Colpocephaly

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

The Kolpozephalie (from ancient Greek κόλπος kolpos , vagina 'and ancient Greek κεφαλή kephalie , head') is an abnormal shape of the lateral ventricle with disproportional expansion of the posterior horn (Cornu posterius / occipitale) with narrow anterior horn (Cornu anterior / frontale).

Colpocephaly in the skull sonogram in baragenesis

There is an association with various neurological syndromes such as lack of beams , Chiari malformation , lissencephaly and microcephaly .

The first description as "Vesiculocephaly" comes from 1940/41 by the German-American psychiatrist Clemens Ernst Benda .

The term "colpozephaly" was coined in 1946 by the neurologist Paul Ivan Yakovlev and the neuropathologist Richard C. Wadsworth.

distribution

The frequency is not known.

In addition to the bar deficiency, the lipoma of the bar and Aicardi syndrome are associated .

In the Online Mendelian Inheritance in Man database , the following syndromes with colpocephaly are listed:

• Autosomal recessive hydrocephalus
• Braddock-Jones-Superneau Syndrome
• Chudley-McCullough syndrome
• Dermatochalasis
• Lissencephaly type 4
• Periventricular nodular heterotopy (PHN)
• Polymicrogyria with optic nerve hypoplasia
• Septo-optic dysplasia
• Multisystem smooth muscle dysfunction syndrome
• Syndromal microphthalmia type 7 (MCOPS7), synonyms: microphthalmia - skin aplasia - sclerocornea; MIDAS syndrome; MLS syndrome; Microphthalmia - skin aplasia - sclerocornea, English Linear skin defects with multiple congenital anomalies , X-linked dominant , mutations in the HCCS gene on Xp22.2
• Taybi-Linder syndrome
• Temtamy Shalash Syndrome
• Zellweger Syndrome
• Zimmermann-Laband Syndrome

Clinical manifestations

The clinical picture and thus any impairments depend on the underlying disease.

diagnosis

The diagnosis results from the imaging mostly first with sonography , possibly additionally with magnetic resonance tomography for the detection of heterotopias. It can be done prenatally .

Sometimes the diagnosis is only made in adulthood.

literature

• JH Cheong, CH Kim, MS Yang, JM Kim: Atypical meningioma in the posterior fossa associated with colpocephaly and agenesis of the corpus callosum. In: Acta neurochirurgica. Supplement. Volume 113, 2012, pp. 167-171, doi : 10.1007 / 978-3-7091-0923-6_33 , PMID 22116445 .
• S. Puvabanditsin, E. Garrow, Y. Ostrerov, D. Trucanu, M. Ilic, JV Cholenkeril: Colpocephaly: a case report. In: American journal of perinatology. Volume 23, Number 5, July 2006, pp. 295-297, doi: 10.1055 / s-2006-947161 , PMID 16799912 .

Individual evidence

1. ↑ ^{a b} Radiopaedia
2. ↑ P. Reimer, PM Parizel, F.-A. Stichnoth (Editor): Clinical MR Imaging. A practical approach. Springer, 2nd edition 2006, ISBN 3-540-31530-6 , pp. 87, 492
3. ↑ P. Volpe, D. Paladini et al. a .: Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. In: Ultrasound in Obstetrics and Gynecology. 27, 2006, p. 509, doi: 10.1002 / uog.2774 .
4. ↑ PI Yakolev, RC Wadsworth: Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with fused lips. In: Journal of neuropathology and experimental neurology. Volume 5, April 1946, pp. 116-130, PMID 21026933 .
5. ↑ W. Schuster, D. Färber (editor): Pediatric Radiology Vol. I. Imaging Diagnostics. Springer 1996, ISBN 3-540-60224-0 , p. 459
6. ↑ Hydrocephalus, autosomal recessive. In: Orphanet (Rare Disease Database).
7. ↑ HYDROCEPHALUS, CONGENITAL, 2, With or Without BRAIN OR EYE ANOMALIES.  In: Online Mendelian Inheritance in Man . (English)
8. ^ Craniosynostosis - Dandy-Walker malformation - hydrocephalus. In: Orphanet (Rare Disease Database).
9. ↑ HYDROCEPHALUS, AUTOSOMAL DOMINANT.  In: Online Mendelian Inheritance in Man . (English)
10. ↑ CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB.  In: Online Mendelian Inheritance in Man . (English)
11. ↑ heterotopia, nodular periventricular. In: Orphanet (Rare Disease Database).
12. ↑ PERIVENTRICULAR NODULAR HETEROTOPIA 6; PVNH6.  In: Online Mendelian Inheritance in Man . (English)
13. ^ Polymicrogyria with optic nerve hypoplasia. In: Orphanet (Rare Disease Database).
14. ↑ CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN Malformations 8.  In: Online Mendelian Inheritance in Man . (English)
15. ↑ Syndrome of multisystem smooth muscle dysfunction. In: Orphanet (Rare Disease Database).
16. ↑ Multisystemic smooth muscle dysfunction syndrome.  In: Online Mendelian Inheritance in Man . (English)
17. ↑ Microphthalmia-linear skin defect syndrome. In: Orphanet (Rare Disease Database).
18. ^ Linear skin defects with multiple congenital anomalies 1.  In: Online Mendelian Inheritance in Man . (English)
19. ↑ EL Bartolomé, JC Cottura, R. Britos Frescia, RO Domínguez: Asymptomatic colpocephaly and partial agenesis of corpus callosum. In: Neurologia. Volume 31, number 1, 2016 Jan-Feb, pp. 68-70, doi: 10.1016 / j.nrl.2013.11.001 , PMID 25440066 .
20. ^ A. Ansary, CM Manjunatha, S. Ibhanesebhor: Prenatal diagnosis of colpocephaly with absent corpus callosum. In: Scottish medical journal. Volume 60, number 1, February 2015, pp. E19 – e23, doi: 10.1177 / 0036933014563460 , PMID 25468365 .
21. ↑ CC Esenwa, DE Leaf: Colpocephaly in adults. In: BMJ Case Reports. Volume 2013, May 2013, S., doi: 10.1136 / bcr-2013-009505 , PMID 23704444 , PMC 3669935 (free full text).

Web links

• Rare Diseases

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