Septo-optic dysplasia with cerebellar hemiagenesis - a rare congenital malformation.

Abdul Haseeb Wani,Arshed Hussain Parry,Feroze A Shaheen,Tariq A Gojwari

doi:10.33883/jms.v22i2.454

Abdul Haseeb Wani, Arshed Hussain Parry + Show 2 more

Open Access

https://doi.org/10.33883/jms.v22i2.454

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Abstract

Septo-optic dysplasia (De morsier’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. Septo-optic dysplasia with associated cerebellar hemiagenesis is a much rarer congenital anomaly and may represent one end of this spectrum.

Highlights

Septo-optic dysplasia (De morsier'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 callosum agenesis or thinning[1]
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]
CASE HISTORY We report a case of a 2 month old girl child, first in birth order and a product of non-consanguineous marriage, who Access this article online

Summary

Introduction

INTRODUCTION Septo-optic dysplasia (De morsier'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 callosum agenesis or thinning[1]. The overall incidence of septo-optic dysplasia is 1 in 10 000 live births. There is no specific gender predilection with males being affected as frequently as females.

Results

Conclusion