Lissencephaly

The lissencephaly in humans is a malformation of the brain. Be conceptually distinguished several forms: The complete lack of Gyrierung ( gyrus = Swirl, here: gyrus ) is called agyria, reductions in cerebral convolutions are summarized under the term microgyria magnifications under the term macrogyria. The term Pachygyria a reduced Gyrierung with thickened / coarsened convolutions is meant.

When lissencephaly is the congenital absence or a structure peculiarity of convolutions ( gyri ) of the brain. The consequence of this disorder is a so-called smooth brain that really stand out for a relatively smooth ( = Lissus ) surface of the cerebral cortex (cortex cerebri).

The ICD -10 code for the lissencephaly is Q04.3.

Classification

  • Type I: lissencephaly without hydrocephalus, often other craniofacial anomalies, see Miller - Dieker syndrome
  • Type II: with hydrocephalus and other brain malformations Walker - Warburg syndrome
  • Cerebro - oculo - muscular syndrome

Diagnosis

Typically, the suspect during an ultrasound examination in the womb or shortly after birth arises. A diagnosis can be made by imaging by MRI.

Since the normal folding of the cerebral cortex occurs after the 24th week of pregnancy, a diagnosis of absence Gyrierung this is also not possible before!

Symptoms and complaints

The nature and severity of the symptoms depend on the severity of the abnormality, for example,

  • Malformations of internal organs
  • Malformations of the brain
  • Feeding disorders and swallowing problems
  • Difficulty breathing, shortness of breath and frequent lung infections
  • Spastic symptoms and cramps
  • Seizures
  • Visual impairment or hearing impairment
  • Delay of physical and psychomotor development
  • Severe mental retardation, partially at the level of a baby
  • Depending on the severity lissencephalies lead after a few months of life to life years for child's death

Causes

The malformation occurs during the first one to four months of prenatal ( = prenatal ) development of the child.

Cause is a migration disorder of cortical neurons. The malformation may be genetically predisposed, but arise, for example by poisoning, viral infections or chromosomal features and be with conditionally.

Consequences and complications

Due to the malformation of the brain leads to severe mental retardation and delayed psychomotor. The children remain partly on the level of development of a baby standing, ie, they can not eat and drink independently. It follows that they must be fed through a nasogastric tube or a PEG usually. You can not walk and talk, learn their head not to keep yourself pedaling hard or very plump, some have a very pronounced forehead and big teeth. After a few months of life, children begin to spastic to fäusteln.

There are also pronounced physical symptoms such as visual and hearing impairment, dysphagia, respiratory problems ( with frequent lung infections ) and epileptic syndromes.

A lissencephaly is often an anatomical anomaly in the context of syndromes ( Zellweger syndrome or New Laxova syndrome ) or other special moves by itself: eg microcephaly. The malformations in the brain epileptogenic effect, ie the risk that an epilepsy developed (eg, West syndrome / BNS epilepsy) is higher than average.

Rare special forms of lissencephaly are the Borth syndrome, Fukuyama syndrome and Norman - Roberts syndrome.

Treatment

A causal treatment of lissencephaly, there is not. It is more than possible to treat the individual symptoms, thereby extending the life expectancy of some child.

Congenital disorder Miller–Dieker syndrome Walker–Warburg syndrome Spasm Psychomotor education
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