What is Schizencephaly: Presentation, Epidemiology, Prognosis, Survival Rate, Management, Causes
Everyday thousands of people including newborns get diagnosed with different disorders. However, Schizencephaly is one rare disorder that needs special attention. Schizencephaly is a medical condition that involves fissures or splits in the brain tissues and hence, is also known as split brain. Schizencephaly is an extremely strange state of body and it’s caused by poor anatomical development of the embryonic brain all through the primary 7 months of pregnancy. Apart from this, the main reason of such sort of condition is still unknown as well as treatment for Schizencephaly becomes quite tough.
What is Schizencephaly?
Schizencephaly is an unusual birth disorder that is characterized by irregular clefts or slits in cerebral hemisphere of the brain. Children who have clefts or slits in both the hemispheres known as bilateral clefts usually have developmental setbacks, delays in language skills and speech and issues with brain-spinal cord communication. People with slits in just one hemisphere known as unilateral slits are frequently paralyzed on either part of the body, yet might have regular to near average intelligence. People with schizencephaly might have abnormally small head, complete or partial paralysis, impairment and cognitive delay, poor muscles tone and much more. Many people with Schizencephaly experience seizures and some might also have excessive fluid accumulation in the brain known as hydrocephalus.
Presentation of Schizencephaly
Patients who are suffering from Schizencephaly perhaps present quite different symptoms relying on the size and degree of the slit or cleft. Delay in development are very usual in Schizencephaly patients as well as the delay level can go up from serene to severe. In case, clefts are open-lip or bilateral, the delay generally is more severe. Increased pressure or hydrocephalus in the brain because of the fluid accumulation might be present. The presence of small head or microcephaly is perhaps considered as a clinical presentation. The Schizencephaly patients might have limbs paralysis that may be on either or both the sides.
Epidemiology of Schizencephaly
In a study, around 71 patients with schizencephaly diagnosed through MRI were considered by 2 radiologists. In this, the position of schizencephaly, the linked white material anomalies as well as other linked anomalies of main nervous system were assessed. The schizencephaly was found in 30 (42%) patient as unilateral and in 41 (58%) patients as bilateral. Lobes associated in schizencephaly were 69% frontal, 63% parietal, 38% temporal and 7% occipital. 80% involved slits in the cortex in Sylvian fissures. The cingulated gyrus, striate cortex, gyrus rectus and hippocampus were frequently spared. 48% of the almost diminished amount of white material was noted, 27% of the perivascular space was dilated and huge cortical nerves were noticed in 51%.
Schizencephaly was also often found as a comorbid condition in patients with polymicrogyria.
Schizencephaly occurs in particular regions of the brain; the mass being centered in Sylvian fissures and marginal in portions of the occipital lobes or the cerebral hemisphere. The rate of occurrence of the disorder is estimated to be 1 in 64,935 births in USA and 1 in 69,444 in United Kingdom. The worldwide prevalence rate is 1.5 in 100,000 live births with no dominance noted in any gender.
Prognosis and Survival Rate of Schizencephaly
Prognosis for people with schizencephaly differs depending up on the degree of the neurological deficit and the size of slits or clefts. It’s a rare disorder and less is known about the long term prognosis for such disorder. There are many complications involved with the schizencephaly from disease database that includes:
- Skull deformity
- Learning disability
- Optic nerves hypoplasia.
The prognosis for people who have Schizencephaly generally refers to the result of Schizencephaly. This prognosis might include chances of complication of Schizencephaly, duration of this disorder, possible outcomes, recovery time of Schizencephaly, recovery prospects, death rates, and survival rates as well as other possibilities and results in overall prognosis for Schizencephaly. Logically, these forecast problems are because of its unpredictable nature.
Causes of Schizencephaly
It is quite difficult to tell the exact reason for schizencephaly. In some cases, defect is associated to mutation of the SIX3, SHH genes. Schizencephaly cases develop in siblings, pointing towards a probable hereditary and genetic cause. There happens to be a vascular cause as well not associated to the CNS or central nervous system. Having a younger or teen age mother is also linked with schizencephaly. There are different probable causes to this disorder, yet one detail remains the same, a stroke that is involved during pregnancy time could be a highly probable cause of this condition.
