Currarino Syndrome

from Wikipedia, the free encyclopedia
Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The currarino syndrome or Currarino triad is a congenital malformation with a norektaler, s acral malformation and p räsakraler mass, hence the acronym ASP association .

The disease was first described in 1926 by the US surgeon R. LJ Kennedy , the triad of symptoms (triad) in 1981 by the US pediatric radiologist G. Currarino .

Possibly the disease is related to familial caudal dysgenesis .

distribution

The inheritance is autosomal dominant . The frequency is given as 1–9 / 100,000. A good third of the patients show pronounced impairments, a further third show abnormalities in the X-ray , 4% are symptom-free. Women are more often affected. The disease often manifests itself immediately after birth.

root cause

The etiology lies in a faulty separation between neuroectoderm and endoderm . The disease is heterogeneous, around 30% occur sporadically, mutations cannot always be detected. The disease is often based on mutations in the MNX1 gene at location 7q36.3.

Clinical manifestations

Clinical criteria are:

  • Anorectal abnormalities (stenosis, atresia, or fistula)
  • Sacrum with bony defects
  • Presacral mass such as ventral meningocele , teratoma

As a rule, there is partial agenesis of the coccyx with a ventral mass, the first sacral vertebra is not affected. The mass can be a ventral meningocele , an enteral cyst, or a teratoma .

diagnosis

The diagnosis can be made in infancy by means of sonography, supplemented by x-rays and magnetic resonance imaging . In the X-ray image, the (remaining) sacrum resembles a sickle and is therefore also known as the “ scimitar symbol”.

In more than half of the affected patients there is a hidden spinal dysraphia , so that if necessary, examinations in the direction of tethered cord should be carried out.

This syndrome must also be considered in all patients with chronic constipation .

If the changes are less pronounced, the diagnosis is sometimes only made in adulthood.

therapy

Anal atresia is treated immediately after birth. The time for an operative resection of the mass depends on its size and type.

literature

  • T. Monclair, T. Lundar, B. Smevik, I. Holm, KH Ørstavik: Currarino syndrome at Rikshospitalet 1961–2012. In: Tidsskrift for den Norske lægeforening: tidsskrift for Praktisk medicin, ny række. Vol. 133, No. 22, November 2013, ISSN  0807-7096 , pp. 2364-2368, doi: 10.4045 / tidsskr.13.0352 , PMID 24287836 .
  • D. Vogl, KA Riel: Presacral tumor with sacral meningocele. In: Journal for Pediatric Surgery: organ of the German, Swiss and Austrian Society for Pediatric Surgery = Surgery in infancy and childhood. Vol. 43, No. 5, October 1988, ISSN  0174-3082 , pp. 361-364, doi: 10.1055 / s-2008-1043487 , PMID 3239247 .
  • C. Janneck, W. Holthusen: The Currarino Trias. Observation of 9 other cases. In: Journal for Pediatric Surgery: Organ of the German, Swiss and Austrian Society for Pediatric Surgery = Surgery in infancy and childhood. Vol. 43, No. 2, April 1988, ISSN  0174-3082 , pp. 112-116, doi: 10.1055 / s-2008-1043430 , PMID 3388981 .

Individual evidence

  1. ↑ a b c Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ^ RLJ Kennedy: An unusual rectal polyp: anterior sacral meningocele. In: Surgery, Gynecology and Obstetrics , Vol. 43, 1926, pp. 803-804
  3. ↑ G. Currarino, D. Coln, T. Votteler: Triad of anorectal, sacral, and presacral anomalies. In: American Journal of Roentgenology . Vol. 137, No. 2, August 1981, ISSN  0361-803X , pp. 395-398, doi: 10.2214 / ajr.137.2.395 , PMID 6789651 .
  4. ↑ a b c d Currarino syndrome. In: Orphanet (Rare Disease Database).
  5. ^ Currarino syndrome.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ MJ Kole, JS Fridley, A. Jea, RJ Bollo: Currarino syndrome and spinal dysraphism. In: Journal of neurosurgery. Pediatrics. Vol. 13, No. 6, June 2014, ISSN  1933-0715 , pp. 685-689, doi: 10.3171 / 2014.3.PEDS13534 , PMID 24745342 .
  7. ↑ T. Riebel, J. Köchling, I. Scheer, J. Oellinger, A. Reis: Currarino syndrome: variability of the imaging findings in 22 molecular-genetic (HLXB9 mutation) patients from five families. In: RöFo: Advances in the field of X-rays and nuclear medicine. Vol. 176, No. 4, April 2004, ISSN  1438-9029 , pp. 564-569, doi: 10.1055 / s-2004-812948 , PMID 15088182 .
  8. ^ R. Kassir, D. Kaczmarek: A late-recognized Currarino syndrome in an adult revealed by an anal fistula. In: International journal of surgery case reports. Vol. 5, No. 5, 2014, ISSN  2210-2612 , pp. 240-242, doi: 10.1016 / j.ijscr.2014.02.011 , PMID 24704728 , PMC 4008847 (free full text).