Infantile neuronal ceroid lipfuscinosis

Infantile neuronal ceroid lipfuscinosis
Classification and external resources
OMIM DiseasesDB MeSH D009472

INCL, also known as Infantile Neuronal Ceroid Lipofuscinoses or Santavuori Disease[1] 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,[2] perhaps 100 sufferers in total today – but relatively common in Finland due to the local founder effect.

Causes

It has been associated with palmitoyl-protein thioesterase.[3]

Presentation

The development of children born with INCL is normal for the first 8–18 months, but will then flounder and start to regress both physically and mentally. Motor skills and speech are lost, and optic atrophy causes blindness. A variety of neurological symptoms, such as epilepsy and myoclonic seizures, appear. The senses of hearing and touch remain unaffected, and sufferers have been known to enjoy music. The average lifespan of an INCL child is 9–11 years.

Treatment

Treatment is limited. Drugs can alleviate the symptoms, such as sleep difficulties and epilepsy. Physiotherapy helps affected children retain the ability to remain upright for as long as possible, and prevents some of the pain.

Recent attempts to treat INCL with Cystagon have been unsuccessful.

See also

  • FAIDD (The Finnish Association on Intellectual and Developmental Disabilities)

References

External links

  • GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis
  • An overview (in Finnish)
  • The INCL organization of Finland (in Finnish)
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