Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review
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. Th...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/crpe/7680840 |
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| author | Bassel Hafez Joudie Sahar Alwan Walid El Hout Karim Koussa Tamara El Annan Dolly Noun Ahmad Zaghal |
| author_facet | Bassel Hafez Joudie Sahar Alwan Walid El Hout Karim Koussa Tamara El Annan Dolly Noun Ahmad Zaghal |
| author_sort | Bassel Hafez |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-455d937b3bd14f6c929f15ae226dc01d |
| institution | Kabale University |
| issn | 2090-6811 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-455d937b3bd14f6c929f15ae226dc01d2024-11-28T05:00:02ZengWileyCase Reports in Pediatrics2090-68112024-01-01202410.1155/crpe/7680840Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature ReviewBassel Hafez0Joudie Sahar Alwan1Walid El Hout2Karim Koussa3Tamara El Annan4Dolly Noun5Ahmad Zaghal6Department of SurgeryDepartment of Emergency MedicineThe Christie NHS Foundation TrustDepartment of SurgeryDepartment of Diagnostic RadiologyDepartment of Pediatrics and Adolescent MedicineDepartment of SurgeryNeurofibromatosis 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.http://dx.doi.org/10.1155/crpe/7680840 |
| spellingShingle | Bassel Hafez Joudie Sahar Alwan Walid El Hout Karim Koussa Tamara El Annan Dolly Noun Ahmad Zaghal Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review Case Reports in Pediatrics |
| title | Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review |
| title_full | Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review |
| title_fullStr | Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review |
| title_full_unstemmed | Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review |
| title_short | Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review |
| title_sort | neurofibromatosis type 2 presenting as symptomatic gallbladder hydrops a rare case report and literature review |
| url | http://dx.doi.org/10.1155/crpe/7680840 |
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