Caudal regression syndrome

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Classification according to ICD-10
Q89.8 Other specified congenital malformations
ICD-10 online (WHO version 2019)

At the caudal regression syndrome ( English Caudal Regression Syndrome ) If it is a complex malformation syndrome of the lower hull, in particular of the lower spine (spine and sacrum). Sacralagenesis can be seen as a synonym .

The dominant inherited Currarino syndrome with additional space occupation in front of the sacrum must be distinguished.

frequency

The frequency is given as around 1: 25,000–60,000 live births.

root cause

Babygram, missing ribs, missing lumbosacral vertebrae, hypoplasia of the pelvis with frog position of the lower extremities in a premature baby with caudal regression syndrome

The cause is unclear, but there is an increased incidence of maternal diabetes during pregnancy. The time of damage is assumed to be between the 3rd and 7th week of fetal development.

clinic

Depending on the severity of the developmental inhibition, a distinction can be made:

  • Sacral hypoplasia with the absence of individual coccyx and sacral elements
  • Sacralagenesis
  • Lumbar agenesis (lumbosacral agenesis), possibly with further vertebral malformations (segmentation disorders).

Aplasia is found with decreasing frequency in the caudal region of SWK1, LWK1-5, BWK11 or 12, and finally BWK 9.

Depending on the extent of the defects, neurological deficits can occur, which can range from disturbance of the rectal and urinary bladder motor functions ( bladder emptying disorder ) to flaccid paralysis of the lower extremities .

Often the cone or the distal spinal cord (see spinal cord ) is deformed.

Associated are:

Diagnosis

The diagnosis can already be made during the prenatal check-ups using ultrasound.

The gross extent of the malformation can already be recorded on an X-ray overview of the pelvis with the lumbar spine. Magnetic resonance tomography is used for a detailed assessment .

The familial caudal dysgenesis must be distinguished .

Individual evidence

  1. ^ JP Kuhn, TL Slovis, JO Haller (Ed.): Caffey's Pediatric Diagnostic Imaging. 10th edition. Volume I, Mosby 2004, ISBN 0-323-01109-8 , pp. 743f.
  2. ^ JP Kuhn, TL Slovis, JO Haller (Ed.): Caffey's Pediatric Diagnostic Imaging. 10th edition. Volume I, Mosby 2004, ISBN 0-323-01109-8 , p. 313.
  3. ^ Pediatric Radiology. part 1
  4. ↑ JD Sonek, SG Gabbe, MB Landon, LE Stempel, MR Foley, K. Shubert-Moell: Antenatal diagnosis of sacral agenesis syndrome in a pregnancy complicated by diabetes mellitus . In: Am. J. Obstet. Gynecol . tape 162 , no. 3 , March 1990, p. 806-808 , PMID 2180307 .

literature

  • Erich Mayer-Fally: Clinical osteopathy. 2007, p. 108.
  • Pschyrembel: Clinical Dictionary.
  • B. Duhamel: From the mermaid to anal imperforate: The syndrome of caudal regression. In: Archives of Diseases in Childhood. 36 (1961), pp. 152-155 doi: 10.1136 / adc.36.186.152
  • 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 .

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