Olivo ponto cerebellar 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 Olivo-ponto-cerebellar hypoplasia (OPCH syndrome) is a very rare congenital form of a Pontozerebellären hypoplasia with onset already in the womb.

Synonyms are: olivopontocerebellar hypoplasia, fetal; PCH5; English Olivopontocerebellar hypoplasia, fetal onset

The first description is from 2006 by Millan S. Patel et al .

distribution

The frequency is given as less than 1 in 1,000,000, so far only one family has been described. Inheritance is autosomal - recessive .

root cause

The disease are mutations in TSEN54 - gene on chromosome 17 locus q25.1 basis.

Clinical manifestations

Clinical criteria are: signs of seizures already intrauterine, pronounced hypoplasia of the cerebellum and midbrain

diagnosis

In the nuclear magnetic resonance imaging , a dysplasia of the olivary nucleus , the pons and the cerebellum, in particular of the cerebellar vermis be detected.

A suspected diagnosis can be made during pregnancy using fine ultrasound .

Differential diagnosis

Other forms of PCH are to be distinguished, in particular PCH4.

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. 6, 2011, p. 50, doi: 10.1186 / 1750-1172-6-50

Individual evidence

  1. ↑ 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 .
  2. ↑ a b Pontocerebellar hypoplasia type 5. In: Orphanet (database for rare diseases).
  3. ↑ MS Patel, LE Becker, A. Toi, DL Armstrong, D. Chitayat: Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5? In: American journal of medical genetics. Part A. Vol. 140, No. 6, March 2006, pp. 594-603, doi: 10.1002 / ajmg.a.31095 , PMID 16470708 .
  4. ^ Pontocerebellar hypoplasia type 5.  In: Online Mendelian Inheritance in Man . (English)
  5. ^ Rare Diseases

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