Infantile neuronal ceroid lipofuscinosis
| Infantile neuronal ceroid lipofuscinosis | |
|---|---|
| Specialty | Neurology, endocrinology  |
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[citation needed] – 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.
See also
- FAIDD (The Finnish Association on Intellectual and Developmental Disabilities)
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.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ 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.