SEPTO-OPTIC DYSPLASIA SYNDROME: A CASE REPORT

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ASHRAFI M.R.; NIKKHAH A.; ALIZADEH H.

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Journal: Iranian Journal of Pediatrics Year:2006 | Volume:16 | Issue:1 Page(s): 89-94

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Title

SEPTO-OPTIC DYSPLASIA SYNDROME: A CASE REPORT

Author(s)

ASHRAFI M.R. | NIKKHAH A. | ALIZADEH H. | Issue Writer Certificate

Keywords

SEPTO-OPTIC DYSPLASIAQ3

OPTIC NERVE ATROPHYQ3

SEPTUM PLLUCIDUMQ3

DIABETES INSIPIDUSQ3

Abstract

Objective: SEPTO-OPTIC DYSPLASIA consists of optic nerve and septum pellucidum dysgenesis. This syndrome is divided into two subgroups (with or without schizencephaly) based on embryological and neuropathologic findings. In about 2/3 of the patients pituitary and hypothalamic dysfunction leads to DIABETES INSIPIDUS, hypothyroidism and isolated GH deficiency. The association of this syndrome with cortical dysplasia is named SEPTO-OPTIC DYSPLASIA plus. Case report: We report on a 2 year-old girl with visual loss, polyuria and Polydipsia. Her parents noticed visual problem as she was 2 months old. We found right hemiparesis, bilateral cupping and hypoplasia of the optic discs. CT scan, showed lobar holoporencephaly and ventriculomegaly. In MRI SEPTO-OPTIC DYSPLASIA, and atrophy of the optic nerves and chiasma as well as absence of SEPTUM PLLUCIDUM were seen. In addition, we found central DIABETES INSIPIDUS and partial GH deficiency in this case. Conclusion: This case illustrates the usefulness of MRI and other imaging procedures in diagnosing septo-optic and septum pellucidum dysplasia in children with developmental retardation.

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APA: Copy

ASHRAFI, M.R., NIKKHAH, A., & ALIZADEH, H.. (2006). SEPTO-OPTIC DYSPLASIA SYNDROME: A CASE REPORT. IRANIAN JOURNAL OF PEDIATRICS, 16(1), 89-94. SID. https://sid.ir/paper/76028/en

Vancouver: Copy

ASHRAFI M.R., NIKKHAH A., ALIZADEH H.. SEPTO-OPTIC DYSPLASIA SYNDROME: A CASE REPORT. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2006;16(1):89-94. Available from: https://sid.ir/paper/76028/en

IEEE: Copy

M.R. ASHRAFI, A. NIKKHAH, and H. ALIZADEH, “SEPTO-OPTIC DYSPLASIA SYNDROME: A CASE REPORT,” IRANIAN JOURNAL OF PEDIATRICS, vol. 16, no. 1, pp. 89–94, 2006, [Online]. Available: https://sid.ir/paper/76028/en

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