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Table of Contents    
LETTER TO EDITOR
Year : 2021  |  Volume : 69  |  Issue : 3  |  Page : 764-765

Septo-Optic Dysplasia with Cerebellar Hemiagenesis: A Rare Congenital Malformation


1 Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India
2 Department of Pathology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Jammu & Kashmir, India

Date of Submission22-Nov-2018
Date of Decision06-May-2019
Date of Acceptance20-Jan-2020
Date of Web Publication24-Jun-2021

Correspondence Address:
Dr. Arshed H Parry
Department of Radiodiagnosis, Sher-i-Kashmir Institute of Medical Sciences, Soura, Srinagar, Jammu & Kashmir - 190 011
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.319200

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How to cite this article:
Wani AH, Parry AH, Feroz I, Robbani I. Septo-Optic Dysplasia with Cerebellar Hemiagenesis: A Rare Congenital Malformation. Neurol India 2021;69:764-5

How to cite this URL:
Wani AH, Parry AH, Feroz I, Robbani I. Septo-Optic Dysplasia with Cerebellar Hemiagenesis: A Rare Congenital Malformation. Neurol India [serial online] 2021 [cited 2021 Sep 24];69:764-5. Available from: https://www.neurologyindia.com/text.asp?2021/69/3/764/319200




Sir,

We report a case of a 2-month-old girl child, first in birth order and a product of non-consanguineous marriage, who was diagnosed as having hydrocephalus on antenatal ultrasound. The patient was followed up postnatally and a noncontrast CT head was done at the age of 1 month which also revealed hydrocephalus. MRI brain revealed the absence of septum pellucidum and thinning of corpus callosum, box-shaped dilated lateral ventricles, down-pointing of frontal horns of lateral ventricles [Figure 1], cerebellar hemiagenesis, and rudimentary vermis on left side [Figure 2], cerebral volume loss and hypoplastic left optic nerve with normal optic chiasma [Figure 3]. Fundus examination revealed hypoplastic left optic disc. Based on radiological and ophthalmological evidence of absence of septum pellucidum, hypoplasia of optic disc and nerves, thinning of corpus callosum diagnosis of De Mortier's syndrome (septo-optic dysplasia) was made.
Figure 1: Coronal T2W (a) and Sagittal T1W (b) MR images of brain reveal dilated lateral ventricles with absent septum pellucidum, down pointing of frontal horns and thinning of corpus callosum (arrow). Cerebral volume loss is also noted

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Figure 2: Axial T2W (a) and T1W (b) MR images of brain reveal agenesis of left cerebellar hemisphere (black arrow) with rudimentary vermis (white arrow)

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Figure 3: Coronal CISS MR images of brain reveal hypoplastic left optic nerve (a) with normal optic chiasma (b)

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Septo-optic dysplasia (De Mortier's syndrome) is a rare congenital malformation of the central nervous system and represents a clinical spectrum rather than a specific entity. It is defined by any combination of pituitary hypoplasia with or without consequent panhypopituitarism, optic nerve hypoplasia, and midline neurological abnormalities such as absent septum pellucidum and corpus collasum agenesis or thinning.[1] The overall incidence of septo-optic dysplasia is 1 in 10 000 live births. There appears to be some correlation with maternal age as infants born to younger mothers seem to be affected more commonly than others.[2],[3] A number of risk factors have been identified including maternal diabetes, medications like quinidine ingestion and antiepileptics, drug and alcohol abuse and cytomegalovirus infection.[1],[4] Among the major reported clinical findings, hypopituitarism is seen in 62–80% of the cases with growth hormone deficiency being the commonest endocrine abnormality. Significant visual impairment is found in 23% of the cases. Developmental delay is more common in children with bilateral optic nerve hypoplasia (57%) as compared to those with unilateral optic nerve hypoplasia (32%). Mental subnormality, learning disorders, epilepsy, hypotonia, hemiparesis spastic diparesis, communication difficulties which at times evolve into a frank autism spectrum disorder, are frequently observed in children with septo-optic-pituitary dysplasia complex. The present case of septo-optic dysplasia with cerebellar hemiagenesis is the first such reported case. Given the myriad phenotypic variability of septo-optic dysplasia it is said to result from a complex interaction between genetics and external environmental factors. There is ongoing research in the field to understand the etiology of this syndrome as the exact etiology is still unknown and much needs to be unravelled. Currently in the absence of a cure, the treatment is directed towards correction of hormone deficiency and visual and physical rehabilitation.

Financial support and sponsorship

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Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Kelberman D, Dattani MT. Genetics of septo-optic dysplasia. Pituitary 2007;10:393-407.  Back to cited text no. 1
    
2.
Patel L, McNally RJ, Harrison E, Lloyd IC, Clayton PE. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr 2006;148:85-8.  Back to cited text no. 2
    
3.
Elster AB, McAnarney ER. Maternal age re septo-optic dysplasia. J Pediatr 1979;94:162-3.  Back to cited text no. 3
    
4.
McNay DE, Turton JP, Kelberman D, Woods KS, Brauner R, Papadimitriou A, et al. HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism. J Clin Endocrinol Metab 2007;92:691-7.  Back to cited text no. 4
    


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