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Radiol Case Rep
Radiol Case Rep
Radiology Case Reports
1930-0433
Elsevier

S1930-0433(24)00780-5
10.1016/j.radcr.2024.07.192
Case Report
Open lip schizencephaly: An unusual cause of hemiparesis: A case report
Mequanint Melese Birara a
Mengesha Chalew Abebe b
Alemu Hirut Tesfahun c
Molla Yohannis Derbew yderbew73@gmail.com
a⁎
a Department of Surgery, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia
b Department of Radiology, College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia
c College of Medicine and Health Sciences, University of Gondar, Gondar, Ethiopia
⁎ Corresponding author. yderbew73@gmail.com
29 8 2024
11 2024
29 8 2024
19 11 53545358
20 4 2024
30 7 2024
31 7 2024
© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.
2024

https://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Schizencephaly is a highly uncommon clinical condition characterized by a diverse range of symptoms stemming from its numerous anatomical manifestations. The disorder is characterized by abnormalities in brain structure resulting from disruptions in neuronal migration. This article presents a case of schizencephaly in an Ethiopian child. The child, displaying delayed walking and speech difficulty since birth, was brought to the pediatric outpatient department for examination. The physical assessment revealed left-sided hemiparesis and an inability to sit without assistance. Subsequent magnetic resonance imaging findings confirmed the presence of open-lip schizencephaly. Therefore, neurorehabilitation, specifically highlighting the crucial importance of early intervention in enhancing cognitive and motor functions was initiated. It is imperative to acknowledge that, while a permanent cure for schizencephaly may not currently exist, neuro-rehabilitation plays a pivotal role in enhancing the overall quality of life for individuals affected by this condition.

Keywords

Open lip
Schizencephaly
Neuron
Rehabilitation
Weakness
Abbreviations

CT Computed tomography

CSF Cerebrospinal fluid

MRI Magnetic resonance imaging
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pmcIntroduction

Schizencephaly is a highly atypical clinical condition resulting from abnormal neuronal migration, characterized by a malformation of the cerebrum. This malformation gives rise to a brain defect that manifests as a fissure extending from the pial surface of the cortex to the ependymal surface of the ventricles [1]. Schizencephaly is typically diagnosed during the early stages of childhood or infancy when investigating the causes of seizures or unexplained delays in neurodevelopment [2]. In some cases, schizencephaly can even be detected before birth through prenatal ultrasound or, less commonly, in utero magnetic resonance imaging [3].

Schizencephaly manifests in 2 distinct subtypes: open-lip and closed-lip. The key differentiation between these subtypes lies in the structural configuration of the brain walls. In open-lip schizencephaly, the walls are separated by a cleft containing cerebrospinal fluid, remaining unconnected. Conversely, closed-lip schizencephaly is characterized by the opposing walls of the defect being in communication with each other [4]. Significant functional disability is commonly associated with open-lip schizencephaly [5]. It is important to note that both unilateral and bilateral forms of schizencephaly can also occur, with the size of the defect varying from small to large [6].

Due to the multifaceted nature of schizencephaly, the clinical manifestation of the disorder can vary significantly. The extent and location of the structural abnormalities play a crucial role in determining the specific symptoms exhibited by patients, which may include neurodevelopmental delay, seizure disorder, hemiparesis, or quadriparesis [7]. Bilateral schizencephaly is associated with more severe motor and neurological impairments compared to unilateral abnormalities. Additionally, the prognosis tends to be poorer for larger lesions or those affecting the frontal lobe [8]. In this report, we present a case of unilateral open lip schizencephaly in a 2-year-old toddler.

Clinical presentation

A 2-year-old female toddler presented at the pediatric clinic with weakness on the left side of her body and a notable inability to speak since infancy. There was no history of seizures, trauma, abnormal urine odor, or unusual urine color. While the child had achieved age-appropriate milestones in other areas of development, a slight delay in gross motor skills was identified in her developmental history. The examination of the central nervous system revealed normal functioning of the cranial nerves, with the right upper and lower limbs displaying spasticity and brisk deep tendon reflexes. A power of 3/5 was observed on the right upper and lower limbs. The results of the remaining systemic evaluation were within normal limits.

The mother delivered her child at the age of 20 without having received any prenatal care or obstetric ultrasound imaging. There was no previous history of this disease in the family, and the pregnancy progressed without complications. The infant, born vaginally at full term, is the first child of a nonconsanguineous couple. The mother has never sought medical attention before and has no history of diabetes, hypertension, or any other chronic illness. Additionally, there is no record of any medication allergies or past drug use.

A comprehensive array of standard blood tests was conducted as part of the diagnostic evaluation for infantile hemiparesis. The findings of these tests, encompassing electrolyte levels, liver function enzymes, and complete blood count (CBC), all fell within the expected normal parameters. Additionally, a thorough assessment of hearing and ophthalmologic function was carried out, yielding unremarkable results.

To further investigate the condition, a brain magnetic resonance imaging (MRI) was performed. The results of this imaging revealed several significant findings. Specifically, a right frontoparietal brain cleft lined by gray matter was observed, which connected the subarachnoid space to the ventricular system. Additionally, polymicrogyria was present, along with the absence of the septum pellucidum and corpus callosum. These findings were consistent with a diagnosis of unilateral right open lip schizencephaly (Figs. 1 and 2).Fig. 1 MRI showing CSF attenuating lesion having communication with subarachnoid space and lateral ventricles (red arrow) and abscent corpus callosum (black arrow).

