Mehkri Yusuf, Surapaneni Krishna, Tarhan Bedirhan, Eisenbach Tiffany, Bilgili Ahmet, Tuna Ibrahim S, Shuhaiber Hans H, Anyane-Yeboa Kwame
Neurosurgery, University of Florida College of Medicine, Gainesville, USA.
Neuroradiology, Austin Radiological Association, Austin, USA.
Cureus. 2022 Jan 30;14(1):e21735. doi: 10.7759/cureus.21735. eCollection 2022 Jan.
Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder for which the diagnosis is often overlooked. The objective of this case report is to highlight how clinical features used in conjunction with brain MRI findings can lead to an expeditious diagnosis without the need for invasive measures or genetic test results. We present the case of a three-day-old infant delivered at 34 and 4/7 weeks gestation who presented with mild respiratory distress and bilious emesis in the setting of an uncomplicated gestational course and vaginal delivery with no known teratogen exposure. A diagnosis of Pallister-Hall syndrome was made on the basis of physical exam findings, hormonal abnormalities and the identification of a hypothalamic hamartoma on brain MRI. The patient underwent multiple procedures for diagnosis and management of PHS complications, including a diverting jejunostomy for a long-segment Hirschsprung's and a laryngoscopy which identified a bifid epiglottis. The patient tolerated the interventions and did not have seizures on admission. The MRI brain detection of a hypothalamic hamartoma led to an earlier diagnosis of Pallister-Hall syndrome and thus further screening and identification of complications associated with this disorder were performed before genetic analyses or brain biopsies were obtained. Given the unique MRI features of hypothalamic hamartomas, brain MRI can be a useful tool for making an early PHS diagnosis when taken with clinical features concerning possible PHS.
帕利斯特-霍尔综合征（PHS）是一种极为罕见的遗传性疾病，其诊断常常被忽视。本病例报告的目的是强调如何将临床特征与脑部磁共振成像（MRI）结果相结合，从而在无需进行侵入性检查或获取基因检测结果的情况下迅速做出诊断。我们报告一例孕34周加4/7天出生的3日龄婴儿，其孕期过程正常，经阴道分娩，无已知致畸物暴露史，出生后出现轻度呼吸窘迫和胆汁性呕吐。根据体格检查结果、激素异常以及脑部MRI发现下丘脑错构瘤，诊断为帕利斯特-霍尔综合征。该患者接受了多项用于诊断和处理PHS并发症的手术，包括为长段先天性巨结肠行空肠造瘘术以及喉镜检查发现会厌裂。患者耐受了这些干预措施，入院时未发生癫痫。脑部MRI检测到下丘脑错构瘤使得帕利斯特-霍尔综合征得以早期诊断，因此在进行基因分析或脑活检之前，对与该疾病相关的并发症进行了进一步筛查和识别。鉴于下丘脑错构瘤独特的MRI特征，当结合可能患有PHS的临床特征时，脑部MRI可成为早期诊断PHS的有用工具。
