Infantile neuronal ceroid lipofuscinosis

Infantile neuronal ceroid lipfuscinosis
Classification and external resources
OMIM	256730
DiseasesDB	31533
MeSH	D009472

Infantile neuronal ceroid lipofuscinoses (INCL) 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. 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

↑ 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.
↑ 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.
↑ 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. PMC 1734393. PMID 10874636.

External links

(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7–272.8)

Sphingolipidoses
(to ceramide)

From ganglioside (gangliosidoses)	Ganglioside: GM1 gangliosidoses GM2 gangliosidoses (Sandhoff disease Tay–Sachs disease AB variant)

From globoside	Globotriaosylceramide: Fabry's disease

From sphingomyelin	Sphingomyelin: phospholipid: Niemann–Pick disease (SMPD1-associated type C) Glucocerebroside: Gaucher's disease

From sulfatide (sulfatidoses leukodystrophy)	Sulfatide: Metachromatic leukodystrophy Multiple sulfatase deficiency Galactocerebroside: Krabbe disease

To sphingosine	Ceramide: Farber disease

NCL

Other

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