Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding.

Autor: Pascoe HM; Department of Medical Imaging, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia. pascoeh@gmail.com., Fink AM; Department of Medical Imaging, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia.; Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg, VIC, Australia., Kumbla S; Department of Medical Imaging, Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria, 3052, Australia.; Department of Diagnostic Imaging, Monash Health, Clayton, VIC, Australia.
Jazyk: angličtina
Zdroj: Pediatric radiology [Pediatr Radiol] 2020 May; Vol. 50 (6), pp. 863-868. Date of Electronic Publication: 2020 Feb 26.
DOI: 10.1007/s00247-020-04634-z
Abstrakt: Background: Septopreoptic holoprosencephaly is a mild form of holoprosencephaly in which the midline non-separation is restricted to the septal or preoptic regions. This entity has only been described in a small case series in which associated intracranial abnormalities were limited to the midline structures.
Objective: To describe the radiologic findings of septopreoptic holoprosencephaly and highlight that it can be associated with a variety of intracranial abnormalities, not merely with abnormalities restricted to midline structures as previously reported.
Materials and Methods: We retrospectively identified 22 children whose MRIs were confirmed to have non-separation restricted to the septal and preoptic region, fulfilling the criteria for septopreoptic holoprosencephaly. We then categorized MRIs as having, in addition, either intracranial abnormalities limited to the midline structures or major abnormalities not limited to the midline structures.
Results: Five children had intracranial abnormalities limited to the midline structures. Seventeen children had major intracranial abnormalities not limited to the midline structures. The major abnormalities included: patterning defects of the midbrain-hindbrain (elongated midbrain, shortened pons, shortened/elongated medulla, partial rhombencephalosynapsis), bilateral perisylvian polymicrogyria, microcephaly, megalencephaly and a spheno-ethmoidal encephalocele. Recognized syndromes/chromosomal abnormalities were also observed in this patient group.
Conclusion: Our results suggest that septopreoptic holoprosencephaly has been under-recognized and under-reported to date. We propose that searching for this anomaly should be part of the complete assessment of the midline in all children undergoing brain MRI for intracranial malformations.
Databáze: MEDLINE
Externí odkaz: