Cyclopia

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Classification according to ICD-10
Q87.0 Congenital malformation syndromes with predominant involvement of the face
ICD-10 online (WHO version 2019)
Child with Patau Syndrome and Cyclopia. A proboscis can be seen above the eye. ( Gestational age 37W + 2D)

Cyclopia (from ancient Greek Κύκλωψ Kyklops "circle-eyed") is a rare facial skull malformation in which the two eye systems in the fetus merge in a bony eye socket ( orbit ). An incomplete fusion of the eyes in an orbit is called synophthalmia. The disorder is usually associated with holoprosencephaly and is then its most severe form. Because of the severe malformations, cyclops are not viable. Cyclopia occurs in both humans and the animal kingdom.

Epidemiology

Cyclopia is a rare malformation. The prevalence is 1 in 100,000 births. Over 60% of children are born alive. Female children predominate with almost 60%. There are no regional clusters.

causes

Chromosomal aberration , mainly trisomy 13 , is present in around 30% of cases . There are no significant links with factors such as the mother's high age at birth or twin and multiple pregnancies . Teratogenic factors during pregnancy can be disorders of cholesterol biosynthesis , viral diseases , alcohol consumption by the mother or gestational diabetes . There have been case reports of cyclopia as a result of teratogenic effects of drugs.

In sheep, the alkaloid effect of Veratrum californicum can trigger cyclopia when consumed by the pregnant ewe. Treatment with fenbendazole can lead to cyclopia in sheep even in double doses.

Emergence

Cyclopia has its origin in a faulty or missing closure of the neural tube . Due to the missing or incomplete separation of the eye primordia, the nose can not migrate downwards during embryonic development and remains above the eye as proboscis. Cyclopia is often associated with other severe malformations due to the underlying neural tube defect.

Clinical appearance

Depending on the degree of severity, patients with cyclopia have median monophthalmia , synophthalmia or anophthalmia . There is a trunk-like extension on the forehead, which is called proboscis. This represents the original nasal system and can be shaped like a nose. The nose can be doubled, single, or absent. If it is available, it can only have one opening. The rest of the physical development of the child can be age-appropriate and inconspicuous.

Cyclopia in a lamb

Diagnosis

The disease can be diagnosed sonographically from the 14th week of pregnancy. In the ultrasound image of the face there is typically only one orbital system. The other changes typical of alobar holoprosencephaly are also evident . A cytogenetic examination e.g. B. by amniocentesis can reveal a possibly underlying chromosome aberration within the scope of prenatal diagnosis .

Therapy and prophylaxis

Therapy is not possible. Children with cyclopia are not viable. They die within the first week of life. If a diagnosis is made during pregnancy, there is an indication for termination of pregnancy . If there is a genetic defect or chromosome aberration, genetic counseling should be given to the parents.

In veterinary medicine, the inheritance should be precisely identified and the animals concerned should then be sorted out from the breeding pool. If there is an exogenous teratogenic cause, the substance (e.g. contaminated feed) should be identified and further intake stopped.

History and cultural aspects

Head of the Cyclops Polyphemus (painting by Johann Heinrich Wilhelm Tischbein 1802)
African elephant skull . Due to the lack of bony reconstruction of the eyes, the nasal opening appears on the skeleton like a central eye socket.

The term cyclopia is derived from the cyclops . These are characters from Greek mythology . A single eye on the forehead is characteristic of Cyclops. Even if the word meaning derives from the ancient Greek word Κύκλωπες ( circle-eyed ), Cyclops were often depicted with normal almond-shaped eyes in art. The best-known cyclops in Greek mythology is the giant Polyphemus , son of Poseidon , whom Odysseus met in Homer's epic The Odyssey .

The origin of the belief in the Cyclops seems to go back to prehistoric and ancient finds of fossil elephant skulls. In the case of an elephant's skull, the centrally located nostril can easily be mistaken for a single eye socket, since the eyes of elephants are not limited by a bony eye socket . This theory would explain why in mythology Cyclops are often giants at the same time .

Another possible origin for the Cyclops is the mythological processing of the human Cyclopia.

Web links

Commons : Cyclopean  - Collection of Images

Individual evidence

  1. ↑ a b c d e f g Eberhard Merz Sonographic Diagnostics in Gynecology and Obstetrics: Textbook and Atlas (Volume 2: Obstetrics). 2nd Edition. Thieme Verlag, 2002, ISBN 3-13-701202-3 .
  2. ↑ a b c d e f g IM Orioli, E. Amar, MK Bakker, E. Bermejo-Sánchez, F. Bianchi, MA Canfield, M. Clementi, A. Correa, M. Csáky-Szunyogh, ML Feldkamp, ​​D. Landau, E. Leoncini, Z. Li, RB Lowry, P. Mastroiacovo, M. Morgan, OM Mutchinick, A. Rissmann, A. Ritvanen, G. Scarano, E. Szabova, EE Castilla: Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. In: American journal of medical genetics. Part C, Seminars in medical genetics. Volume 157C, Number 4, November 2011, pp. 344-357, ISSN  1552-4876 . doi: 10.1002 / ajmg.c.30323 . PMID 22006661 . (Review).
  3. ↑ József Tóth, Josef Hollerrieder and Peter T. Sótonyi: Ophthalmology in horses: Atlas and textbook. Schattauer 2010, ISBN 978-3-7945-2638-3 .
  4. ↑ Horst Wissdorf, Hartmut Gerhards and Bernhard Huskamp: Practice-oriented anatomy and propaedeutics of the horse. Schaper M. & H., 2002, ISBN 3-7944-0216-2 .
  5. ^ A b Erwin Dahme, Eugen Weiss: Outline of the special pathological anatomy of domestic animals. Thieme Verlag, 2007, ISBN 3-8304-1048-4 .
  6. ↑ A. olejek, P. Bodzek, M. Skutil, J. Zamłyński, P. Stołtny: Cyclopia-literature review and a case report. In: Ginekologia polska. Volume 82, Number 3, March 2011, pp. 221-225, ISSN  0017-0011 . PMID 21721460 . (Review).
  7. ↑ Wolfgang Elmar Paulus, Christian Lauritzen: Medicines and pollutants in pregnancy and lactation (Volume 1). Spitta Verlag, 2003, ISBN 978-3-934211-39-1 .
  8. ^ Margitta Albinus: Hager's Handbook of Pharmaceutical Practice: Substances E – O. Springer Verlag 1993.
  9. ↑ a b Ulrich Drews: Pocket Atlas of Embryology. 2nd Edition. Thieme Verlag, Stuttgart 2006, ISBN 3-13-109902-X , p. 356.
  10. ^ Christof Sohn, Wolfgang Holzgreve: Ultrasound in gynecology and obstetrics. 3rd revised and expanded edition, Thieme Verlag, 2003, ISBN 3-13-101972-7 .
  11. ↑ Rolf Becker: Sonographic malformation diagnosis: teaching atlas of fetal ultrasound examination. Thieme Verlag, 2003, ISBN 3-13-129651-8 .
  12. ↑ a b c Jürgen Kunze: Wiedemann's Atlas of Clinical Syndromes: Phenomenology, Etiology, Differential Diagnosis. Schattauer, 2009, ISBN 3-7945-2657-0 .
  13. ↑ Walter Busch, Wolfgang Methling, Werner M. Amselgruber: Animal health and animal disease theory. Parey at Mvs, 2004, ISBN 3-8304-4092-8 .
  14. ^ Catalog of the scientific collections of the Humboldt University of Berlin: Presentation of an elephant skull as a cyclops (accessed on November 21, 2012)
  15. ↑ Eugen Holländer: Miracle, miracle birth and miracle figure in single sheet prints of the fifteenth to eighteenth centuries: A cultural-historical study. Unikum Verlag, 2012. Carefully edited reprint of the original edition from 1921.