Al-Musalhi Buthaina, Al-Balushi Zainab
Pediatric Dermatology Unit, Sultan Qaboos University Hospital, Muscat, Oman.
Surgery Department, Sultan Qaboos University Hospital, Muscat, Oman.
Oman Med J. 2020 Nov 30;35(6):e204. doi: 10.5001/omj.2020.99. eCollection 2020 Nov.
PHACES syndrome comprises osterior fossa malformations, segmental emangioma, rterial anomalies, ardiac defects, ye anomalies and less commonly, ternal cleft, or supraumbilical raphe. We report a case of PHACES syndrome associated with intestinal hemangioma causing recurrent intussusceptions. A full-term infant female presented at the age of three months with segmental distribution of telangiectatic patch with red swelling involving the right periorbital area, right forehead, and lips. After a full workup and evaluation, the diagnosis of PHACES syndrome was confirmed based on the presence of facial segmental hemangioma, hypoplastic right internal carotid artery, intracranial hemangioma, and right optic disc anomaly. At the time of workup, she developed typical symptoms of intussusception. Diagnostic laparoscopy was performed, and she was found to have hemangioma covering the whole ileal wall and a thickened circumferential hemangioma covering the mid ilium causing the lead point of the intussusception. Control of this patient's hemangiomas was achieved by surgical resection of the thickened circumferential hemangioma covering the mid ilium along with oral propranolol. We reviewed the literature to explore the relationship between gastrointestinal (GI) hemangioma and PHACES syndrome and compared other associated extracutaneous hemangioma of the same series. We found 18 (58%) reported cases of GI hemangioma compared to other visceral hemangiomas on the same series of confirmed PHACE syndrome. All of the reported cases in this series present with anemia and GI bleeding except our patient who had intussusception. This might indicate the significant association of GI hemangioma as extracutaneous hemangioma in PHACES syndrome, emphasizing the importance of investigating symptomatic patients.
PHACES综合征包括后颅窝畸形、节段性血管瘤、动脉异常、心脏缺陷、眼部异常，较少见的还有腭裂或脐上中线。我们报告1例与肠血管瘤相关并导致复发性肠套叠的PHACES综合征病例。一名足月女婴在3个月大时就诊，其右侧眶周区域、右前额和嘴唇出现节段性分布的毛细血管扩张斑伴红肿。经过全面检查和评估，基于面部节段性血管瘤、右侧颈内动脉发育不全、颅内血管瘤及右侧视盘异常，确诊为PHACES综合征。在检查过程中，她出现了典型的肠套叠症状。进行了诊断性腹腔镜检查，发现她的整个回肠壁有血管瘤，且覆盖髂骨中部的环形血管瘤增厚，成为肠套叠的套入点。通过手术切除覆盖髂骨中部的增厚环形血管瘤并口服普萘洛尔，控制了该患者的血管瘤。我们查阅文献以探讨胃肠道（GI）血管瘤与PHACES综合征之间的关系，并比较同一组中其他相关的皮肤外血管瘤。我们发现，在同一组确诊的PHACES综合征病例中，与其他内脏血管瘤相比，有18例（58%）报告了GI血管瘤。除了我们的患者表现为肠套叠外，该组所有报告病例均有贫血和GI出血。这可能表明GI血管瘤作为PHACES综合征中的皮肤外血管瘤具有显著相关性，强调了对有症状患者进行检查的重要性。
