19 cases. Brain 114:13–49
Jennekens FGI, Tomlinson BE, Walton JN (1971) Data on the distribution of fibre types in five human limb muscles, an autopsy study. J Neurol Sci 14:245–257
Johnson MA, Polgar J, Weightman M, Appleton D (1973) Data on the distribution of fibre types in thirty-six human muscles, an autopsy study. J Neurol Sci 18:111–129
Marsh WL (1978) Chronic granulomatous disease, the McLeod syndrome, and the Kell blood groups. Birth Defects 14:9–25
Marsh WL (1983) Deleted antigens of the Rhesus and Kell blood groups: association with cell membrane defects. In: Garraty G (ed) Blood group antigens and disease. American Association of Blood Banks, Arlington, Va, pp 165–185
Marsh WL, Redman MC (1990) The Kell blood group system: a review. Transfusion 30:158–167
Marsh WL, Marsh NJ, Moore A, Symmans WA, Johnson CL, Redman CM (1981) Elevated serum creatine phosphokinase in subjects with McLeod syndrome. Vox Sang 40:403–411
Marsh WL, Schnipper EF, Johnson CL, Mueller KA, Schwartz SA (1983) An individual with McLeod syndrome and the Kell blood group antigen K(KI). Transfusion 23:336–338
Redman CM, Marsh WL, Scarborough A, Johnson CL, Rabin BI, Overbeeke M (1988) Biochemical studies in McLeod phenotype red cells and isolation of Kx antigen. Br J Haematol 68:131–136
Rowland LP (1988) Clinical concepts of Duchenne muscular dystrophy — the impact of molecular genetics. Brain 111:479–495
Saint Basile G de, Bohler MC, Fischer A, Cartron J, Dufier JC, Griscelli C, Orkin SH (1988) Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype. Hum Genet 80:85–89
Schwartz SA, Marsh WL, Symmans A, Johnson CL, Mueller KA (1982) “New” clinical features of McLeod syndrome. Transfusion 22:404
Spinola-Franco H, Bjork L, Adams DF, Abrams HL (1980) Classification of the radiological morphology of the mitral valve: differentiation between true and pseudoprolapse. Br Heart J 44:30–36
Sunohara N, Takagi A, Nonaka I, Sugita H, Satayoshi E (1984) Idiopathic hyperCKemia. Neurology 34:544–547
Swash M, Schwartz MS, Carter ND, Heath R, Leak M, Rogers KL (1983) Benign X-linked myopathy with acanthocytes (McLeod syndrome), its relationship to X-linked muscular dystrophy. Brain 106:717–733
Wimer BM, Marsh WL, Taswell HF, Galey WR (1977) Haematological changes associated with the McLeod phenotype of the Kell blood group system. Br J Haematol 36:219–224
Zyskowski LP, Bunch TW, Hoagland HC, Taswell HF, Fairbanks VF (1983) McLeod syndrome (hemolysis, acanthocytosis, and increased serum creatine kinase): potential confusion with polymyositis. Arthritis Rheum 26:806–808
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Witte, T.N., Danek, A., Reiter, M. et al. McLeod syndrome: a distinct form of neuroacanthocytosis. J Neurol 239, 302–306 (1992). https://doi.org/10.1007/BF00867584
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00867584