Discussion
Schizencephaly is a rare congenital neuronal migration disorder characterized by a cleft lined by heterotopic gray matter, which connects the surface of the cerebral hemisphere to the lateral ventricle.4 The term was coined by Yakovlev and Wadsworth in 1946, based on their work on cadavers, that classified schizencephaly into two types.5 These are:
Type I (closed-lip): Cleft is fused, preventing CSF passage.
Type II (open-lip): A cleft is present, which permits CSF to pass between the ventricular cavity and subarachnoid space.
Developmental delays and a variety of neurological impairments can be linked to both kinds of schizencephaly. The etiopathogenesis of schizencephaly remains unclear, but it may result from external factors like middle cerebral artery stroke or genetic factors like EMX2 gene mutation. Maternal age, substance abuse, and lack of prenatal care are also potential risk factors. 6 A related condition is absent cavum septum pellucidum (CSP), which is characterized by the absence or underdevelopment of the cavity between the two lateral ventricles in the brain. In instances of closed lip schizencephaly, the absence of CSP is a frequent finding, and it is frequently employed as a diagnostic standard for the syndrome. With the help of several imaging methods, such as magnetic resonance imaging (MRI), the absence of the CSP may be shown.7 The cleft in the cerebral hemisphere can be seen through imaging tests like an MRI, which are commonly used to diagnose schizencephaly. Managing the neurological abnormalities and developmental delays associated with the illness is often treated with physical therapy, occupational therapy, and speech therapy.8
Also, recent research have looked at the use of fiber tractography and diffusion tensor imaging (DTI) in the diagnosis and treatment of brain abnormalities such schizencephaly.9 Although fiber tractography may be used to see the route of important white matter pathways in the brain, DTI is a type of MRI that can give information on the microstructure of brain tissue and the integrity of white matter tracts. These methods could offer insightful details regarding the underlying neurological abnormalities and potential remedies for schizencephalic patients.
DTI and fiber tractography may provide valuable information for the diagnosis and management of these conditions, while genetic testing and molecular profiling may help to identify underlying genetic causes and potential treatment targets.
Some genetic mutations have been reported as possible etiological factors for schizencephaly. The main genes identified in this regard are COL4A1 mutations, EMX2-germline mutations, SHH gene, SIX3 gene.4
As the precise source of the disorder is unclear, controlling its symptoms and deficiencies serves as the mainstay of treatment.