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 Table of Contents  
Year : 2016  |  Volume : 2  |  Issue : 1  |  Page : 58-59

Developmental delay in children with septo-optic dysplasia-plus

1 Department of Radiology, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab, India
2 Department of Medicine, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab, India

Date of Web Publication10-Aug-2016

Correspondence Address:
Paramdeep Singh
Department of Radiology, Guru Gobind Singh Medical College and Hospital, Baba Farid University of Health Sciences, Faridkot, Punjab
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2395-4264.188168

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How to cite this article:
Singh P, Kaur R, Tapasvi C, Kaur R. Developmental delay in children with septo-optic dysplasia-plus. Indian J Cereb Palsy 2016;2:58-9

How to cite this URL:
Singh P, Kaur R, Tapasvi C, Kaur R. Developmental delay in children with septo-optic dysplasia-plus. Indian J Cereb Palsy [serial online] 2016 [cited 2020 Aug 10];2:58-9. Available from: http://www.ijcpjournal.org/text.asp?2016/2/1/58/188168


Septo-optic dysplasia (SOD) complex comprises optic nerve and septum pellucidum dysgenesis. The term SOD-plus was lately coined to depict SOD associated with malformations of cortical development. [1] We document a 7-month-old female infant who had psychomotor retardation and was brought us for absent visual fixation which was discovered by parents at 4 months of age. Neurological examination revealed spastic quadriparesis. The ophthalmological evaluation revealed bilateral optic disc hypoplasia. The magnetic resonance imaging scan of the brain exhibited absence of the septum pellucidum, ventricular asymmetry, and bilateral schizencephalic clefts lined by dysplastic gray matter [Figure 1]a and b. The optic nerves and chiasma atrophy were also observed [Figure 2]. Endocrinological (to rule out hypopituitarism) and hepatic function tests were carried out but did not reveal any abnormality. The patient was referred for visual stimulation and physiotherapy.
Figure 1: Axial T2 (a) and axial fluid-attenuated inversion recovery-weighted (b) images show an absence of the septum pellucidum with bilateral open-lip schizencephalic clefts lined with thickened and dysplastic gray matter

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Figure 2: Coronal fluid-attenuated inversion recovery-weighted image shows hypoplasia of the optic nerves and chiasm (arrow)

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SOD or de Morsier's syndrome is a rare developmental and clinically heterogeneous condition defined by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects with the incidence of 1 in 10,000 live births and having equal prevalence in males and females. [1] However, only one-third of the total patients have all the key features of SOD. Visual problems due to optic nerve hypoplasia and ocular malformations are one of the most common presenting signs while endocrine abnormalities may appear later on. The most common endocrine malfunction is growth hormone deficiency, followed by gonadotropin deficiency. The spectrum of pituitary-hypothalamic dysfunction is extremely versatile, ranging from isolated insufficiency of pituitary hormones to panhypopituitarism. Miller et al. originally described the association of SOD and cortical dysplasia. They coined the term SOD-plus and delineated that all the patients with SOD-plus had extreme clinical impairment, global developmental delay, and spastic motor deficits. [1],[2],[3],[4] Ensuing reports of SOD-plus also laid emphasis on other presenting clinical features such as psychomotor development delay, spastic motor deficits, and seizures seen in these patients. The presence of a broad variety of developmental ocular, brain, and other anomalies had been documented in patients with SOD complex. These are corpus callosum dysgenesis, schizencephaly, facial abnormalities, blepharophimosis, microphthalmos, anophthalmia, strabismus, olfactory tract hypoplasia, pubertal abnormalities, microphallus, autism, and cardiac and skeletal deformities. The exact causes of the brain anomalies are little-known, but the most often etiologies refer to embryonic vascular insult, primarily in the 6-7 th week of embryogenesis, hemorrhage during the first trimester of pregnancy, primiparity, and young maternal age and maternal alcohol or drug addiction during pregnancy. [2],[3],[4],[5] To conclude, the importance of MRI in the management of this syndrome cannot be overemphasized and MR findings must be correlated with the clinical findings of these patients. Furthermore, possibility of SOD-plus should be considered in children with SOD and developmental delay.

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  References Top

Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM. Septo-optic dysplasia plus: A spectrum of malformations of cortical development. Neurology 2000;54:1701-3.  Back to cited text no. 1
Garcia ML, Ty EB, Taban M, David Rothner A, Rogers D, Traboulsi EI. Systemic and ocular findings in 100 patients with optic nerve hypoplasia. J Child Neurol 2006;21:949-56.  Back to cited text no. 2
Atapattu N, Ainsworth J, Willshaw H, Parulekar M, MacPherson L, Miller C, et al. Septo-optic dysplasia: Antenatal risk factors and clinical features in a regional study. Horm Res Paediatr 2012;78:81-7.  Back to cited text no. 3
Signorini SG, Decio A, Fedeli C, Luparia A, Antonini M, Bertone C, et al. Septo-optic dysplasia in childhood: The neurological, cognitive and neuro-ophthalmological perspective. Dev Med Child Neurol 2012;54:1018-24.  Back to cited text no. 4
Riedl SW, M.cal, cognitive and neuro-ophthalmological perspective. Dev Med Child Neurol 2012;54:101ogical and MRI findings in 25 Austrian patients with septo-optic dysplasia (SOD). Preliminary data. Horm Res 2002;58 Suppl 3:16-9.  Back to cited text no. 5


  [Figure 1], [Figure 2]


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