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 Table of Contents  
CASE REPORT
Year : 2016  |  Volume : 23  |  Issue : 1  |  Page : 38-40

Schizencephaly: A case report and review of literature


Department of Radiology, University of Port Harcourt Teaching Hospital and University of Port Harcourt, Port Harcourt, Rivers State, Nigeria

Date of Web Publication13-Apr-2016

Correspondence Address:
Enighe W Ugboma
Department of Radiology, University of Port Harcourt Teaching Hospital and University of Port Harcourt, Port Harcourt, Rivers State
Nigeria
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/1117-1936.180181

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  Abstract 

Schizencephaly is a congenital condition characterized by cerebrospinal fluid-filled clefts that extend from the pia surface of the cerebral hemisphere to the ependymal surface of the ventricle. Magnetic resonance imaging is the modality of choice for its diagnosis. Very few cases have been described in the literature in this environment. Here, we present an 18-month-old male child who presented in a tertiary hospital in Port Harcourt, Rivers State in Nigeria with 6 months history of recurrent seizures. A cranial MRI done revealed that he had right unilateral opened lip schizencephaly.

Keywords: Brain malformation, magnetic resonance imaging, Nigeria, schizencephaly


How to cite this article:
Ugboma EW, Agi C E. Schizencephaly: A case report and review of literature. Niger Postgrad Med J 2016;23:38-40

How to cite this URL:
Ugboma EW, Agi C E. Schizencephaly: A case report and review of literature. Niger Postgrad Med J [serial online] 2016 [cited 2019 Jan 24];23:38-40. Available from: http://www.npmj.org/text.asp?2016/23/1/38/180181


  Introduction Top


Schizencephaly is a rare congenital disorder characterized by the developmental malformation of the cerebral cortex characterized by dysmorphic gray matter lined clefts in the cerebral cortex extending medially from the subarachnoid space into and continuous with the ipsilateral lateral ventricle. [1] It was first described in 1946 by Yakovlev and Wadsworth who coined the name 'Schizencephaly' as congenital clefts in the cerebral mantle, in their work on cadavers. [2] Schizencephaly is also associated in some cases with microcephaly, hydrocephalus, or other malformations such as septooptic dysplasia. [1],[3]

Incidence worldwide has been put at 1.5 in 1,000,000 live births [4] and 1:1650 among children suffering from epilepsy. [5] Majority of cases are thought to be sporadic. [4] No gender predilection has been noted. [2] However, a single study by Stopa et al. [6] found a male preponderance. A study done by Howe et al. [7] found the condition to be more frequent in infants born to younger mothers and is familiar. Incidence and prevalence in Nigeria and Africa are unknown.

Although no specific cause has been identified, various hypotheses have been postulated. It is thought to be due to abnormal neuronal migration or localized ischemia. [6],[8],[9] Other causes are the expression of genetic factors such as the mutant gene, EMX2. These expressed genetic factors are believed to damage the periventricular germinal matrix impairing cellular migration at 6-7 weeks of intrauterine growth. [8] Sarnat and Curatolo, [9] in his research, described it as an extreme form of true porencephaly due to the ischemic theory.

Magnetic resonance imaging (MRI) [10] is the imaging modality of choice for its diagnosis in infants and children due to its high tissue resolution and nonionizing attribute. A study done by Liang et al. [11] found a correlation between imaging findings and clinical features of schizencephaly thus helping to predict the developmental outcome. MRI allows for the visualization of the gray matter which lines the clefts which is pathognomonic for this condition differentiating it from porencephaly as well as in identifying other acquired and associated lesions. [9] Its high cost in this setting is its major drawback as well as it lengthy time of study and the need for sedation in some children.


  Case Report Top


A.M., an 18-month-old male patient was referred to the MRI suit for a cranial MRI with a history of recurrent generalized tonic-clonic seizures. He had been seen in a tertiary hospital in Port Harcourt in January 2015 with 6 months history of repeated convulsions and weakness in the left lower limb. He was symptomatically on the anticonvulsant sodium valproate.

Pregnancy had been complicated by malaria infection at 6 months gestation for which she was treated in hospital after laboratory confirmation, and delivery had been uneventful with delivery by spontaneous vaginal delivery at term. He cried soon after birth, and there were no postnatal complications. He is the second child in a monogamous family. The first child, a female is normal.

On physical examination, the child had normocephaly, no dysmorphism of face. Anterior fontanelle was normal. Sutures were widely normal. There was a global delay in the developmental milestones. Muscle tone of the left upper and lower limbs showed spasticity with 4/5 power grade but normal reflexes. Vitals signs were normal. Anthropometric measurements of weight and length were within normal limits. A working provisional diagnosis of cerebral palsy was made. Laboratory investigations: Packed cell volume, electrolytes were all normal. A cranial MRI was requested for and was done after much delay due to its high cost.