The stimulant which causes stroke i.e., Cytomegalovirus (CMV) infections, environmental and genetic issues and folic acid deficiencies are some reason that causes schizencephaly as well. Overtime different opinions have been given for this disorder. There are many cases that involve gene mutation detected via wide-ranging of genetic testing. You will also find many cases of chromosome 13 having huge arm and trisomy 9. Every kid of an entity with COL4A1 associated disorder has around 50% of chances to inherit the mutation straight from their parents. It has been confirmed as well that mutation in COL4A1 gene happens in few patients with Schizencephaly and Porencephaly.
Concerned families should be advised for expanded genetic testing plus probable mutations. Other fetal insults to any amount can cause toxins exposure, pregnancy sickness, environmental issues as well as various other multiple complications. Additional researches are required to rule-out other causes. Most of the doctors realize a stroke occurs before twenty weeks gestation as well as accounts neural tube defect on folic acids deficiency. Yet, the truth remains the same as people have a lengthy road to cure Schizencephaly and fetal strokes.
Risk Factors of Schizencephaly
There are many risk involved with Schizencephaly. It’s an extremely unique disorder and as per studies, the prevalence of this disease is around 1.48 in every 100,000 births. Since the real cause behind Schizencephaly is unknown yet, it’s tough to pinpoint the danger factors involved with it. Some possibilities include:
- Having sibling, most probably an identical twin with Schizencephaly
- When a mother is young
- Having non-CNS vascular issues prior to birth
- Having specific genetic mutations.
Diagnosis of Schizencephaly
MRI or Magnetic resonance imaging is generally used for the diagnosis as it has a better definition when compared to CT or computed tomography scan. MRI can take pictures from different angles and diagnosis of stroke or Schizencephaly is validated, when telltale clefts or slits are found in both or one cerebral hemispheres. Most of the cases of this disorder get undetected as it’s more frequently overseen by various medical conditions like Epilepsy and Cerebral Palsy. The signs of Schizencephaly are different depending on the position and quantity of under developed parts of the brain. At times, obstetricians can easily detect Schizencephaly via ultrasounds. The exact method to diagnose this disorder is nothing but MRI as discussed above. Most of the people with this disorder have unstoppable seizure as well as severe delays in development, scoliosis, paralysis, hip dislocation and no vision and need surgeries.
Management of Schizencephaly
Treatment for Schizencephaly is not available as such. Though, there are few treatments, which can enhance the life quality.
- Shunts: When infants have CFS or cerebrospinal fluid in the brain then doctors can slot in shunts. It redirects the fluids to various body parts where this can be reabsorbed harmlessly.
- Medication: Medication is more often prescribed by the doctors to prevent seizures due to schizencephaly.
- Therapies: 3 various sorts of therapists, which can assist a kid with Schizencephaly live a better life are occupational, physical and speech therapists. Physical therapists will help with large or gross motor movement such as walking, strengthening legs and arms and standing. Occupational therapists usually deals with fine gross motor movements such as getting dressed and feeding oneself. Speech therapists help kids who have problem in speaking and learning; if paralysis is present then they help in swallowing techniques.
- Surgical eradication of offending brain tissues, which surround the cleft.
There are many indications as this condition may be evident in various ways depending on the split breadth. This could incur lack in developmental microencephaly and hydeocephalus that occurs during accumulation of fluid in the brain, enhanced muscle tone, limbs paralysis, hypotonia as well as these are mentioned as Spasticity and cerebral abnormality seizures. Examining it through genetics isn’t made possible yet; though, MRI or CT are the ways one can distinguish between schizencephaly and other related disorders. There isn’t any particular cure to Schizencephaly. Though, G therapy can be quite useful. After these therapies and medications people can see some changes and improvements in the muscle tone, speech and reaching of developmental milestones.