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Neuroacanthocytosis disorders

Mcleod neuroacanthocytosis syndrome

McLeod Neuroacanthocytosis syndrome: McLeod syndrome

McLeod Neuroacanthocytosis syndrome is a rare inherited disorder affecting males. Rarely women carrying the gene may have symptoms. The syndrome is named after Hugh McLeod the blood donor involved in the 1961 report by Allen et al first documenting the syndrome. It is a disorder of neuromuscular, haematological, liver, spleen, heart and central nervous system features. About one hundred and fifty cases have been reported worldwide.

It is thought to be caused by mutations of the XK gene on the X-chromosome.

The features of McLeod Neuroacanthocytosis syndrome can develop singly or in variable combinations and include:

  • Acanthocytosis;
  • Presence of the Mcleod blood group phenotype (characteristics determined by the interaction between an individuals genes and the environment);
  • Involuntary movements of the limbs, trunk, neck, face (but lip and tongue biting are not typical);
  • Cardiac problems;
  • Enlarged liver and spleen, and abnormal liver function tests;
  • Development of psychiatric problems in about twenty per cent of affected individuals;
  • Development of seizures in about forty per cent of affected individuals.

A diagnosis of McLeod Neuroacanthocytosis syndrome is made by establishing the following features:

  • Presence of the Mcleod blood group phenotype;
  • Family history consistent with X-linked inheritance;

and any combination of:

  • Central Nervous System involvement;
    • Progressive chorea (involuntary movements) or parkinsonism (slowed movements and stiffness of limbs) and seizures;
  • Neuromuscular involvement;
    • Myopathy (muscle abnormalities);
    • Sensorimotor axonopathy (disease of the nerves relating to the senses and motion);
  • Heart manifestations;
    • Dilated cardiomyopathy (dilation and impaired pumping function of the main chambers of the heart);
    • Arrhythmia (alteration in rhythm of the heartbeat either in time or force);
  • Enlarged liver and spleen.

McLeod Neuroacanthocytosis syndrome cannot be cured and treatment is symptomatic for the features affecting the individual. Drug therapy will be prescribed for the movement, cardiac problems and seizures. Multidisciplinary psychosocial support for both the affected individuals and their families should be provided. Care must be taken if blood transfusion is required, as transfusion reactions can occur following repeated transfusion of blood with Kell antigens (as most people have). The patient then makes antibodies to Kell and has a transfusion reaction if blood with Kell is transfused again similar to the rhesus reaction in newborns. Banking of autologous (patient's own) blood is recommended.

Inheritance patterns
X-linked dominant.

Prenatal diagnosis
This may be possible in families already known to be affected.

View Abetalipoproteinemia Abetalipoproteinemia  |  Pantothenate kinase-associated neurodegeneration (pkan) View Pantothenate kinase-associated neurodegeneration (pkan)

Medical text written February 2005 by Contact a Family. Approved February 2005 by Dr Ruth H Walker, MB, ChB, PhD, Assistant Professor, Department of Neurology, Department of Veterans Affairs, Bronx, New York and Mount Sinai School of Medicine, New York, USA.

 

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