Sjogren Larsson Syndrome

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The Sjögren-Larsson syndrome (SLS) is a form of mental retardation in combination with a progressive spastic paraplegia and ichthyosis , which is endemic almost exclusively in Sweden. The rare hereditary disease was first described in 1957 by Torsten Sjögren and Tage Larsson . In Västerbotten , a historical Swedish province , about one-third are found of reported cases worldwide.

The term Rud syndrome is also used synonymously .

Symptoms

The clinical picture includes a triad of symptoms : congenital generalized fish psoriasis ( ichthyosis ), spastic paralysis of both legs ( paraspastic ) or of the arms and legs ( tetraspastic ) and a moderate to severe mental deficit that progresses up to puberty . In practically all patients from the age of two there are also characteristic glittering deposits ( glistening dots ) in the central retina of the eyes. These can be accompanied by pseudocysts in the center of the retina ( macula ). The characteristic retinal changes are to be regarded as indicative ( pathognomonic ) for the disease.

root cause

The syndrome is triggered by a genetic defect in fatty aldehyde hydrogenase (FALDH) on the short arm of autosomal chromosome 17 , which is inherited in a recessive manner: Both the father and the mother must pass on the chromosome with the corresponding defect to the child. This does not mean that the parents must also suffer from the disease. If both are heterozygous , the probability of a recombination of the defective alleles and thus the outbreak of the disease in the child is around 25%.

The part of the fatty alcohol NAD + oxidoreductase (FAO) enzyme complex responsible for FALDH is impaired in its function, which leads to an increase in fatty alcohols and fatty aldehydes in the blood plasma.

therapy

Curative therapy is not yet possible, so only nursing and symptomatic measures are possible.

Individual evidence

  1. ↑ T. Larsson, T. Sjögren: The changing age-structure in Sweden and its impact on mental illness. In: Bull. World Health Organ. 21, 1959, pp. 569-582, PMID 13831425 PMC 253798 (free full text).
  2. ↑ C. Braun-Quentin, D. Bathke, A. Pfeiffer: The Sjögren-Larsson Syndrome in Germany: Coincidence or a consequence of the Thirty Years War? In: Deutsches Ärzteblatt 1996; 93, pp. A1330-A1335. [1]
  3. ↑ 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 .
  4. ↑ J. Fuijkschot, JR Cruysberg, MA Willemsen, JE Keunen, T. Theelen: Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography. In: Ophthalmology. 115, 2008, pp. 870-875, PMID 17826835 .
  5. ↑ MA Willemsen, JR Cruysberg, JJ Rotteveel, AL Aandekerk, PH Van Domburg, AF Deutman: Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjogren's syndrome Larsson. In: Am. J. Ophthalmol. 130, 2000, pp. 782-789, PMID 11124298 .
  6. ↑ G. Carney, S. Wei, WB Rizzo: Sjogren-Larsson syndrome: seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2. In: Hum Mutat. August 2004; 24 (2), p. 186. PMID 15241804 .

literature

  • T. Sjogren, T. Larsson: Oligophrenia in combination with congenital ichthyosis and spastic disorders. A clinical and genetic study. In: Acta psychiatrica et neurologica scandinavica. Copenhagen 1957, 32, supplement 113, pp. 9-105.