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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 15  |  Issue : 3  |  Page : 503-505

Open-lip schizencephaly with neuroregression


Department of Paediatrics, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences (Deemed to be University) ,Wardha, Maharashtra, India

Date of Submission11-Jun-2020
Date of Decision25-Jun-2020
Date of Acceptance15-Jul-2020
Date of Web Publication1-Feb-2021

Correspondence Address:
Dr. Sarika Gaikwad
Department of Paediatrics, Jawaharlal Nehru Medical College, DMIMS, Sawangi, Wardha, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jdmimsu.jdmimsu_223_20

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  Abstract 


Schizencephaly is a very rare congenital brain anomaly, and it is a part of disorder of neuronal migration. It has a wide spectrum of clinical presentations depending upon the size and location of the lesion, which include global developmental delay, spastic quadriparesis, and refractory seizures. Here, we report a 15-year-old adolescent female with complaints of multiple episodes of convulsions for the past 11 years (from the age of 4 years) followed by neuroregression but diagnosed late with neuroimaging.

Keywords: Convulsion, global developmental delay, neuroimaging, schizencephaly


How to cite this article:
Gaikwad S, Uke P, Pujari D, Swarnkar K. Open-lip schizencephaly with neuroregression. J Datta Meghe Inst Med Sci Univ 2020;15:503-5

How to cite this URL:
Gaikwad S, Uke P, Pujari D, Swarnkar K. Open-lip schizencephaly with neuroregression. J Datta Meghe Inst Med Sci Univ [serial online] 2020 [cited 2021 Feb 24];15:503-5. Available from: http://www.journaldmims.com/text.asp?2020/15/3/503/308561




  Introduction Top


Schizencephaly (SCH) or cleft brain is now considered a subtype of polymicrogyria. Morphological abnormality resulting due to the presence of unilateral or bilateral clefts within the cerebral hemispheres. The cleft can be unilateral or bilateral, as well as open lip (fused) or closed lip (unfused). Large unilateral cleft mimics with porencephalic cyst. In open-lip SCH, the walls of cleft do not oppose, whereas in closed-lip SCH, the cleft is opposed and may be fused together. Patients of bilateral cleft present as severely intellectually disability, intractable seizures, and microcephaly with spastic quadriparesis. Clinically, children with SCH present with hemiparesis, motor delays, and seizures. Cognitive dysfunction occurs frequently. We can suspect unilateral SCH if a child presented with congenital hemiparesis. In cases of familial SCH, some gene mutations exist.

A 15-year-old female child was brought to our institute with complaints of multiple episodes of convulsions for the past 11 years. As narrated by the father, the patient was apparently alright up to 6 years of age when she was first admitted to the hospital with fever which was high grade and one episode of generalized tonic convulsion (GTCS) with up-rolling of eyes and clenching of fists, lasting for 10–15 min after which the seizure was self-aborted followed by a period of postictal drowsiness lasting for 20 min approximately. This episode was followed by multiple such episodes of GTCS seizures almost every other day that were not associated with fever. The birth history was normal, and there was no history of similar complaints in the family. The patient was taken to several rural private practitioners for these complaints, however, with no relief. The parents also gave a history of neuroregression noticed after a few months of onset of seizures – the patient was initially able to independently perform day-to-day activities such as dressing herself, reciting poems, and playing with children of her age and had even begun to attend school with ease. However, after repeated seizures, the parents noticed that the child had drastic behavioral and developmental changes as she was unable to make simple conversations, needed to be dressed, and showed lack of interest in surroundings. She had soon dropped out of school due to her illness and needed special care due to her seizures.

The patient was referred to our hospital through a camp that was held at the patient's village after almost 11 years of onset of her illness. On admission, patient's general condition was fair. Vitals were stable. Central nervous system examination revealed poor higher mental functions, as the patient, although conscious, was oriented to time or place and did not have good recent or past memory and low intellectual performance. Motor examination revealed normal tone and power with normal? DTRs. Planters were found to be bilateral extensors (Babinski sign: positive). Sensory system was normal with no signs of cerebral involvement. Rest of the systemic examination revealed no positive findings. IQ testing revealed that the patient had severe mental retardation with an IQ score of 22.