Fig 1:

Fig. 2 MRI showing right frontoparietal brain cleft lined by gray matter and CSF attenuating lesion having communication with subarachnoid space and lateral ventricles (white arrow).

Fig 2:

Therefore, the patient was diagnosed with open-lip schizencephaly. Subsequently, the neurosurgeon has determined that there is no immediate need for active intervention. However, physiotherapy has been recommended as a crucial component of the patient's neurorehabilitation plan. Furthermore, the youngster has been scheduled to attend an appointment at the pediatric neurology clinic. On subsequent follow-up at the pediatric neurologic clinic, the spasticity showed some improvement in both upper and lower extremities. Unfortunately, there was no improvement in terms of power and reflexes.

Discussion

The defining characteristic of schizencephaly is the presence of anomalous fissures or clefts within the brain hemispheres, leading to a variety of neurological and developmental challenges. While the exact etiology of schizencephaly remains unclear, it is hypothesized that an ischemic event during the seventh or eighth week of gestation may play a role in its development. During this critical period, neurons are actively migrating to form the cerebral cortex. Disruption of this process due to inadequate oxygen and blood supply in the region of neuronal migration, possibly stemming from damage to the local blood vessels, could result in the formation of schizencephaly [4,9]. This condition may also arise due to various additional factors such as infections, metabolic issues, and genetic defects. A study has indicated that heterozygous EMX2 gene mutations are associated with schizencephaly. However, further research is necessary to fully elucidate the numerous etiological mechanisms involved [10].

Recent literature categorizes schizencephaly into 3 distinct types, as the presence of a full-thickness cleft containing cerebrospinal fluid (CSF) is not a prerequisite for its classification. “Type 1 (trans-mantle): No CSF-containing cleft on magnetic resonance imaging (MRI), but contains a trans-mantle column of abnormal gray matter. Type 2 (closed-lip): Presence of cleft containing CSF, but the lining lips of abnormal gray matter are abutting and opposed to each other. Type 3 (open-lip): Presence of cleft containing CSF. The lining lips of abnormal gray matter are not abutting each other” [11]. According to this classification, our patient has type 3 (open-lip) schizencephaly.

The size and location of the brain cleft play a significant role in determining the clinical manifestations of schizencephaly. In cases of unilateral schizencephaly, typical symptoms include hemiparesis, cognitive deficits, and treatment-resistant epilepsy. Quadriparesis is often observed in instances of bilateral schizencephaly [12,13]. Type 1 (trans-mantle) schizophrenia is commonly incidentally detected and tends to have a less severe course of the illness [13]. This particular patient presented with hemiparesis but no history of seizure.

The presence of gray matter lining the brain cleft is the key imaging characteristic of schizencephaly. Magnetic resonance imaging (MRI) is the preferred diagnostic method due to its ability to differentiate gray matter and accurately distinguish schizencephaly from other fluid-associated central nervous system abnormalities, such as porencephalic cysts, where gray matter does not line the brain cleft [14]. Specifically, the open-lip form of schizencephaly can be reliably diagnosed using computed tomography (CT) or MRI, with MRI being considered the superior imaging technique due to its ability to detect gray matter. In situations where MRI is not available, CT remains the primary diagnostic tool for evaluating schizencephaly [3,14]. This patient was diagnosed using MRI. Ultrasonography can be utilized for the antenatal diagnosis of open-lip schizencephaly starting from the 24th week of gestation. In cases where termination of the pregnancy is not a consideration, this allows for parental counseling and preparation for the clinical implications of the anomaly [15]. However, in instances of milder forms or atypical presentations, the diagnosis may prove challenging, necessitating a collaborative, multidisciplinary approach involving geneticists, radiologists, and neurologists.

The primary objectives of schizencephaly treatment options are to optimize the child's developmental potential and effectively manage the symptoms associated with the condition. The focal points of treatment for schizencephaly are the management of seizures and neurorehabilitation. Early intervention programs, such as speech and language therapy, physical and occupational therapy, and educational support, play a crucial role in enhancing functional outcomes. In cases of hydrocephalus, which affects approximately 30% of patients with type 2 schizencephaly, a ventriculoperitoneal shunt may be utilized for treatment. The prognosis for the open-lip variant is typically less favorable due to the potential for respiratory complications and persistent infections, leading to a higher risk of early mortality [16]. This patient was managed with physiotherapy and so far, has not developed any infection, seizure or respiratory problems.

Conclusions

When addressing individuals diagnosed with schizencephaly, it is imperative to adopt a multidisciplinary approach. It is important to acknowledge that there is presently no established treatment for this condition. Consequently, the primary emphasis is on neurorehabilitation as the cornerstone of therapy. The initiation of neurorehabilitation should be prompt, as studies have shown that it can enhance motor and cognitive functions in patients. In certain instances, it may even facilitate a complete and typical developmental progression.

Patient consent

Written informed consent was taken from the mother for publication of this case report and any accompanying images. A copy of the written consent is available for review for the editor-in-chief of this journal.

Ethical clearance

The case report has been submitted for Ethical Board Review and approved as ethically sound report.

Availability of data and materials

The authors of this manuscript are willing to provide any additional information regarding the case report.

Author contribution

All authors contributed to the conception, writing and editing of the case report. All authors are agreed to be accountable for all aspects of the manuscript.

Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Acknowledgments: Not applicable.
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