infantile neuronal ceroid lipofuscinosis
{{Infobox medical condition (new)
|name = Infantile neuronal ceroid lipofuscinosis
|synonym = Santavuori disease, Hagberg-Santavuori disease, Santavuori-Haltia disease, Infantile Finnish type neuronal ceroid lipofuscinosis, Balkan disease
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Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease{{cite journal |vauthors=Santavuori P, Haltia M, Rapola J |title=Infantile type of so-called neuronal ceroid-lipofuscinosis |journal=Dev Med Child Neurol |volume=16 |issue=5 |pages=644–53 |date=October 1974 |pmid=4371326 |doi= 10.1111/j.1469-8749.1974.tb04183.x|s2cid=23169241 }} or Hagberg–Santavuori disease[http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=11289&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=79263&Disease(s)/group%20of%20diseases=Santavuori-Haltia-disease&title=Santavuori-Haltia-disease&search=Disease_Search_Simple ORPHA:79263] or Santavuori–Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis[https://rarediseases.org/rare-diseases/santavuori-disease/ Classic Infantile CLN1 Disease] 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.{{cite journal |vauthors=Baumann RJ, Markesbery WR |title=Santavuori disease: diagnosis by leukocyte ultrastructure |journal=Neurology |volume=32 |issue=11 |pages=1277–81 |date=November 1982 |pmid=6890163 |doi= 10.1212/wnl.32.11.1277|s2cid=30186235 }}
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.{{cn|date=December 2024}}
Causes
It has been associated with palmitoyl-protein thioesterase.{{cite journal |vauthors=Voznyi YV, Keulemans JL, Mancini GM, etal |title=A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants |journal=J. Med. Genet. |volume=36 |issue=6 |pages=471–4 |date=June 1999 |pmid=10874636 |doi= 10.1136/jmg.36.6.471|url= |pmc=1734393}}
Diagnosis
{{Empty section|date=May 2017}}
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.{{cn|date=December 2024}}
Recent attempts to treat INCL with cystagon have been unsuccessful.{{cn|date=December 2024}}
See also
- FAIDD (The Finnish Association on Intellectual and Developmental Disabilities)
References
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External links
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| ICD10 = {{ICD10|E75.4}}
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| DiseasesDB = 31533
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- [https://www.ncbi.nlm.nih.gov/books/NBK1428/ GeneReviews/NCBI/NIH/UW entry on Neuronal Ceroid-Lipofuscinosis]
- [https://web.archive.org/web/20100724020235/http://verneri.net/yleis/kehitysvammaisuus/diagnoosit/incl-ja-ncl-taudit.html An overview (in Finnish)]
- [http://www.incl.fi/ The INCL organization of Finland (in Finnish)]
{{Lipid storage disorders}}