MPPH syndrome

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Classification according to ICD-10
Q04.8 Other specified congenital malformations of the brain
ICD-10 online (WHO version 2019)

The MPPH syndrome , acronym for M egalenzephalie , P olymikrogyrie , postaxial P olydaktylie and H ydrozephalus , is a very rare congenital disease with the names forming the main features.

The first description comes from the year 1998 by the Essen pediatrician Gudrun Göhlich-Ratmann and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far about 60 affected people have been reported. Inheritance is partly autosomal dominant .

root cause

Depending on the underlying mutation , the following types can be distinguished:

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis can already be suspected intrauterine .

With the medical imaging malformations can cerebral cortex , in particular Polymicrogyria , progressive enlargement of the ventricle of the brain , caudal shifted cerebellar tonsils until Chiari malformation as well as thickening of the corpus callosum be detected.

Differential diagnostics

The following are to be distinguished:

literature

  • N. Demir, E. Peker ,. Gülşen I, S. Kaba, O. Tu: Megalencephaly, Polymicrogyria, Polydactyly And Hydrocephalus (MPPH) Syndrome: A New Case With Occipital Encephalocele And Cleft Palate. In: Genetic counseling. Volume 26, Number 4, 2015, pp. 381-385, PMID 26852507 .
  • TG Zamora, KD Roberts: Four-year follow-up of megalencephaly, polymicrogyria, postaxial polydactyly and hydrocephalus (MPPH) syndrome. In: BMJ Case Reports. Volume 2013, October 2013, S., doi: 10.1136 / bcr-2012-007826 , PMID 24092603 , PMC 3822249 (free full text).
  • GM Mirzaa, JB Rivière, WB Dobyns: Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP. In: American journal of medical genetics. Part C, Seminars in medical genetics. Volume 163C, Number 2, May 2013, pp. 122-130, doi: 10.1002 / ajmg.c.31361 , PMID 23592320 .
  • WL Osterling, RS Boyer, GL Hedlund, JF Bale: MPPH syndrome: two new cases. In: Pediatric neurology. Volume 44, number 5, May 2011, pp. 370-373, doi: 10.1016 / j.pediatrneurol.2010.12.009 , PMID 21481746 .

Individual evidence

  1. ↑ a b c Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b c d G. Mirzaa: MPPH Syndrome. In: RA Pagon, MP Adam, HH Ardinger et al .: (Editor) GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. PMID 27854409 Gene Reviews
  3. ↑ G. Göhlich-Ratmann, M. Baethmann, P. Lorenz, J. Gärtner, HH Goebel, V. Engelbrecht, HJ Christen, HG Lenard, T. Voit: Megalencephaly, mega corpus callosum, and complete lack of motor development: a previously undescribed syndrome. In: American journal of medical genetics. Volume 79, Number 3, September 1998, pp. 161-167, doi : 10.1002 / (sici) 1096-8628 (19980923) 79: 3 <161 :: aid-ajmg2> 3.0.co; 2-q , PMID 9788554 .
  4. ↑ Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3.  In: Online Mendelian Inheritance in Man . (English)
  7. ^ B. De Keersmaecker, H. Van Esch, D. Van Schoubroeck, F. Claus, P. Moerman, L. De Catte: Prenatal diagnosis of MPPH syndrome. In: Prenatal diagnosis. Volume 33, Number 3, March 2013, pp. 292-295, doi: 10.1002 / pd.4039 , PMID 23348821 .
  8. ^ HG Tore, AM McKinney et al. a .: Syndrome of Megalencephaly, Polydactyly, and Polymicrogyria Lacking Frank Hydrocephalus, with Associated MR Imaging Findings: Fig 1 .. In: American Journal of Neuroradiology. 30, 2009, p. 1620, doi: 10.3174 / ajnr.A1566 .
  9. ↑ Megalencephaly-capillary malformations-polymicrogyria syndrome. In: Orphanet (Rare Disease Database).
  10. ↑ PTEN hamartoma tumor syndrome. In: Orphanet (Rare Disease Database).

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