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Schizencephaly is a central nervous system (CNS) developmental disorder characterized by abnormal cleft extending from the lateral ventricles to the cerebral cortex. Clinically, it occurs as trans-mantle, closed lip and open lip types which may be unilateral or bilateral. The exact cause of schizencephaly is not known but genetic disorders, exposur...
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... tests were normal, but CT-Scan showed bilateral cysts separating by a cleft, resembling bilateral open lip schizencephaly ( Fig. 1). As there was considerable ventriculomegaly, our team advised VP-Shunt for the purpose of decreasing ICP. We treated the patient by placement of VP-Shunt with no any intra-operative and post-operative complications (Figs. 2-6). The operation ended ...
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Schizencephaly is a rare congenital malformation of the brain in which there are abnormal clefts lined by cortical gray matter that allow communication between the subpial space and the lateral ventricle in the cerebral hemispheres, as a result of a neuronal migration disorder. Due to its rarity, the study of this condition has been limited, and kn...
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... There are two reported subtypes of schizencephaly, open-lip and closed-lip, with the major difference being that in closed-lip schizencephaly, the opposing walls of the defect are in contact with one another, whereas, in open-lip schizencephaly, the walls do not communicate and are separated by the resulting cleft of cerebrospinal fluid [5]. Open-lip schizencephaly is typically associated with a larger degree of functional impairment [6]. Schizencephaly can be further categorized by location within the cerebral cortex, by laterality (unilateral versus bilateral), or by size (small versus medium versus large) [7]. ...
Schizencephaly is a very rare anatomical malformation of the cerebrum characterized by a cleft extending from the cortex to the ventricles. Usually, this disease is diagnosed at a very young age or in early adulthood. Symptoms may vary depending on the site and the size of the malformation. Here, we are describing the unique case of a 21-year-old female, with a past medical history of migraine-type headaches, who presented after the first-onset seizure and was found to have open-lip schizencephaly. She was started on levetiracetam with no complications. In this report, we are trying to describe the proposed etiology and discuss the typical clinical presentation of schizencephaly and compare it to our adult patient who survived childhood without significant cognitive or neurological impairment.
... It ranged from asymptomatic cases to those with severe neurological disabilities. Common features include seizures, motor deficit, delayed milestones, cognitive impairment, microcephaly and others based on associated anomalies [13] [14]. Patients with closed lip type are more likely to have milder forms of neurologic deficit when compared to those with open lip type. ...
Schizencephaly is a rare congenital malformation of the brain that could
present with repeated seizures. We report a case of a 17-year-old boy who presented
with status epilepticus. Further radiological evaluation revealed unilateral
open lip schizencephaly. Seizure was well controlled with anti-epileptic
drug and there was no need for surgical intervention. This case highlights the
need for prompt radiological evaluation of patients with seizures, especially in
resource-limited settings where the high cost and non-availability of such facilities
might be a major impediment.
Keywords
Open Lip Schizencephaly, Status Epilepticus, Seizure
Schizencephaly is an uncommon anomaly in neuronal migration characterized by complete clefts that extend from the pia mater to the ependymal surface of the ventricular system. These clefts are encompassed by displaced gray matter and filled with cerebrospinal fluid. Typically, they are found most often in the frontal lobe or the area around the lateral sulcus and can occur on one or both sides. The size, location, and type of these clefts carry significant clinical and prognostic implications. Moreover, they are frequently associated with other central nervous system malformations, including the absence of the septum pellucidum, septo-optic dysplasia, optic nerve hypoplasia, pachygyria, polymicrogyria, cortical dysplasia, heterotopia, and dysplasia of the corpus callosum. Occurrence of schizencephaly is almost always sporadic but its etiopathogenesis is yet to be fully understood. Most likely environmental factors, including exposure to teratogens, viral infections, and maternal factors, operate jointly with genetic defects. To date COL4A1, EMX2, SHH, and SIX3 are the genes identified as possible pathogenetic target. It is interesting to notice that schizencephaly is commonly seen in abandoned or adopted children, as proof of causative effect of intrautero insults. Clinical presentations widely vary and symptoms include a spectrum of cognitive impairment, limb paresis/tetraparesis, and epileptic seizures either with early or late onset; anyway, none of these symptoms is ever-present and patients with schizencephaly can also have normal neurocognitive and motor development. Diagnostic gold standard for schizencephaly is magnetic resonance imaging, which allows to identify and characterize typical clefts. Treatment of schizencephaly is symptomatic and supportive and depends on the severity of morbidity resulting from the malformation. Therapy includes antiepileptic drugs, psychomotor rehabilitation, and in selected cases surgical approach.
