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Haltia-Santavuori syndrome

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Batten's syndrome is a recessively inherited neurodegenerative condition involving a lysosomal storage defect. It is caused by abnormal storage of cerebral lipofuscins.

There are a number of other names that are used to refer to this condition, depending on the age of onset:

  • Haltia-Santavuori syndrome, for the infantile type
  • Jansky-Bielschowsky syndrome, for the late infantile type
  • Spielmeyer-Vogt syndrome, for the juvenile type

In addition this condition is sometimes known as familial amaurotic familial idiocy or as lipofuscinosis.

The gene involved in this syndrome is on chromosome 16.


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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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