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垂体柄重复畸形的定位:病例报告并文献复习。

Finding its place on the spectrum of pituitary duplication disorders, duplication of pituitary stalk: A case report with brief review of literature.

机构信息

Department of Radiodiagnosis, Institute of Medical Sciences and SUM Hospital, Siksha 'O' Anusandhan deemed to be University, Odisha, India.

出版信息

Neuroradiol J. 2024 Jun;37(3):357-360. doi: 10.1177/19714009231193157. Epub 2023 Jul 28.

Abstract

Pituitary gland duplication is a rare abnormality and isolated duplication of the pituitary stalk without any pituitary anomaly is an even rarer entity with this case being the first documented case till date. Although incidentally discovered cases of duplication of pituitary gland (DPG) have been reported, sometimes with a duplicated pituitary stalk, patients with this disorder usually present with other craniofacial abnormalities. Consequently, DPG plus syndrome is used as it is often accompanied by endocrine disturbances and pathologies such as median cleft face syndrome, ocular disorders, craniocervical bony abnormalities, vascular anomalies and tuberomammillary masses. Since this is the first reported case without any additional pituitary gland anomaly, we propose the acronym DPS (duplication of pituitary stalk) to be used to unify this entity as we are certain that much like the previously described pituitary duplication disorders, more cases will be documented independently rather than under the umbrella of pituitary duplication disorders. This is critical as the life expectancy (age of diagnosis) in the cases reviewed in our study is as good as normal population with no obvious increase in mortality as compared to existing pituitary duplication syndromes. We present a case report of a 2 year 7 month old girl who was referred by the paediatrician for evaluation of premature thelarche. The duplication of the pituitary stalk along with mega cisterna magna and tuberomammillary fusion was the only positive finding on imaging with the pituitary gland being absolutely normal.

摘要

垂体腺重复是一种罕见的异常,孤立性垂体柄重复而没有任何垂体异常更是一种罕见的实体,本例是迄今为止首例有记录的病例。虽然偶然发现的垂体腺重复(DPG)病例已有报道,有时伴有重复的垂体柄,但患有这种疾病的患者通常还伴有其他颅面异常。因此,使用 DPG 综合征,因为它通常伴有内分泌紊乱和病理改变,如正中裂面综合征、眼部疾病、颅颈骨异常、血管异常和乳头体肿块。由于这是首例无任何额外垂体异常的报告病例,我们建议使用 DPS(垂体柄重复)的缩写来统一这一实体,因为我们确信,与之前描述的垂体重复障碍一样,更多的病例将独立记录,而不是在垂体重复障碍的保护伞下。这一点很重要,因为我们研究中回顾的病例的预期寿命(诊断年龄)与正常人群一样好,与现有的垂体重复综合征相比,死亡率没有明显增加。我们报告了一例 2 岁 7 个月大的女孩病例,她由儿科医生转介来评估性早熟。影像学检查仅发现垂体柄重复、巨大的脑池和乳头体融合,而垂体完全正常。

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