He Kuzniecky syndrome Is a very rare neurological disorder affecting the cerebral cortex (the outermost part of the brain ). It takes its name from neurologist Ruben Kuzniecky, who described his signs and symptoms in 1991.
It is part of malformations of cortical development (MDC), being a subtype of Polymicrogyria . This refers to the condition in which the brain has more folds than normal, while having very shallow grooves.
It appears to be caused by problems in brain development during the embryonic stage, with some cases having a family history while others arise sporadically. It can already be observed at birth, although at other times it is seen later in childhood.
Mainly characterized by Cognitive impairment , Convulsions And deficits in the functioning of the muscles of the mouth and tongue.
Causes of Kuzniecky's syndrome
As we said, it seems to be due to problems of neuronal migration in the embryonic stage of the individual, which cause alterations in the development of the cerebral cortex.
Neural migration is a process in which the Neuroblasts (Or embryonic cells that are to be converted into neurons and Glial cells ) Travel from the germinal matrix to the cerebral cortex, placing themselves arranged in different layers. Each cell receives instructions to position itself in a specific place in the brain.
As many problems can occur throughout this process, the concrete step in which the failure in Kuzniecky syndrome is still unknown.
It is only known that the problem is in the neuronal migration, which causes an abnormal increase in the number of convolutions (folds) and a greater depth of the furrows in the sides of the two hemispheres ( Fissures of Silvio ). Rolando's fissure may also be affected. These alterations can be observed through a brain scanner.
In most cases, this syndrome appears sporadically while in other rare cases it appears to have an inherited pattern, type Autosomal recessive . Which means that it can be due to some genetic affectation, when receiving the same mutation of a gene both by the mother and the father.
Prevalence
This case is very rare, and its recent discovery has not yet been estimated its prevalence. It is known to seem to affect men and women alike.
symptom
Some already appear over the first 6 months of life, while Various forms of epilepsy Are usually given between 2 and 12 years. It may have different gravities, and may manifest as a slight dysarthria or a complete absence of language. The same can happen with cognitive development.
- Partial paralysis of the muscles on both sides of the face (diplegia), jaw, tongue and throat; Which causes problems for speech ( Dysarthria ), To chew and swallow (dysphagia). This is because the muscles can not be properly controlled.
- Little development of language, with an affected expression and a preserved understanding.
- It is frequently associated with cortical pseudobulbar palsy.
- There may also be involuntary and sudden spasms in the facial muscles.
- Sporadic convulsions .
- Epilepsy : Characterized by uncontrolled electrical discharges of the neurons that provoke involuntary muscular contractions, sensorial alterations and loss of consciousness. They appear to be generalized (affecting both hemispheres).
- EEG : Abnormal.
- Mental impairment from mild to severe.
- Delay in physical, motor and mental development.
- Minor or soft neurological signs.
- In slightly older children it is observed Sialorrhea : Nasal voice, inability to suck a caramel or to imitate movements with the tongue (Vaquerizo Madrid et al., 1996).
- Behavioral or aggressive disorders.
- In 30% of the patients observed by Burneo (2002), malformations were found as Multiple arthrogryposis , Micrognathia or Syndactyly , among other.
Diagnosis
If there are early difficulties in suctioning or feeding problems due to oro-pharyngeal glosses, excessive saliva or movement of the facials, it is best to go to the doctor to check for the disease.
The best diagnosis can be obtained by a thorough physical examination, and a detailed medical history and neurological evaluation.
For the definitive diagnosis it is recommended to examine the brain through some of the following tests:
- Electroencephalography (EEG), recording the electrical impulses of the brain. Children with this syndrome have their own brain wave patterns of epilepsy.
- CT scan (CT).
- Magnetic resonance (MR), which is defined as the most appropriate in this case.
Detection through these micropigitic techniques, with areas thickened in the cerebral cortex and the existence of smooth surfaces in the rolling and sylvan areas, together with other symptoms, would point to the diagnosis of Kuzniecky syndrome.
In children who should have acquired speech, it is important to examine the language and the existence of dysarthria. They would also analyze if there are difficulties to emit certain vowels or concrete sounds.
Prevention and Treatment
Early intervention is essential for those affected by this disease to have a life as satisfying as possible.
Treatment will depend on the signs and symptoms that appear in each individual. The main objective is to mitigate the negative effects that the disease has produced, requiring a coordinated effort of a group of specialists that includes: pediatricians, neurologists, neuropsychologists, physiotherapists and even surgeons.
Interventions will include these aspects:
- Rehabilitation of language.
- Dealing with motor deficits.
- Occupational therapy, with the aim of making the patient as less dependent as possible, to be able to perform without problems in the activities of daily living.
- Antiepileptic therapy: for those with various epilepsy types of this syndrome, which consists of the administration of antiepileptic drugs. In infants can occur what is known as infantile spasms or West syndrome , Which has been shown to be effective in some cases through Hormones corticotropins .
- Callosotomy: In those cases in which the pharmacological treatment is not effective for epilepsy (intractable epilepsy), the surgical removal of certain areas of the brain can be considered as the hard body .
This has shown in many cases a reduction of seizures and a virtually total suppression of atonic seizures, in addition to an improvement in the social behavior of these patients (Burneo, 2002).
References
- Bilateral perisylvian polymicrogyria . (June 7, 2015). Retrieved from the Genetic and Rare Diseases Information Center (GARD).
- Burneo, J.G. (2002). Kuzniecky syndrome. Journal of Neuro-Psychiatry; 65 : 217-222.
- Congenital Bilateral Perisylvian Syndrome . (S.f.). Retrieved on June 16, 2016, from the National Organization for Rare Disorders (NORD).
- Ruben Kuzniecky . (S.f.). Retrieved on June 16, 2016, from Wikipedia.
- Vaquerizo Madrid, J., Catalá Rubio J.M., Gómez Martín, H., Cardesa García, J.J., Guillem Lanuza, F. (1996). Congenital bilateral perisilvian syndrome: Contribution of two new cases. An Esp Pediatr, 44: 617-619.