The cranial MRI [Figure 1],[Figure 2] and [Figure 3] showed a wide cerebrospinal fluid-filled gray matter lined cleft that extended from the subarachnoid space of the right parietal lobe communicating with the ipsilateral ventricle. There was absence of the septum pellucidum. The left cerebral and cerebellum, pons, and midbrain were all normal. A diagnosis of schizencephaly was made. The prognosis was explained to the parents. Shunt and postoperative physiotherapy were advised. The patient is on anticonvulsants awaiting the operation which is stalled due to poor finances.
Figure 1: Magnetic resonance imagining T2-weighted axial slice. Cerebrospinal fluid filled cleft lined by gray mater extending from the subarachnoid space through the right parietal lobe communicating with the right lateral ventricle. The septum pellucidum is absent

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Figure 2: Magnetic resonance imagining T2-weighted coronal slices. Cerebrospinal fluid filled cleft lined by gray mater extending from the subarachnoid space through the right parietal lobe region communicating with the right lateral ventricle

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Figure 3: Magnetic resonance imagining T1-weighted sagittal slice. Image showing cerebrospinal fluid filled cleft lined by gray mater extending from the subarachnoid space of the right parietal lobe region communicating with the lateral ventricle

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  Discussion Top


Schizencephaly is structurally seen as gray matter lined cerebrospinal filled clefts that extend from the pial membrane to the ependymal surface. [1] Two types are documented. [12] Type I or closed lip where the walls of the clefts are opposed to each other and Type II where the walls are separated from each other. Type II is more common than Type I with 60% of unilateral schizencephaly being of the opened type. [13] The clefts could be bilateral or unilateral, symmetrical or asymmetrical. It can occur anywhere in the brain. It is, however, more common in the parietal and frontal lobes, especially in the region of the Sylvian fissure. [1] Our patient was presented with Type II unilateral schizencephaly with the walls of the right parietal lobe cleft being wide and separated from each other.

Schizencephaly is often associated with other congenital abnormalities in 50-90% of cases [9] such as agenesis of the septum pellucidum and corpus callosum, polymicrogyria (an excessive number of small, partly fused gyri), pachygyria (unusually thick convolutions of the cerebral cortex), heterotopias (ectopic gray matter), septo optic dysplasia, and optic nerve hypoplasia. This patient presented with an absent septum pellucidum in addition to the open lipped parietal cleft.

Presentation and outcome are variable [8],[10] with the severity of symptoms depending on the amount of brain tissue affected. Common presenting features are seizures, hemiparesis mental retardation, delayed milestones, and motor defects. [8] Patients with Type I are often almost normal; they may have seizures and spasticity. [10] In Type II abnormalities, there is usually mental retardation, seizures, hypotonia, spasticity, inability to walk or speak, and blindness. [10] This patient presented with seizures weakness of the lower limbs and delayed developmental milestones. He could not walk at 18 months. These are in keeping with the features found in Type II schizencephaly.

Diagnosis is via neuroimaging. MRI [9],[14] is the modality of choice in neuroimaging in children and infants because of the use of magnetism and not ionizing radiation. Differentiation of the gray matter and white matter on T1-weighted images shows the abnormality in details. Its high cost is a major drawback in this environment where health insurance is almost nonexistent and may not cover its high cost when present. In utero, diagnosis can also be made by ultrasound scan and computed axial tomography. In our patient, diagnosis was made via MRI. There was a long duration of time before the diagnosis could be made because of the nonavailability of funds to pay for the study. The study was asked in January 2015, but it was not done till March 2015.

Management of both types of schizencephaly is conservative. [15],[16] It predominantly consists of rehabilitation of symptoms, i.e., motor defects and mental retardation and the control of seizures. Surgery is undertaken in some cases when there is hydrocephaly or intracranial hypertension which occurs mostly in the open lip form. [16] This is usually the insertion of ventricular shunts.

Other congenital defects that could appear like schizencephaly on neuroimaging include focal cortical dysplasia [17] (seen as cortical thickening, blurring of white matter-gray matter junction with abnormal architecture of subcortical layer) could appear similar to the closed lip form (Type I) where the cleft when present does not extend completely to the ventricular surface. However, with proper assessment of the ventricular outline, a slight cleft will be seen differentiating the two. Porencephaly [18] is another differential, only here there is a zone of encephalomalacia (extending from the cortical to the ventricular surface) which is lined by gliotic white matter unlike schizencephaly where the cleft is lined by gray matter. A band of heterotopic gray matter (normal neurons in abnormal locations) [19] may be mistaken for closed lip schizencephaly. Gray matter will be seen bulging into the ventricle in the latter.

