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.
Pediatr Radiol. 2020 May;50(6):863-868. doi: 10.1007/s00247-020-04634-z. Epub 2020 Feb 26.
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.
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.
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.
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.
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.
隔-前脑性无脑畸形是一种轻度的无脑畸形，中线未分离仅限于隔区或前脑区。这种疾病仅在一系列小病例中描述过，其中颅内异常仅限于中线结构。
描述隔-前脑性无脑畸形的影像学表现，并强调其可与多种颅内异常相关，而不仅仅是如前所述的仅限于中线结构的异常。
我们回顾性地确定了 22 名儿童，他们的 MRI 证实中线未分离仅限于隔区和前脑区，符合隔-前脑性无脑畸形的标准。然后，我们将 MRI 分为中线结构异常和非中线结构异常。
5 名儿童的颅内异常仅限于中线结构。17 名儿童的颅内异常主要不局限于中线结构。主要异常包括：中脑-后脑的模式缺陷（延长的中脑、缩短的脑桥、缩短/延长的延髓、部分菱脑融合）、双侧顶枕叶多微小脑回、小头畸形、巨脑畸形和蝶筛突脑膨出。在该患者组中还观察到了一些已知的综合征/染色体异常。
我们的结果表明，迄今为止，隔-前脑性无脑畸形一直被低估和漏诊。我们建议，在所有因颅内畸形行脑 MRI 检查的儿童中，应将搜索这种异常作为中线完整评估的一部分。
