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.

中文翻译：

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颅内异常的中视远视全脑：中线发现不足。

背景技术中视远视前脑是一种轻中度视前脑，其中中线不分离仅限于中隔或视前区域。仅在一个小病例系列中描述了这个实体，在该系列中，相关的颅内异常仅限于中线结构。目的描述中视远视性全脑性头颅的影像学表现，并强调其可能与多种颅内异常有关，而不仅仅是先前报道的限于中线结构的异常。材料与方法我们回顾性鉴定了22例MRI确诊为隔室和视前区非分离的儿童，其符合中视远视全前脑标准。然后，我们将MRI归类为 颅内异常不仅限于中线结构，或者主要异常不限于中线结构。结果5名儿童的颅内异常局限于中线结构。17名儿童有严重的颅内异常，不仅限于中线结构。主要的异常包括：中脑-后脑的图案缺陷（中脑延长，脑桥缩短，髓质缩短/延长，部分菱形脑突触），双侧筋膜周围多小神经质，小头畸形，大头畸形和蝶窦筛状脑膨出。在该患者组中还观察到公认的综合征/染色体异常。结论我们的研究结果表明，迄今为止，对中视远视性全脑畸形的认识和报道不足。