Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report
Introduction: Abdominal ultrasound (US) is frequently used in patients with Wilson disease (WD) to identify possible renal and hepatic involvement. KBG syndrome (KBGs) is a rare condition characterized by skeletal abnormalities and intellectual disability, which usually has no abdominal manifestatio...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-06-01
|
| Series: | Journal of Pediatric Surgery Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576625000478 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849310732973244416 |
|---|---|
| author | Vincenzo Bagnara Gaetano Magro Agata Massimino Salvatore Arena Gabriela Vallejo Chamorro Fabiola Cassaro |
| author_facet | Vincenzo Bagnara Gaetano Magro Agata Massimino Salvatore Arena Gabriela Vallejo Chamorro Fabiola Cassaro |
| author_sort | Vincenzo Bagnara |
| collection | DOAJ |
| description | Introduction: Abdominal ultrasound (US) is frequently used in patients with Wilson disease (WD) to identify possible renal and hepatic involvement. KBG syndrome (KBGs) is a rare condition characterized by skeletal abnormalities and intellectual disability, which usually has no abdominal manifestations. Case presentation: A 12-year-old girl, affected by WD and KBGs, was referred to us due to a 51 × 34 mm cystic mass on the left ovary seen by abdominal US, initially interpreted as a left ovarian cyst. She underwent monthly follow-up US that showed a progressive increase in the size of the cyst. By the fourth month, the features had changed to a complex formation of the left ovary. Tumor markers, including CA125, AFP and BHCG, among others) were within normal limits. The patient was taken electively to the operating room for a laparoscopic resection of the suspected complex ovarian lesion. Intraoperatively we found a solid mass that connected on one side to the left parametrium and on the other side to a jejunal loop through what appeared to be a pseudo mesentery. The left ovary only had a simple cyst of approximately 3 cm in diameter. The right ovary and both Fallopian tubes were normal. We detached the mass from both connections using surgical staplers. She recovered well from the operation and was discharged home on the seventh postoperative day. The pathology analysis was consistent with an inflammatory myofibroblastic pseudotumor, and the margins were free of disease. At one year of follow-up with US and magnetic resonance imaging she has had no signs of recurrence. Conclusion: The preoperative evaluation of adnexal and pelvic masses in syndromic females should include cross-sectional imaging, as ultrasound may not provide sufficient anatomical detail. |
| format | Article |
| id | doaj-art-9d82e8db933e4380ae5bcc272e25f4ea |
| institution | Kabale University |
| issn | 2213-5766 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatric Surgery Case Reports |
| spelling | doaj-art-9d82e8db933e4380ae5bcc272e25f4ea2025-08-20T03:53:38ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662025-06-0111710300210.1016/j.epsc.2025.103002Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case reportVincenzo Bagnara0Gaetano Magro1Agata Massimino2Salvatore Arena3Gabriela Vallejo Chamorro4Fabiola Cassaro5Paediatric Surgery Unit, Polyclinic G.B. Morgagni, Catania, ItalyDepartment of Medical and Surgical Sciences and Advanced Technologies, F. Ingrassia, University of Catania, 95123, Catania, ItalyPaediatric Surgery Unit, Polyclinic G.B. Morgagni, Catania, ItalyUnit of Paediatric Surgery, Department of Human Pathology of Adult and Childhood ''Gaetano Barresi'', University of Messina, Messina, ItalyUnit of Paediatric Surgery, Department of Human Pathology of Adult and Childhood ''Gaetano Barresi'', University of Messina, Messina, ItalyUnit of Paediatric Surgery, Department of Human Pathology of Adult and Childhood ''Gaetano Barresi'', University of Messina, Messina, Italy; Department of Biomedical and Dental Sciences and Morpho-functional Imaging, University of Messina, 98124, Messina, Italy; Corresponding author. Department of Biomedical and Dental Sciences and Morpho-functional Imaging, University of Messina, 98124, Messina, Italy.Introduction: Abdominal ultrasound (US) is frequently used in patients with Wilson disease (WD) to identify possible renal and hepatic involvement. KBG syndrome (KBGs) is a rare condition characterized by skeletal abnormalities and intellectual disability, which usually has no abdominal manifestations. Case presentation: A 12-year-old girl, affected by WD and KBGs, was referred to us due to a 51 × 34 mm cystic mass on the left ovary seen by abdominal US, initially interpreted as a left ovarian cyst. She underwent monthly follow-up US that showed a progressive increase in the size of the cyst. By the fourth month, the features had changed to a complex formation of the left ovary. Tumor markers, including CA125, AFP and BHCG, among others) were within normal limits. The patient was taken electively to the operating room for a laparoscopic resection of the suspected complex ovarian lesion. Intraoperatively we found a solid mass that connected on one side to the left parametrium and on the other side to a jejunal loop through what appeared to be a pseudo mesentery. The left ovary only had a simple cyst of approximately 3 cm in diameter. The right ovary and both Fallopian tubes were normal. We detached the mass from both connections using surgical staplers. She recovered well from the operation and was discharged home on the seventh postoperative day. The pathology analysis was consistent with an inflammatory myofibroblastic pseudotumor, and the margins were free of disease. At one year of follow-up with US and magnetic resonance imaging she has had no signs of recurrence. Conclusion: The preoperative evaluation of adnexal and pelvic masses in syndromic females should include cross-sectional imaging, as ultrasound may not provide sufficient anatomical detail.http://www.sciencedirect.com/science/article/pii/S2213576625000478KBG syndromeWilson diseaseAbdominal massOvarian cystic lesionCase |
| spellingShingle | Vincenzo Bagnara Gaetano Magro Agata Massimino Salvatore Arena Gabriela Vallejo Chamorro Fabiola Cassaro Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report Journal of Pediatric Surgery Case Reports KBG syndrome Wilson disease Abdominal mass Ovarian cystic lesion Case |
| title | Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report |
| title_full | Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report |
| title_fullStr | Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report |
| title_full_unstemmed | Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report |
| title_short | Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report |
| title_sort | pelvic inflammatory myofibroblastic tumor in a patient with wilson s disease and kbg syndrome a case report |
| topic | KBG syndrome Wilson disease Abdominal mass Ovarian cystic lesion Case |
| url | http://www.sciencedirect.com/science/article/pii/S2213576625000478 |
| work_keys_str_mv | AT vincenzobagnara pelvicinflammatorymyofibroblastictumorinapatientwithwilsonsdiseaseandkbgsyndromeacasereport AT gaetanomagro pelvicinflammatorymyofibroblastictumorinapatientwithwilsonsdiseaseandkbgsyndromeacasereport AT agatamassimino pelvicinflammatorymyofibroblastictumorinapatientwithwilsonsdiseaseandkbgsyndromeacasereport AT salvatorearena pelvicinflammatorymyofibroblastictumorinapatientwithwilsonsdiseaseandkbgsyndromeacasereport AT gabrielavallejochamorro pelvicinflammatorymyofibroblastictumorinapatientwithwilsonsdiseaseandkbgsyndromeacasereport AT fabiolacassaro pelvicinflammatorymyofibroblastictumorinapatientwithwilsonsdiseaseandkbgsyndromeacasereport |