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Septo-optic dysplasia with cerebellar hemiagenesis - a rare congenital malformation.
Author(s) -
Arshed Hussain Parry,
Abrar Ahad Wani,
Tariq Gojwari,
Feroze Shaheen
Publication year - 2019
Publication title -
journal of medical sciences/journal of medical sciences (srinagar. online)
Language(s) - English
Resource type - Journals
eISSN - 2582-063X
pISSN - 0972-110X
DOI - 10.33883/jms.v22i2.454
Subject(s) - septum pellucidum , medicine , optic nerve hypoplasia , dysplasia , agenesis , hypoplasia , anatomy , optic nerve , pathology
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.

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