Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review.

IF 0.7 Q4 PEDIATRICS Case Reports in Pediatrics Pub Date : 2024-11-20 eCollection Date: 2024-01-01 DOI:10.1155/crpe/7680840
Bassel Hafez, Joudie Sahar Alwan, Walid El Hout, Karim Koussa, Tamara El Annan, Dolly Noun, Ahmad Zaghal
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Abstract

Neurofibromatosis type 2 (NF2), also known as NF2-related schwannomatosis (SWN), is a rare dominantly inherited genetic disorder mainly characterized by the presence of vestibular schwannomas (VSs) in addition to a range of other tumors that affect both the central and peripheral nervous systems. These tumors include cranial, spinal, peripheral nerve, and intradermal schwannomas, cranial and spinal meningiomas, and intrinsic central nervous system (CNS) tumors, usually spinal ependymomas. Juvenile cataracts are also common in patients with NF2, with most symptoms at presentation being hearing loss and visual disturbances. We present the case of a previously healthy 12-year-old girl who presented with postprandial right upper quadrant pain and was found to have a large hydrops of the gallbladder on ultrasound scan of the abdomen. Pathology of the gallbladder post laparoscopic cholecystectomy showed diffuse involvement of the gallbladder by a benign nerve sheath tumor that was suggestive of schwannoma. Further testing confirmed the diagnosis of NF2. This case helps shed light on unusual NF2 symptoms and underscores the importance of recognizing atypical presentations for timely intervention and management. It also adds value to a multidisciplinary approach in diagnosing and managing NF2.

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2型神经纤维瘤病表现为有症状的胆囊积液:罕见病例报告及文献复习。
2型神经纤维瘤病(NF2),也称为NF2相关神经鞘瘤病(SWN),是一种罕见的显性遗传性遗传病,主要特征为前庭神经鞘瘤(VSs)以及一系列影响中枢和周围神经系统的其他肿瘤。这些肿瘤包括颅、脊髓、周围神经和皮内神经鞘瘤,颅和脊髓脑膜瘤,以及固有中枢神经系统(CNS)肿瘤,通常是脊髓室管膜瘤。青少年白内障在NF2患者中也很常见,大多数症状为听力丧失和视力障碍。我们提出的情况下,以前健康的12岁女孩谁提出餐后右上腹部疼痛,并被发现有一个大的胆囊积液超声扫描腹部。腹腔镜胆囊切除术后胆囊病理显示胆囊弥漫性受累于良性神经鞘肿瘤,提示神经鞘瘤。进一步的检测证实了NF2的诊断。本病例有助于阐明不寻常的NF2症状,并强调了识别非典型表现以及时干预和管理的重要性。它还增加了诊断和管理NF2的多学科方法的价值。
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自引率
11.10%
发文量
48
审稿时长
13 weeks
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