The disease of Bilshovsky - Jansky ( eng. Late infantile neuronal ceroid lipofuscinoses (LINCL), Jansky-Bielschowsky disease ) is a late infantile (child) form of wax-like lipofuscinosis of neurons , which develops against the background of a lysosomal enzyme deficit tripeptidyl- thepe-thepe-thepe-thepe-thepe-thepe-thetera-thepe-thepe-thepe-thependroptectopesphiopathy, a group of the neurons that develop. It belongs to the group of lysosomal storage diseases .
| Bilshovsky - Jansky disease | |
|---|---|
| ICD-10 | E 75.4 |
| ICD-10-KM | |
| ICD-9 | 330.1 |
| OMIM | 204500 |
| DiseasesDB | 31535 |
| Mesh | D009472 |
Content
Eponym
The disease ( idiocy amarotic children's late ) was named in honor of the German morphologist Max Bilshovsky and the Czech doctor Jan Jansky ( Eng. Jan Janský ) [2] [3] [4] [5] .
Inheritance
The disease is inherited in an autosomal recessive manner and, therefore, occurs with equal frequency in both men and women .
The autosomal recessive mode of inheritance in practice means that the defective gene is located on one of two allelic autosomes . The disease clinically manifests only in the case when both autosomes, obtained one by one from the father and the mother, are defective for this gene. As in all cases of autosomal recessive inheritance, if both parents carry a defective gene, then the probability of inheritance of the disease in the offspring is 1 in 4. Thus, on average, one sick child in such a family has three without clinical signs of manifestations of a gene disease. The blue diagram indicates healthy, violet carriers of the defective gene, red Bilshovsky-Yansky disease (two defective genes of one allele 11q 15.5). The blue circle marked normal gene, red - defective.
Pathogenesis
A genetic defect of the 11q 15.5 chromosome locus (TPP1 gene ) leads to a deficiency of Tripeptidyl-peptidase-1, one of the lysosomal enzymes . In turn, the defect of this enzyme causes a progressive accumulation of lipofuscin pigment , which over time can cause irreversible damage to neurons , liver , muscles and cause death .
Clinical picture
The pediatric form of amavrotic idiocy manifests itself clinically between the ages of 2 and 4 years of age. Typical early signs are loss of muscle coordination — progressive cerebellar ataxia and convulsive seizures against a background of progressive mental degradation , although a moderate delay in speech development may occur long before the development of other symptoms . In addition, the disease is characterized by nystagmus , myoclonia, spastic paresis , hyperacussion , blindness , loss of motor and speech skills [5] .
Forecast
This form progresses rapidly and ends in death between the ages of 8 and 12 years of age.
See also
- Lysosomal storage diseases
- Parenchymal dystrophy
Notes
- ↑ OMIM 204500 (Eng.)
- ↑ synd / 866 on Who Named It? (eng.)
- ↑ Large Medical Dictionary: . Bilshovsky - Jansky disease . enc-dic.com. The appeal date is December 7, 2014.
- ↑ Encyclopedia of medical terms: . Bilshovsky - Jansky disease . nedug.ru. The appeal date is December 7, 2014.
- ↑ 1 2 Medical encyclopedia: . Bilshovsky - Jansky disease . dic.academic.ru. The appeal date is December 7, 2014.
Literature
- Small Medical Encyclopedia. - M .: Medical encyclopedia. 1991—96
- First aid. - M .: Great Russian Encyclopedia. 1994
- Encyclopedic dictionary of medical terms. - M .: Soviet Encyclopedia. - 1982-1984