Infantile neuronal ceroid lipfuscinosis
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| Infantile neuronal ceroid lipfuscinosis Classification and external resources |
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| OMIM | 256730 |
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| DiseasesDB | 31533 |
| 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[citation needed] – but relatively common in Finland due to the local founder effect.
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[edit] Causes
It has been associated with palmitoyl-protein thioesterase.[3]
[edit] 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.
[edit] 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.
[edit] References
- ^ Santavuori P, Haltia M, Rapola J (October 1974). "Infantile type of so-called neuronal ceroid-lipofuscinosis". Dev Med Child Neurol 16 (5): 644–53. PMID 4371326.
- ^ Baumann RJ, Markesbery WR (November 1982). "Santavuori disease: diagnosis by leukocyte ultrastructure". Neurology 32 (11): 1277–81. PMID 6890163.
- ^ 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. PMID 10874636.
[edit] External links
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