Investigations

Routine blood investigations, complete blood count, and thyroid profile were normal. Electroencephalogram was done suggestive of intermittent sharp and high amplitude waves which were of generalized manner, reflecting ongoing ictogenic discharges involving both hemispheres.

The patient's magnetic resonance imaging (MRI) of the brain done was suggestive of evidence of large cerebrospinal fluid (CSF) signal intensity areas noted in the bilateral high and posterior parietal regions communicating with extra-axial CSF spaces in parietal convexities with wide communication in the body and posterior horns of both lateral ventricles lined by cortical gray matter. Third and fourth ventricles were mildly dilated, and there was thinning of body and genu of corpus callosum with no visualization of the body of the posterior part and the splenium. F/S/O wide open lip SCH [Figure 1],[Figure 2],[Figure 3].
Figure 1: Magnetic resonance imaging of the T1 sagittal section showing large cerebrospinal fluid signal intensity areas noted in the bilateral high and posterior parietal regions

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Figure 2: Magnetic resonance imaging of the axial T2 section showing communication in the body and posterior horns of both lateral ventricles lined by cortical gray matter. Third and fourth ventricles were mildly dilated_LI

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Figure 3: Magnetic resonance imaging of the axial T2 section showing communication in the body and posterior horns of both lateral ventricles lined by cortical gray matter. Third and fourth ventricles were mildly dilated_LI

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  Discussion Top


The word SCH is taken from Greek “skhizein” meaning “to split” and “enkephalos” meaning “brain.” It is a part of disorder of neuronal migration. It is divided into two types, i.e., Type I (unfused) and Type II (fused). Fused occurs more commonly than unfused.[1] The clefts can occur in all areas of the brain but more common in the frontal and parietal lobes.[2] The prevalence rate of SCH is 1.54 per 100,000 populations.[3] Etiologies include maternal factors such as TORCH infections, trauma, teratogens, and alcohol abuse.[4] Role of gene ethyl methanesulfonate-2 mutations is controversial.[5] Clinical presentation includes hemiparesis, developmental delay, microcephaly, intellectual disability, and seizures.[3] Computed tomography (CT) and MRI are definitive for diagnosis. In our case, the child was treated as seizure disorder for about 11 years at peripheral health center by general practitioner, but detail evaluation was not done due to economic condition of parent. It is better to diagnose this anomaly by early neuroimaging such as CT or MRI, as SCH is the only cause of seizure in our case, so it is important to do early diagnosis so that multidisciplinary approach to manage such patient can be established.[6],[7],[8],[9],[10],[11],[12],[13],[14]


  Conclusion Top


Every patient of developmental delay, neuroregression, and seizure disorder should be screen early with radiological imaging to diagnose congenital malformation, and earliest multidisciplinary approach can be instituted.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Bird CR, Gilles FH. Type 1 schizencephaly: CT and neuropathologic findings. Am J Neuroradiol 1987;8:451-4.  Back to cited text no. 1
    
2.
Barkovich AJ, Norman D. MR imaging of schizencephaly. AJR Am J Roentgenol 1988;150:1391-6.  Back to cited text no. 2
    
3.
Curry CJ, Lammer EJ, Nelson V, Shaw GM. Schizencephaly: Heterogeneous etiologies in a population of 4 m?illion California births. Am J Med Genet A 2005;137:181-9.  Back to cited text no. 3
    
4.
Eyre J. Neurodevelopmental disorders. In: Donaghy M, editor. Brain's Diseases of Nervous System. 12th ed. New York: Oxford University Press; 2011. p. 207-36.  Back to cited text no. 4
    
