Infantile neuronal ceroid lipfuscinosis

Infobox_Disease
Name = Infantile neuronal ceroid lipfuscinosis


Caption =
DiseasesDB = 31533
ICD10 =
ICD9 =
ICDO =
OMIM = 256730
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D009472

INCL, also known as Infantile Neuronal Ceroid Lipofuscinoses or Santavuori Diseasecite journal |author=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 |year=1974 |month=October |pmid=4371326 |doi= |url=] 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 |author=Baumann RJ, Markesbery WR |title=Santavuori disease: diagnosis by leukocyte ultrastructure |journal=Neurology |volume=32 |issue=11 |pages=1277–81 |year=1982 |month=November |pmid=6890163 |doi= |url=] perhaps 100 sufferers in total todayFact|date=February 2007 – but relatively common in Finland due to the local founder effect.

Causes

It has been associated with palmitoyl-protein thioesterase.cite journal |author=Voznyi YV, Keulemans JL, Mancini GM, "et al" |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 |year=1999 |month=June |pmid=10874636 |doi= |url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=10874636]

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 athropy 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.

References

External links

* [http://www.neurologiasaatio.fi/index.php?id=13 An overview (in Finnish)]
* [http://www.incl.fi/index.shtml The INCL organization of Finland (in Finnish)]