Infantile neuronal ceroid lipofuscinosis

Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease[1] or Hagberg-Santavuori disease[2] or Santavuori-Haltia disease[2] or Infantile Finnish type neuronal ceroid lipofuscinosis[3] or Balkan disease[3] 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,[4] perhaps 100 sufferers in total today – but relatively common in Finland due to the local founder effect.

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

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. The average lifespan of an INCL child is 9–11 years.

Causes

It has been associated with palmitoyl-protein thioesterase.[5]

Diagnosis

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.

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

References
  1. Santavuori P, Haltia M, Rapola J (October 1974). "Infantile type of so-called neuronal ceroid-lipofuscinosis". Dev Med Child Neurol. 16 (5): 644–53. doi:10.1111/j.1469-8749.1974.tb04183.x. PMID 4371326.
  2. ORPHA:79263
  3. Classic Infantile CLN1 Disease
  4. Baumann RJ, Markesbery WR (November 1982). "Santavuori disease: diagnosis by leukocyte ultrastructure". Neurology. 32 (11): 1277–81. doi:10.1212/wnl.32.11.1277. PMID 6890163.
  5. Voznyi YV, Keulemans JL, Mancini GM, et al. (June 1999). "A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants". J. Med. Genet. 36 (6): 471–4. doi:10.1136/jmg.36.6.471 (inactive 2020-01-22). PMC 1734393. PMID 10874636.
Classification
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