Dysrhaphy
| Classification according to ICD-10 | |
|---|---|
| Q05 | Spina bifida |
| Q76.0 | Congenital malformations of the spine and the bony thorax |
| ICD-10 online (WHO version 2019) | |
Dysrhaphia (from the Greek ῥαφή Rhaphe , German 'seam' ) describes a disease with a disruption of the closure of the midline during embryonic development.
Usually this refers to a group of congenital malformations due to disturbed closure of the neural tube in the area of the skull, the spine and the spinal cord , in which the neural plate of the embryo does not close into a tube as usual, but remains more or less open until birth. The result is - depending on the extent - disturbances in the nerve supply below the incorrectly closed height. The affected children often have congenital skin changes, spinal curvatures and malformations of the arms and legs at the same time . An insufficient supply of the pregnant woman with the vitamin folic acid increases the malformation rate.
Important representatives are:
- Dandy Walker malformation with a terminal disorder at the level of the fourth ventricle
- Spina bifida with division or absence of the spinous process on one or more vertebral bodies
- Meningoceles with localized fissures in the spine through which parts of the spinal cord protrude in a sack-like manner
- Meningomyelocele with protruding parts of the spinal cord, possibly complicated by fat parts to form lipomeningomyelocele
- Diastematomyelia is a split in the spinal cord in half due to a spur-like septum within the spine
- Rachischisis and myeloschisis in the absence of closure of the spinal cord itself
- Embryonic arachnoid cyst with disturbance of the closure of the dura
As a result of the embryonic disorder, only tissue abnormalities such as dermoid cyst , teratoma or lipoma are sometimes present.
Currarino syndrome is a special form .
All of these malformations cause paralysis of the arms and legs, pain, spasticity , perception disorders , bladder / bowel emptying disorders and other neurological symptoms to varying degrees . Lighter dysrhaphs can damage the spinal cord after a few years or fix it to the spine in such a way that it is increasingly stretched and overloaded as the body grows ( tethered cord ).
The diagnosis can already during pregnancy sonographically provided. This often leads to the typical ethical problems of prenatal diagnostics . Children with dysrhaphs are mostly viable, but often have various surgical interventions and lifelong disabilities to expect.
The term "dysrhaphy" or dysrhaphic disorder also includes midline defects such as frontonasal dysplasia .
literature
- Olav Jansen, Ulrich Stephani (ed.): Malformations and damage to the CNS in early childhood. Georg Thieme Verlag, 2007, ISBN 978-3-13-137591-9 , p. 47 ff.
