Infantile neuronal ceroid lipofuscinosis

Infantile neuronal ceroid lipofuscinosis
Other namesSantavuori disease, Hagberg-Santavuori disease, Santavuori-Haltia disease, Infantile Finnish type neuronal ceroid lipofuscinosis, Balkan disease
SpecialtyEndocrinology

Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg–Santavuori disease or Santavuori–Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982.

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