Autosomal recessive hydrocephalus
| Classification according to ICD-10 | |
|---|---|
| Q03.9 | Congenital hydrocephalus |
| ICD-10 online (WHO version 2019) | |
The autosomal recessive hydrocephalus is a very rare form of congenital hydrocephalus with autosomal recessive inheritance.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
Depending on the underlying mutation , the following types can be distinguished:
- HYC1 with mutations in CCDC88C - gene on chromosome 14 locus q32.11-q32.12
- HYC2 with mutations in the MPDZ gene on chromosome 9 locus p23
- HYC3 with mutations in the WDR81 gene on chromosome 17 locus p13.3
The X-linked hereditary congenital hydrocephalus (HYCX) with mutations in the L1CAM gene locus q28, which codes for the neural cell adhesion molecule L1, must be distinguished .
Diagnosis and treatment corresponds to that of hydrocephalus of a different origin.
Often there is a aqueduct or other obstruction of the third ventricle.
literature
- R. Schockaert, J. Janssens: [Familial congenital hydrocephalus]. In: Bruxelles medical. Volume 32, Number 39, September 1952, pp. 2011-2019, PMID 13019226 .
- J. Halliday, CW Chow, D. Wallace, DM Danks: X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia. In: Journal of Medical Genetics . Volume 23, Number 1, February 1986, pp. 23-31, PMID 3950933 , PMC 1049536 (free full text).
- AB Ekici, D. Hilfinger, M. Jatzwauk, CT Thiel, D. Wenzel, I. Lorenz, E. Boltshauser, TW Goecke, G. Staatz, DJ Morris-Rosendahl, H. Sticht, U. Hehr, A. Reis, A. Rauch: Disturbed Wnt Signaling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum. In: Molecular syndromology. Volume 1, number 3, September 2010, pp. 99-112, doi: 10.1159 / 000319859 , PMID 21031079 , PMC 2957845 (free full text).
Individual evidence
- ↑ a b Hydrocephalus, autosomal recessive. In: Orphanet (Rare Disease Database).
- ^ Hydrocephalus, congenital, 1st In: Online Mendelian Inheritance in Man . (English)
- ^ Hydrocephalus, congenital, 2, with or without brain or eye anomalies. In: Online Mendelian Inheritance in Man . (English)
- ^ Hydrocephalus, congenital, 3, with brain anomalies. In: Online Mendelian Inheritance in Man . (English)
- ↑ HYCX. In: Online Mendelian Inheritance in Man . (English)
- ↑ P. Lapunzina, A. Delicado, ML de Torres, MA Mor, RF Pérez-Pacheco, PI Lópes: Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counseling. In: The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. Volume 12, Number 1, July 2002, pp. 64-66, doi: 10.1080 / jmf.12.1.64.66 , PMID 12422912 .
- ↑ H. Hamada, H. Watanabe, M. Sugimoto, M. Yasuoka, N. Yamada, T. Kubo: Autosomal recessive hydrocephalus due to congenital stenosis of the aqueduct of sylvius. In: Prenatal diagnosis. Volume 19, Number 11, November 1999, pp. 1067-1069, PMID 10589063 .
- ^ E. Müngen, V. Atay, AA Ertekin: Autosomal recessive hydrocephalus due to third ventricle obstruction. In: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics. Volume 91, Number 2, November 2005, pp. 168-169, doi: 10.1016 / j.ijgo.2005.07.011 , PMID 16154573 .
- ↑ CW Chow, PA McKelvie, RM Anderson, EM Phelan, GL Klug, JG Rogers: Autosomal recessive hydrocephalus with third ventricle obstruction. In: American journal of medical genetics. Volume 35, Number 3, March 1990, pp. 310-313, doi: 10.1002 / ajmg.1320350304 , PMID 2178419 .
