Fowler syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q00.0 Anencephaly
Q03.- Congenital hydrocephalus
ICD-10 online (WHO version 2019)

The term Fowler syndrome describes a congenital disease with a vascular change affecting the brain (zebrebral vasculopathy ) and, as a result, tissue destruction with hydrocephaly or (hydro) anencephaly .

Not to be confused is also known as Fowler's Syndrome called Fowler-Christmas-Chapple syndrome , which refers to a bladder dysfunction in young women due to a malfunction of the bladder sphincter and frequently associated with polycystic ovary syndrome occurs.

Synonyms are: hydrocephaly / hydranencephaly due to cerebral vasculopathy ; Proliferative vasculopathy and hydranencephaly / hydrocephaly; Vasculopathy, encephaloclastic proliferative; EPV; Cerebral vasculopathy, glomeruloid proliferative ; HYDRANENCEPHALY, FOWLER TYPE; English cerebral proliferative glomeruloid vasculopathy

The name refers to the first author of the first description from 1972 by M. Fowler and colleagues.

distribution

The frequency is not known, the inheritance is done autosomal - recessive .

root cause

The disease is based on mutations in the FLVCR2 gene at the gene locus 14q24.3.

pathology

As a result of a vascular malformation , the developing central nervous system is already permanently impaired or partially destroyed in the womb. The malformation results from abnormal angiogenesis, underlying genetic changes are not yet known.

literature

  • I. Witters, P. Moerman, K. Devriendt, P. Braet, D. Van Schoubroeck, FA Van Assche, JP Fryns: Two siblings with early onset fetal akinesia deformation sequence and hydranencephaly: further evidence for autosomal recessive inheritance of hydranencephaly, fowler type. In: American journal of medical genetics. Volume 108, Number 1, February 2002, pp. 41-44, PMID 11857548 .
  • E. Meyer, C. Ricketts, NV Morgan, MR Morris, S. Pasha, LJ Tee, F. Rahman, A. Bazin, B. Bessières, P. Déchelotte, MT Yacoubi, M. Al-Adnani, T. Marton, D. Tannahill, RC Trembath, C. Fallet-Bianco, P. Cox, D. Williams, ER Maher: Mutations in FLVCR2 are associated with proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome (Fowler syndrome). In: American Journal of Human Genetics . Volume 86, number 3, March 2010, pp. 471-478, doi: 10.1016 / j.ajhg.2010.02.004 , PMID 20206334 , PMC 2833392 (free full text).

Individual evidence

  1. ↑ a b c Fowler syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Cobfoundation ( Memento of the original from October 3, 2015 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice.  @1@ 2Template: Webachiv / IABot / www.cobfoundation.org
  3. ^ Rare Diseases
  4. ↑ M. Fowler, R. Dow, TA White, CH Greer: Congenital hydrocephalus-hydrencephaly in five siblings, with autopsy studies: a new disease. In: Developmental medicine and child neurology. Vol. 14, No. 2, April 1972, pp. 173-188, PMID 4555262 .
  5. ↑ Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ B. Bessières-Grattagliano, B. Foliguet, L. Devisme, L. Loeuillet, P. Marcorelles, M. Bonnière, A. Laquerrière, C. Fallet-Bianco, J. Martinovic, S. Zrelli, N. Leticee, V Cayol, HC Etchevers, M. Vekemans, T. Attie-Bitach, F. Encha-Razavi: Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases. In: European journal of medical genetics. Vol. 52, No. 6, 2009 Nov-Dec, pp. 386-392, doi: 10.1016 / j.ejmg.2009.07.006 , PMID 19635601 .