Septopreoptic holoprosencephaly in intracranial abnormalities: an under-diagnosed midline finding
| Autor: | Surekha Kumbla, Heather Michelle Pascoe, A. Michelle Fink |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Male
Microcephaly Adolescent 030218 nuclear medicine & medical imaging Encephalocele Craniofacial Abnormalities 03 medical and health sciences 0302 clinical medicine Holoprosencephaly medicine Humans Radiology Nuclear Medicine and imaging Abnormalities Multiple Megalencephaly Craniofacial Child Neuroradiology Retrospective Studies medicine.diagnostic_test business.industry Infant Newborn Infant Magnetic resonance imaging Anatomy medicine.disease Perisylvian polymicrogyria Magnetic Resonance Imaging Child Preschool Pediatrics Perinatology and Child Health Female business 030217 neurology & neurosurgery |
| Zdroj: | Pediatric radiology. 50(6) |
| ISSN: | 1432-1998 |
| Popis: | 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: | OpenAIRE |
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