5.
Tietjen I, Bodell A, Apse K, Mendonza AM, Chang BS, Shaw GM, et al. Comprehensive EMX2 genotyping of a large schizencephaly case series. Am J Med Genet A 2007;143A:1313-6.  Back to cited text no. 5
    
6.
Varma A, Meshram RJ, Darvhekar N, Patel Z, Damke SG, Taksande A. Study of Clinical Profile of Neonatal Seizures in a Nicu of Rural Central India. Int J Res Pharm Sci 2020;11:5603-7. Available from: https://doi.org/10.26452/ijrps.v11i4.3198. [Last accessed on 2020 Apr 27].  Back to cited text no. 6
    
7.
Yadav P, Dhaka S, Chaudhary R, Damke S, Lohiya S. A Rare Case Report of Guillain-Barré Syndrome Presenting as Unilateral Facial Palsy with Isolated Acute Bulbar Palsy. J Pediatric Neurosciences 2020;15:157-9. Available from: https://doi.org/10.4103/jpn.JPN_129_19. [Last accessed on 2020 Apr 27].  Back to cited text no. 7
    
8.
Acharya S, Lahole S, Shukla S, Mishra P, Aradhey P. Copper Deficiency Myeloneuropathy with Bicytopenia-a Rare Case Report. Int J Nutr Pharmacol Neurol Dis 2020;10:154-6. Available from: https://doi.org/10.4103/ijnpnd.ijnpnd_17_20. [Last accessed on 2020 Apr 27].  Back to cited text no. 8
    
9.
Fande PZ, Patil SK, Gadbail AR, Ghatage DD, Hande AH, Gawande MN, Chaudhary MS. Neurovascular Hamartoma of Face: An Unusual Clinical Presentation. World Journal of Dentistry 2017;8:151-54. Available from: https://doi.org/10.5005/jp-journals-10015-1429. [Last accessed on 2020 Apr 27].  Back to cited text no. 9
    
10.
Gawande V, Saoji K, Nair A, Saoji K. Radiological Findings of Spinal Neurocysticercosis. Int J Nutr Pharmacol Neurol Dis 2020;12:164-8. Available from: https://doi.org/10.31782/IJCRR.2020.121824. [Last accessed on 2020 Apr 27].  Back to cited text no. 10
    
11.
Goyal C, Naqvi WM, Sahu A. An Atypical Case of Febrile Infection-Related Epilepsy Syndrome Following Acute Encephalitis: Impact of Physiotherapy in Regaining Locomotor Abilities in a Patient with Neuroregression. Pan African Medical Journal 2020;36:1-6. Available from: https://doi.org/10.11604/pamj.2020.36.101.23855. [Last accessed on 2020 Apr 27].  Back to cited text no. 11
    
12.
Jain J, Banait S, Tiewsoh I, Choudhari M. Kikuchi's Disease (Histiocytic Necrotizing Lymphadenitis): A Rare Presentation with Acute Kidney Injury, Peripheral Neuropathy, and Aseptic Meningitis with Cutaneous Involvement. Indian J Pathol Microbiol 2018;61:113-15. Available from: https://doi.org/10.4103/IJPM.IJPM_256_17. [Last accessed on 2020 Apr 27].  Back to cited text no. 12
    
13.
Taksande A, Gandhi A, Meshram R, Gandhi A, Lohakare A. Glioma Presenting as an Isolated Facial Nerve Palsy: A Case Report. Neurology India 2020;68:900-2. Available from: https://doi.org/10.4103/0028-3886.293480. [Last accessed on 2020 Apr 27].  Back to cited text no. 13
    
14.
Taksande A, Meshram R, Lohakare A. A Rare Presentation of Isolated Oculomotor Nerve Palsy Due to Multiple Sclerosis in a Child. International Journal of Pediatrics 2017;5:5525-29. Available from: https://doi.org/10.22038/ijp.2017.24602.2075. [Last accessed on 2020 Apr 27].  Back to cited text no. 14
    


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