Pontocerebellar hypoplasia

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Classification according to ICD-10
Q04.3 Other reduction deformities of the brain
ICD-10 online (WHO version 2019)

The Pontozerebelläre hypoplasia is a very rare congenital progressive disease of the brain , with a minority development ( hypoplasia ) of the cerebellum and the bridge is associated.

Clinically, there are severe developmental disorders, often with pronounced swallowing disorders and associated frequent aspirations .

Classification

According to the clinical picture, different types are distinguished:

  • In type I (PCH1), synonym: Norman disease , there are serious motor disorders with pronounced spasticity , which usually lead to death during the first year of life; Since the motor neurons of the spinal cord also perish in type I , the clinical picture can be reminiscent of acute childhood spinal muscular atrophy (Werdnig-Hoffmann type).
  • The type II (PCH2) is characterized by a progressive microcephaly with movement disorders ( chorea / dystonia ) or spasticity and partly epileptic seizures characterized, during the spinal cord has no abnormalities. It is an autosomal - recessive inherited disease . The most common responsible mutation is A307S / A307S in the TSEN54 section ( chromosome 17 , locus q25). Other children, some with the most severe severity of the disease and involving the cerebrum , have been described. Life expectancy is limited.
  • The type III (PCH3), synonyms: cerebellar atrophy progressive microcephaly; PCH with optic atrophy; PCH without dyskinesia; CLAM , similar to type II, also has optic atrophy. Due to the frequent occurrence within a family, a genetic disease can also be assumed here. Here, too, there is a limited life expectancy.
  • The type IV (PCH4) is similar to Type II. The additionally olive affected (olivopontocerebelläre hypoplasia), the curve is described as severe and life expectancy is low.
  • The Type V ( PCH5 ) is similar to Type IV, but has the onset of the disease in the womb "fetal-onset".
  • Further types are described in individual cases that cannot be assigned to the others.

literature

  • Yasmin Namavar, Peter G Barth, Bwee Poll-The, Frank Baas: Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia. In: Orphanet Journal of Rare Diseases. Volume 6, 2011, p. 50, doi: 10.1186 / 1750-1172-6-50

Individual evidence

  1. ^ RM Norman: Cerebellar hypoplasia in Werdnig-Hoffmann disease. In: Arch Dis Child . 36, 1961, pp. 96-101. PMID 13729575
  2. ↑ Pontocerebellar hypoplasia type 1. In: Orphanet (database for rare diseases).
  3. ↑ PG Barth et al .: The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees. In: Neurology. 45, 1995, pp. 311-317. PMID 7854532
  4. ↑ Pontocerebellar hypoplasia type 2. In: Orphanet (database for rare diseases).
  5. ↑ BS Budde, Y. Namavar, PG Barth, BT Poll-The, G. Nürnberg, C. Becker, F. van Ruissen, MA Weterman, K. Fluiter, ET te Beek, E. Aronica, MS van der Knaap, W Höhne, MR Toliat, YJ Crow, M. Steinlin, T. Voit, F. Roelens, W. Brussel, K. Brockmann, M. Kyllerman, E. Boltshauser, G. Hammersen, M. Willemsen, L. Basel-Vanagaite , I. Krägeloh-Mann, LS de Vries, L. Sztriha, F. Muntoni, CD Ferrie, R. Battini, RC Hennekam, E. Grillo, FA Beemer, LM Stoets, B. Wollnik, P. Nürnberg, F. Baas : tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. In: Nat Genet. Aug 17, 2008. PMID 18711368
  6. ↑ JG Leroy et al: Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype. In: Acta Neuropathol. 114, 2007, pp. 387-399. PMID 17628812
  7. ^ A. Rajab et al.: A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21. In: Neurology. 60, 2003, pp. 1664-1667. PMID 12771259
  8. ↑ RF Hevner: Progress on pontocerebellar hypoplasia. In: Acta Neuropathol. 114, 2007, pp. 401-402. PMID 17710422 (review article)
  9. ↑ Pontocerebellar hypoplasia type 3. In: Orphanet (database for rare diseases).
  10. ↑ Pontocerebellar hypoplasia type 4. In: Orphanet (database for rare diseases).
  11. ↑ Pontocerebellar hypoplasia type 6. In: Orphanet (database for rare diseases).
  12. ↑ Pontocerebellar hypoplasia type 7. In: Orphanet (database for rare diseases).
  13. ↑ Pontocerebellar hypoplasia type 8. In: Orphanet (database for rare diseases).
  14. ↑ Pontocerebellar hypoplasia type 9. In: Orphanet (database for rare diseases).

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