Abstract
Septo-optic dysplasia (SOD) is a heterogeneous developmental syndrome involving brain midline anomalies associated with pituitary-hypothalamic, ophthalmological and neurodevelopmental dysfunctions. The phenotype is highly variable making the disease classification difficult. We report a case of severe neonatal hypopituitarism leading to the discovery of cerebral malformations and optic nerve hypoplasia characterizing the SOD-like syndrome. Besides the mild MRI features with normal septum pellucidum, this patient exhibited a life-threatening endocrine phenotype. Rare mutations have been described in the HESX1 gene, which encodes a homeobox transcription factor, associated with various pituitary hormone deficiencies combined with SOD. We isolated the DNA coding region from this candidate gene for sequence analysis. In this 7-year follow-up case report and preliminary genetic screening we discuss diagnostic investigation after management of first clinical presentation, highlighting the neuroimaging on this syndrome.
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