Schizencephaly, though a rare congenital disorder, do occur in our environment. It should be considered in infants resenting with seizures. Neuroimaging (MRI) in children should be asked to adequately assess these patients in spite of its high cost for good patient management.

In addition, a comprehensive health insurance policy in this environment should be put in place and must cover fully essential diagnostic procedures to enhance patient management no matter the cost of such investigations.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Barkovich AJ, Norman D. MR imaging of schizencephaly. AJR Am J Roentgenol 1988;150:1391-6.  Back to cited text no. 1
    
2.
Yakovlev PI, Wadsworth RC. Schizencephalies; a study of the congenital clefts in the cerebral mantle; clefts with hydrocephalus and lips separated. J Neuropathol Exp Neurol 1946;5:169-206.  Back to cited text no. 2
    
3.
Denis D, Chateil JF, Brun M, Brissaud O, Lacombe D, Fontan D, et al. Schizencephaly: Clinical and imaging features in 30 infantile cases. Brain Dev 2000;22:475-83.  Back to cited text no. 3
    
4.
Brant WE, Helms CA. Fundamentals of Diagnostic Radiology. 3 rd ed.  Philadelphia: Lippincott Williams & Wilkins; 2007. p. 226-7.  Back to cited text no. 4
    
5.
Hunter AG. Brain. In: Stevenson RE, Hall JG, editors. Human Malformations and Related Anomalies. New York: Oxford University Press; 2006. p. 648-51.  Back to cited text no. 5
    
6.
Stopa J, Kucharska-Miasik I, Dziurzynska-Bialek E, Kostkiewicz A, Solinska A, Zajac-Mnich M, et al. Diagnostic imaging and problems of schizencephaly. Pol J Radiol 2014;79:444-9.  Back to cited text no. 6
    
7.
Howe DT, Rankin J, Draper ES. Schizencephaly prevalence, prenatal diagnosis and clues to etiology: A register-based study. Ultrasound Obstet Gynecol 2012;39:75-82.  Back to cited text no. 7
    
8.
Tietjen I, Erdogan F, Currier S, Apse K, Chang BS, Hill RS, et al. EMX2-independent familial schizencephaly: Clinical and genetic analyses. Am J Med Genet A 2005;135:166-70.  Back to cited text no. 8
    
9.
Sarnat HB, Curatolo P. Malformations of the Nervous System. 1 st ed. Edinburgh: Elsevier Publishers, Science Health Division; 2007. p. 235.  Back to cited text no. 9
    
10.
Hayashi N, Tsutsumi Y, Barkovich AJ. Morphological features and associated anomalies of schizencephaly in the clinical population: Detailed analysis of MR images. Neuroradiology 2002;44:418-27.  Back to cited text no. 10
    
11.
Liang JS, Lee WT, Peng SS, Yu TW, Shen YZ. Schizencephaly: Correlation between clinical and neuroimaging features. Acta Paediatr Taiwan 2002;43:208-13.  Back to cited text no. 11
    
12.
Barkovich JA, editor. Congenital malformations of the brain and skull. In: Pediatric Neuroimaging. 4 th ed. Philadelphia: Lippincott Williams and Wilkins; 2005. p. 291-386.  Back to cited text no. 12
    
13.
Donelly LF, editor. Schizencephaly. In: Diagnostic Imaging Pediatrics. 1 st ed., Vol. 7. Salt Lake City: Amirsys Publishing, Inc.; 2005. p. 34-7.  Back to cited text no. 13
    
14.
Cendes F. Neuroimaging in investigation of patients with epilepsy. Continuum (Minneap Minn) 2013;19:623-42.  Back to cited text no. 14
    
15.
Inoue R, Isono M, Kamida T, Izumi T, Kobayashi H. A case of schizencephaly with subdural fluid collection in a neonate. Childs Nerv Syst 2002;18:348-50.  Back to cited text no. 15
    
16.
Choi HY, Koh EJ. Long-term outcome of surgical treatment of patients with intractable epilepsy associated with schizencephaly. Acta Neurochir (Wien) 2013;155:1717-24.  Back to cited text no. 16
    
17.
Kabat J, Król P. Focal cortical dysplasia - Review. Pol J Radiol 2012;77:35-43.  Back to cited text no. 17
    
18.
Osborn AG, Preece MT. Intracranial cysts: Radiologic-pathologic correlation and imaging approach. Radiology 2006;239:650-64.  Back to cited text no. 18
    
19.
Barkovich AJ, Kjos BO. Gray matter heterotopias: MR characteristics and correlation with developmental and neurologic manifestations. Radiology 1992;182:493-9.  Back to cited text no. 19
    


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  [Figure 1], [Figure 2], [Figure 3]



 

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