Spielmeyer-Vogt disease
| Classification according to ICD-10 | |
|---|---|
| E75.4 | Neural ceroid lipofuscinosis - Spielmeyer-Vogt disease |
| ICD-10 online (WHO version 2019) | |
The game Meyer-Vogt disease , also Batten's disease is a very rare congenital neurodegenerative disease with the main features of ubiquitous Lipopigmentablagerung in the lysosomes. This cerebellar form of heredo ataxia is the classic juvenile form of neuronal ceroid lipofuscinosis as CLN3 .
Synonyms are: Neuronal ceroid lipofuscinosis type Spielmeyer-Vogt; Juvenile NCL; Stengel's disease; Vogt-Spielmeyer-Stock Disease (VSS); Spielmeyer-Sjogren type of neuronal ceroid lipofuscinosis; Juvenile amaurotic idiocy (obsolete); Juvenile lipoidosis; Stick mayou disease; English Batten disease ; Latin Batten's disease
The names refer to the authors of various descriptions, s. under history.
distribution
The frequency at birth in Germany is about 1 in 143,000, in Sweden about 1 in 45,000. Inheritance is autosomal - recessive .
root cause
Of the disease are in the vast majority of mutations in CLN3 - gene on locus 16p12.1 based.
Clinical manifestations
Clinical criteria are:
- Manifestation in the 6-7 age
- Visual impairment in 70%, increasing blindness with optic atrophy , macular degeneration and pigment deposits
- Loss of acquired intellectual and motor functions
- Poor posture, unsteady gait, athetosis
- Later seizures
- Survival 6–20 years
diagnosis
In the blood smear , there are lymphocytes with large vacuoles , a diagnosis is made by human genetics .
Differential diagnosis
In the initial stage, the differential diagnosis includes retinitis pigmentosa , later on, other causes of dementia and seizures in school age such as mitochondriopathies and subacute sclerosing panencephalitis .
therapy
Treatment is currently only possible palliative .
history
The first description of this disease probably dates from 1826 by the German, in Norway working doctor Christian Stengel .
From Frederick Eustace Batten , a report comes from the year 1903. Walther Game Meyer reported in November 1905 on three infants at a congress in Karlsruhe, Wolfgang Stock reports in 1908 about this disease and Torsten Sjögren published in 1931 detailed documentation.
Individual evidence
- ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
- ↑ a b c d e Ceroid lipofuscinosis, neuronal, juvenile. In: Orphanet (Rare Disease Database).
- ↑ Ceroid lipofuscinosis, neuronal, 3rd In: Online Mendelian Inheritance in Man . (English)
- ↑ a b Stengel's Syndrome
- ↑ FE Batten: Cerebral degeneration with symmetrical changes in the maculae in two members of a family. In: Transactions of the Ophthalmological Societies of the United Kingdom , Vol. 23, 1903, pp. 386-390
- ↑ W. Stock: About a form of familial retinal degeneration that has not yet been described with simultaneous degeneration and pigment degeneration of the retina. In: Clinical monthly sheets for ophthalmology , Stuttgart, 1908, Vol. 5, pp. 225–244
- ^ KGT Sjögren: The juvenile amaurotic idiocy. Clinical and hereditary medical examinations. In: Hereditas , Vol. 14, 1931, pp. 197-426
