The clinical presentation of schizencephaly is a wide range. The patients might have normal cognition with seizure onset in adulthood. The patients can also have hemiparesis with mild developmental delay or severe cognitive impairment with quadriparesis.[6]

Clinical presentation depends on the type.

• Type I (closed-lip) has a milder course which can be asymptomatic or diagnosed only in adult patients and presents with epileptic seizures and mild motor deficits.[15]
• Type II (open lip), has a severe course, manifested by epilepsy (often refractory), intellectual disability, varying degrees of paralysis, hemiparesis in unilateral schizencephaly and quadriparesis in bilateral schizencephaly.[15]

The clinical features of patients with schizencephaly can be classified according to whether the finding is unilateral or bilateral.[2][16] Unilateral schizencephaly may present with contralateral hemiparesis and asymmetrical muscle tone. Bilateral schizencephaly may present with seizures, developmental delay, quadriparesis, and severe mental deficits.

The diagnostic method of choice of imaging in schizencephaly is magnetic resonance imaging (MRI). Imaging shows a fluid-filled linear cleft lined with heterotrophic gray matter that extends from the pial membrane of the cortex to the ependymal surface in the ventricle.[15][17] Type 1 can be seen as a nipple-like out-pouching at the ventricular surface.[4] Computed tomography (CT) may also be useful, but it provides poorer images of the gray matter, which are the key factor in differentiating between schizencephaly and other fluid-associated CNS abnormalities such as arachnoid cyst, porencephaly, and hydranencephaly. The diagnosis may be suspected prenatally if clefts are viewed within the cerebral hemispheres by two-dimensional ultrasonography (2DUS).[18]

Epileptogenic zone on EEG may demonstrate the area of dysplastic cortex, which may be situated not only within the cleft but also in its vicinity or in the contralateral hemisphere.[15]

Associated anomalies include septo-optic dysplasia (SOD), optic nerve hypoplasia, absence of septum pellucidum, pachygyria, polymicrogyria, a heterotopia, and arachnoid cysts.[19]

The treatment for schizencephaly depends on multiple factors, including the signs and symptoms and severity of the condition.

Management is mainly supportive, which includes rehabilitation for motor deficits, intellectual disability, and seizure management. Surgery can be a choice in cases with hydrocephalus or raised intracranial pressure.[15]

• Focal cortical dysplasia may have a cleft on the cortex, not extending up to the ventricles.
• Grey matter heterotropia will be seen as a linear cleft, but periventricular grey matter generally bulges into the ventricle.
• Porencephaly extends from cortex to ventricles but is lined by gliotic white matter; some authors would refer to schizencephaly as 'true porencephaly.'[7][20]

The prognosis depends on the size and type of the clefts.

• Type I (closed-lip) has a milder course. It can be asymptomatic or diagnosed only in adult patients and presents with epileptic seizures and mild motor deficits.[15]
• Type II (open lip) has a more severe presentation, manifested by epilepsy (often refractory), intellectual disability, varying degrees of paralysis, hemiparesis in unilateral schizencephaly, and quadriparesis in bilateral schizencephaly.[15]

Schizencephaly is a CNS malformation that most often presents as epilepsy. Though a majority of patients have well-controlled seizures, some patients may develop refractory epilepsy with uncontrolled breakthrough seizures and associated risks, including sudden unexpected death in epilepsy (SUDEP). In individuals with schizencephaly with large fluid-filled spaces, there may be the development of elevated intracranial pressure with associated complications such as herniation, and these patients may require surgical intervention with or without ventricle-peritoneal shunt placement. These surgical methods can be associated with complications such as bleeding, subdural hygroma, empyema, hydrocephalus, and infections like meningitis. If shunting performed, additional possible complications include endocarditis and shunt related renal damage.[15]

Schizencephaly is a rare congenital neuronal migration disorder.

• Type I (closed-lip) can be asymptomatic or diagnosed in adult patients.
• Type II (open lip) is a severe malformation that can manifest by refractory epilepsy, intellectual disability, varying degrees of paralysis from hemiparesis to quadriparesis.
• Possible etiological factors include teratogenic exposures, viral exposures, genetic mutations, and intrauterine fetal stroke.

Risk factors of schizencephaly include young maternal age and the illicit use of alcohol and narcotic substances.

The diagnostic method of choice in imaging of schizencephaly is magnetic resonance imaging (MRI).

The therapeutic management of both types of schizencephaly is conservative.

Surgical treatment is undertaken in some cases with concomitant hydrocephaly or intracranial hypertension.

The care of patients with schizencephaly should be with an interprofessional team approach. When a primary clinician evaluates a patient with development delay, referral to a pediatric neurologist is recommended. The interprofessional team may include a pediatrician, pediatric neurologist, pediatric neurosurgeon, nurse, and pharmacist. Type 1 (closed-lip) schizencephaly symptoms may not manifest until adulthood.[15] Therefore, it is recommended that an adult neurologist should gain familiarity with the pathophysiology, presentation, diagnosis, and management of schizencephaly.