Megalencephalic Leukodystrophy
| Classification according to ICD-10 | |
|---|---|
| E75.2 | Other sphingolipidoses |
| ICD-10 online (WHO version 2019) | |
The Megalenzephale leukodystrophy is a very rare, to the leukoencephalopathies associated congenital disease with the main features of leukodystrophy with ataxia and Megalencephaly .
Synonyms are: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; MLC; Megalencephaly - cystic leukodystrophy; Vacuolating myelinonopathy with subcortical cysts; Van der Knaap syndrome
The name refers to the first authors of the first description from 1996 by Marjo van der Knaap and colleagues.
distribution
The frequency is specified with less than 1 in 1 million, the inheritance is done in an autosomal dominant or autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- MLC1 , mutations in MLC1 - gene on chromosome 22 locus q13.33
- MLC2A , mutations in the HEPACAM gene on chromosome 11 locus q24.2
- MLC2B , heterozygous mutations in the same place with improvement over time
Clinical manifestations
Clinical criteria are:
- Onset of illness in toddlerhood, neonatal period
- development of megalencephaly during the first year of life
- first ataxia , then progressively pyramidal trajectories and mental retardation
diagnosis
In magnetic resonance imaging , damage to the white matter and subcortical cysts can sometimes be found before neurological signs of the disease .
Differential diagnosis
There are other forms of leukoencephalopathy and megalencephaly .
therapy
Symptomatic treatment consists of physiotherapy , psychomotor stimulation, and anticonvulsant medication .
literature
- EM Hamilton, P. Tekturk, F. Cialdella, DF van Rappard, NI Wolf, C. Yalcinkaya, .. Çetinçelik, A. Rajaee, A. Kariminejad, J. Paprocka, Z. Yapici, VM Bošnjak, MS van der Knaap: Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. In: Neurology. Volume 90, number 16, April 2018, pp. E1395 – e1403, doi: 10.1212 / WNL.0000000000005334 , PMID 29661901 , PMC 5902784 (free full text).
- S. Jerbi Omezzine, H. Ben Ameur, R. Bousoffara, A. Ayedi, HA Hamza, MT Sfar: La leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux: description de 4 nouveaux cas. In: Journal de radiologie. Volume 89, Numbers 7-8 Pt 1, 2008 Jul-Aug, pp 891-894, PMID 18772751 (review).
Individual evidence
- ↑ a b c d e Megalencephalic leukoencephalopathy with subcortical cysts. In: Orphanet (Rare Disease Database).
- ↑ MS van der Knaap, PG Barth, GF Vrensen, J. Valk: Histopathology of an infantile-onset spongiform leukoencephalopathy with a discrepantly mild clinical course. In: Acta neuropathologica. Volume 92, Number 2, August 1996, pp. 206-212, PMID 8841668 .
- ^ Gene Reviews
- ↑ Megalencephalic leukoencephalopathy with subcortical cysts. In: Online Mendelian Inheritance in Man . (English)
- ↑ Megalencephalic leukoencephalopathy with subcortical cysts 2A. In: Online Mendelian Inheritance in Man . (English)
- ↑ Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation. In: Online Mendelian Inheritance in Man . (English)
