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NEURORADIOLOGY Table of Contents   
Year : 2006  |  Volume : 16  |  Issue : 3  |  Page : 321-323
Septo-optic dysplasia with unilateral open lip schizencephaly:A case report


From the Registrar Radiologist, Insurance Hospital, Riyadh, Saudi Arabia

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Keywords: Septo-optic dysplasia, open hip schizencephaly

How to cite this article:
Rajderkar D, Phatak S V, Kolwadkar P K. Septo-optic dysplasia with unilateral open lip schizencephaly:A case report. Indian J Radiol Imaging 2006;16:321-3

How to cite this URL:
Rajderkar D, Phatak S V, Kolwadkar P K. Septo-optic dysplasia with unilateral open lip schizencephaly:A case report. Indian J Radiol Imaging [serial online] 2006 [cited 2019 Aug 22];16:321-3. Available from: http://www.ijri.org/text.asp?2006/16/3/321/29006

   Case report Top


23 years female patient presented with near total blindness since birth, moderate developmental delay, seizures, growth retardation, and motor dysfunction. There was no history of congenital anomalies in the family. MRI was done for a detailed NeuroRadiological Investigation. [Figure - 1][Figure - 2][Figure - 3][Figure - 4][Figure - 5]


   Introduction Top


Schizencephalies are migrational disorders of brain which are characterized by gray matter lined cleft that extends from the ependymal surface of the brain through whitemater to pia [1] Gray matter is dysplastic and Heterotopic [2] The margins of the clefts may be either widely separated by interposing cerebrospinal fluid space (open lip form) or opposed to one another (closed lip form)[3]


   Discussion Top


Schizencephaly is the most complete form of migrational disorders. It is thought to be caused by a complete agenesis of a section of the cerebral tissue, which results in clefts that extend through the entire thickness of cerebral hemisphere. At the margin of the cleft the pial membrane and ependymal lining of the ventricle lie adjacent to each other and form a pial ependymal seam [4] Schizencephaly probably occurs as the end result of a variety of insults occuring at a critical time and in a critical location during brain development. No specific inciting or unusual prenatal events are described. The lesion is most likely related to multiple etiologies including genetic, toxic, metabolic, vascular or infectious disease. Familial cases have been reported. [5] Septooptic dysplasia, also called as De Morsier disease is a syndrome consisting of blindness, hypoplastic optic nerves and absence of septum pellucidum in females. [4] It is known that Schizencephaly and septo-optic dysplasia frequently coexists. [6] Associated anomalies are heterotopias, Dandy Walker malformation, hydrocephalus and polymicrogyria. [3] Cleft may be unilateral or bilateral, symmetrical or asymmetrical. Commonly located near pre/post central gyrus [1],[2] The cleft in Schizencephaly are lined either totally or in part by gray matter and extend from pial surface to ependyma of the lateral ventricle. The clefts can be located anywhere but commonly occur in parasylvian regions. The cavity formed in open lip type varies in size from small to large and may communicate with lateral ventricle. The ventricular system may be enlarged, particularly in-patients with open lip form of Schizencephaly. [5] Absence of septum pellucidum, dysgenesis of corpus callosum are often associated with open lip Schizencephaly [3,4] Differential diagnosis includes subarachnoid cysts and porencephaly. Using CT diagnosis of Schizencephaly is sometimes difficult particularly in case of type I. CT may show a slight outpouching at the ependymal surface of cleft and a full thickness cleft may be difficult to identify on CT Scan .Secondary findings like hydrocephalus, heterotopia, polymicrogyria, subdural hygromas and arachnoid cysts can be identified. [5] MRI gives most detailed and precise definition of anatomy and anomaly. For anatomy T1Wimages suffice [3] MRI is the modality of choice. MRI better delineates the gray matter lining the cleft, which is pathognomonic finding in Schizencephaly.MRI also provides superb cortical anatomy detail and multiplanar capacity. Primary findings related to the cleft and secondary findings associated with Schizencephaly are identified using MRI.The ability of MRI pulse sequence to differentiate gray matter and white matter permit demonstration of graymatter heterotopias in the subcortical white matter beneath the cleft, abnormalities involving the cortex (pachygyria and polymicrogyria) and other secondary findings are also identified. Homolateral absence of sylvian vasculature, small medullary pyramids low position of fornix and thinning of the corpus callosum are findings related to absent cerebral cortex and are better demonstrated by MRI than with other studies.

Sonography can be done in neonatal period in-patients in whom this anomaly is suspected. In Schizencephaly type I, a hyperechoic line extends from the parasylvian region to the anterior portion of lateral ventricle. The hyperechoic line represents the cortex lining the fused cleft. This type of anomaly is difficult to detect with ultrasound and requires high index of suspicion and highly skilled operator. In Schizencephaly type II an anechoic band or cavity, representing the fluid filled cleft extends from the cortical surface of lateral ventricle. The meeting of the closed lip portion or apex of the cleft with the margin of ventricle may be identified as a ventricular diverticulum or dimple. The size of the caudate, thalamus and lenticular nuclei (subcortical gray matter structures) is decreased. Other associated anomalies such as ventricular enlargement may also be identified. [5]

This case represents a typical association of septo-optic dysplasia with open lip Schizencephaly with all cardinal neurological cardinal features on one hand and a rare form of unilateral open lip cleft on the other. It highlights the importance of MRI in diagnosis of such a condition.[6]

 
   References Top

1.S.K.Sethi, R.S.Solanki Radiological Quiz. Indian J. Radiology and Imaging, 2004,14:1:95-96.  Back to cited text no. 1    
2.D.A Shah, G.D.Rathod, Radiological Quiz Ind J Radiology and Imaging, 2005,15:1:127-128.  Back to cited text no. 2    
3.Yutaka Sato, Simon C.S.Kao, and Wilbur L.Smith, RCNA, March 1991, Vol. 29,No 2 :179-194,  Back to cited text no. 3    
4.C.Raybaud Destructive lesions of Brain Neuroradiology 1983; 25:265-291.  Back to cited text no. 4    
5.Ken R.Close Schizencephaly www emedicine.com/radio/topic622.htm last updated April 7, 2004  Back to cited text no. 5    
6.AJNR, Mar/Apr, 1988:9:297-302.:MR imaging of Schizencephaly; A.James Barkovich, David Norman.  Back to cited text no. 6    

Top
Correspondence Address:
D Rajderkar
C/O Mr S.L.Dande, RA 301,Bhagwaghar Complex, Dharampeth, Nagpur, 10 (M.S), India

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-3026.29006

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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]

This article has been cited by
1 Schizencephaly
Santra, G., Sen, S.S.
Journal, Indian Academy of Clinical Medicine. 2008; 9(3): 233-236
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