Infantile neuronal ceroid lipofuscinosis
| Infantile neuronal ceroid lipofuscinosis | |
|---|---|
| Other names | Santavuori disease, Hagberg-Santavuori disease, Santavuori-Haltia disease, Infantile Finnish type neuronal ceroid lipofuscinosis, Balkan disease |
| Specialty | Endocrinology |
Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori diseaserecessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982,[4] perhaps 100 with the condition in total today[citation needed][when?] – but relatively common in Finland due to the local founder effect.
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
touch
remain unaffected. The average lifespan of an INCL child is 9–11 years.
Causes
It has been associated with
palmitoyl-protein thioesterase.[5]
Diagnosis
![[icon]](/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (May 2017) |
Treatment
Treatment is limited. Drugs can alleviate the symptoms, such as sleep difficulties and
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
- S2CID 23169241.
- ^ a b ORPHA:79263
- ^ a b Classic Infantile CLN1 Disease
- S2CID 30186235.
- PMID 10874636.