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Delineating septo-optic dysplasia.

Mark Lubinsky1, Férechté Encha-Razavi2

  • 1Necker University Hospital, Paris, France.

Birth Defects Research
|October 6, 2022
PubMed
Summary
This summary is machine-generated.

Septo-optic dysplasia (SOD) is a vascular sequence. Disruptions in the anterior cerebral artery cause optic nerve hypoplasia (ONH) and septum pellucidum defects (SPD), which can extend to the pituitary or cortex.

Keywords:
anterior cerebral arterydisruptionhemorrhagelimbic systemoptic nerve hypoplasiapituitaryschizencephalysepto-optic dysplasiaseptum pellucidumthrombosis

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Septo-optic dysplasia (SOD) is characterized by septum pellucidum defects (SPD), optic nerve hypoplasia (ONH), and hypopituitarism.
  • The definition and scope of SOD have expanded, leading to uncertainty regarding its causes and limits.

Purpose of the Study:

  • To review the literature on septo-optic dysplasia (SOD).
  • To clarify the underlying vascular mechanisms and spectrum of anomalies associated with SOD.

Main Methods:

  • A comprehensive literature review was conducted.

Main Results:

  • SOD is understood as a complex vascular sequence with confounding factors.
  • Disruptions of the proximal anterior cerebral artery trunk are the primary cause, leading to ONH and SPD.
  • Anomalies can extend unidirectionally from ONH to the pituitary or from SPD to the cerebral cortex.

Conclusions:

  • Isolated pituitary or cortical defects are not part of SOD.
  • By-products of these disruptions can cause cognitive, endocrine, and structural issues.
  • Increasing rates of midline defects may be linked to exogenous exposures influencing midline predispositions.