Brown-Vialetto-van-Laere syndrome

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Classification according to ICD-10
G12.1 Other inherited spinal muscular atrophy
ICD-10 online (WHO version 2019)

The Brown-Vialetto-van-Laere syndrome is a very rare genetic disorder characterized by failure of several caudal cranial nerves and deafness . Spinal muscular atrophy can also occur.

The name goes back to the first description by CH Brown in 1894 and further reports in 1936 by E. Vialetto and 1966 by van Laere.

distribution

The frequency is specified with less than 1 in 1 million, the inheritance occurs in about half of those affected autosomal - recessive . About 58 cases have been described so far. The ratio of girls to boys affected is 3: 1.

Classification and causes

Currently, a distinction is made between two forms according to the underlying change:

  • Type I with mutations in the SLC52A3 gene at location 20p13
  • Type II with mutations in the SLC52A2 gene at location 8q24.3

Clinical manifestations

Clinical criteria are:

  • Start in childhood, from infancy up to the age of 30
  • Deafness in both ears due to increasing sensitivity to hearing
  • Motor failures of the VII. ( Facial nerve ), IX. ( Nervus glossopharyngeus ) and XI. ( Nervus accessoryius ) cranial nerves, less often other or further

In addition, there may be: anterior horn signs on the limbs, difficult breathing, weak limbs, sagging face, optic atrophy , retinitis pigmentosa , vegetative disorders and seizures .

diagnosis

The diagnosis is made clinically. Confirmation and the exclusion of other diseases can be made through neurophysiological examinations, magnetic resonance imaging , muscle biopsy and CSF examination.

Differential diagnosis

The following are to be distinguished:

therapy

By steroids and immunoglobulins , the disease can some time be stopped. the syndrome will be stabilized for a period of time.

Prospect of healing

The prognosis is inconsistent: Almost half of them will deteriorate continuously. After the onset of symptoms, a third of patients survive ten or more years.

literature

  • C. Spagnoli, MC Pitt, S. Rahman, C. de Sousa: Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features. In: European journal of pediatric neurology: EJPN: official journal of the European Pediatric Neurology Society. Vol. 18, No. 2, 2014, ISSN  1532-2130 , pp. 231-234, doi : 10.1016 / j.ejpn.2013.09.006 , PMID 24206674 .
  • M. Bandettini Di Poggio, M. Monti Bragadin, L. Reni, L. Doria-Lamba, C. Cereda, M. Pardini, L. Roccatagliata, A. Rossi, A. Schenone: Brown-Vialetto-Van Laere syndrome: clinical and neuroradiological findings of a genetically proven patient. In: Amyotrophic lateral sclerosis & frontotemporal degeneration. Vol. 15, No. 1–2, March 2014, ISSN  2167-9223 , pp. 141–144, doi : 10.3109 / 21678421.2013.837931 , PMID 24079556 .

Individual evidence

  1. ↑ a b G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger (eds.): The clinical syndromes. Syndromes, sequences and symptom complexes. 7th edition. Urban & Schwarzenberg, 1990, ISBN 3-541-01727-9 , p. 109.
  2. ^ CH Brown: Infantile amyotrophic lateral sclerosis of the family type. In: Journal of Nervous & Mental Disease. 19. No. 11, 1894, pp. 707-716
  3. ↑ E. Vialetto: Contibuto alla forma ereditaria della paralisi bulbar progressiva. In: Riv. Sper. Frenaite. Vol. 40, 1936, pp. 1-24
  4. ^ J. Van Laere: Paralysie bulbo-pontine chronique progressive familial avec surdité: un cas de syndrome de Klippel-Trenaunay dans la meme fratrie (problemes diagnostiques et genetiques). In: Revue neurologique. Vol. 115, No. 2, 1966, ISSN  0035-3787 , pp. 289-295, PMID 5969547 .
  5. ↑ a b c d Brown-Vialetto-van Laere syndrome. In: Orphanet (Rare Disease Database).
  6. ↑ BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2.  In: Online Mendelian Inheritance in Man . (English)