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.