Marinescu-Sjogren's Syndrome

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Classification according to ICD-10
G11.1 Early onset of cerebellar ataxia
ICD-10 online (WHO version 2019)

The Marinescu-Sjogren's syndrome is a rare congenital disease with a combination of cerebellum-related (spinocerebellar) ataxia , mental retardation , dysarthria , cataracts and short stature .

Synonyms are:

  • Marinescu-Sjogren-Garland Syndrome
  • Marinescu Garland Syndrome

The syndrome should not be confused with Marinesu-Sjogren's Syndrome II as an outdated term for trichothiodystrophy .

The name refers to the authors of the first description from 1931 by the Romanian neurologist Gheorghe Marinescu (1863-1938) and 1935 by the Swedish neurologist Karl Gustaf Torsten Sjögren (1896-1974).

distribution

The frequency is given as below 1–9 in 1,000,000, inheritance is autosomal - recessive .

root cause

The disease is based on mutations in the SIL1 gene at locus 5q31.2.

Clinical manifestations

Clinical criteria are:

  • Both cataracts occurring in early childhood, nystagmus , epicanthus , vertical gaze palsy , ptosis
  • increasing trunk ataxia, dysarthria, increased salivation
  • delayed psychomotor development, mental retardation
  • Short stature with delayed skeletal maturation

The course is slowly progressing to the point of loss of the ability to walk.

diagnosis

The diagnosis is clinical. An ophthalmological examination can document the cataract, and magnetic resonance imaging can document the cerebellar atrophy, especially of the cerebellar worm, and determine the extent.

Differential diagnosis

To be delimited is u. a. the Gillespie syndrome .

therapy

There is no causal treatment available, but symptoms can be treated and surgical removal of the cataract is often required.

Individual evidence

  1. ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
  2. ↑ G. Marinescu, S. Draganescu, D. Vasiliu: Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du développement somato-neuro-psychique. In: L'encéphale , Paris, 1931, vol. 26, pp. 97-109.
  3. ↑ T. Sjögren: Clinical and hereditary studies on oligophrenia with congenital cataract. In: Journal for the entire neurology and psychiatry , Berlin, 1935, vol. 152, pp. 263-292.
  4. ↑ Who named it
  5. ↑ a b c Marinescu-Sjogren syndrome. In: Orphanet (Rare Disease Database).
  6. ^ Marinescu-Sjogren's syndrome.  In: Online Mendelian Inheritance in Man . (English)