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An unusual phenotype of McLeod syndrome with late onset axonal neuropathy
  1. M Wada1,
  2. M Kimura1,
  3. M Daimon1,
  4. K Kurita1,
  5. T Kato1,
  6. Y Johmura2,
  7. K Johkura2,
  8. Y Kuroiwa2,
  9. G Sobue3
  1. 1Third Department of Internal Medicine, Yamagata University School of Medicine, Yamagata, Japan
  2. 2Department of Neurology, Yokohama City University School of Medicine, Yokohama, Japan
  3. 3Department of Neurology, Nagoya University School of Medicine, Nagoya, Japan
  1. Correspondence to:
 Dr Manabu Wada
 Third Department of Internal Medicine, Yamagata University School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan; mwadayacht.ocn.ne.jp

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McLeod syndrome is a rare multisystem disorder defined by weak expression of the Kell glycoprotein antigens and the absence of a red blood cell surface antigen, Kx.1,2 The gene responsible for McLeod syndrome, XK, was cloned in 1994.1 The XK protein contains the Kx antigen missing in patients with McLeod syndrome. Mutation analysis of the XK gene has shown different deletions or point mutations in families with this condition.2,3

Clinical features of McLeod syndrome are reported to be heterogeneous.2,4,5 Clinical manifestations include acanthocytosis, an increased level of serum creatine kinase (CK), progressive muscular atrophy, seizures, and involuntary movement. As the symptoms and signs of this syndrome seem to be variable even among siblings, it is sometimes difficult to distinguish the condition from other neuromuscular disorders by clinical features and conventional examination.

We report here two cases of McLeod syndrome in brothers and emphasise the variable features of the disease. Phenotypic variability was obvious in the two patients, and one case was unusual because the clinical features greatly resembled an axonal form of Charcot-Marie-Tooth disease.

Case reports

Case 1

A 50 year old man had been complaining of weakness and paraesthesiae in both legs. He first noted weakness in the right leg at the age of 37. Subsequently, the symptom extended to both legs, and he began to be unsteady on his …

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