Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review
BackgroundKlippel–Trénaunay syndrome, a kind of congenital limb-length-discrepancy disorder, is commonly associated with a variety of vascular anomalies.Case presentationWe present the case of a three-day-old newborn with a profound abdominal mass lesion during prenatal magnetic resonance imaging (M...
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| Format: | Article |
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Frontiers Media S.A.
2024-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1326909/full |
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| author | Shih Yang Wei Yu Peng Liu Dao Chen Lin Dao Chen Lin Dao Chen Lin Pei Shan Tsai Pei Shan Tsai Pei Shan Tsai |
| author_facet | Shih Yang Wei Yu Peng Liu Dao Chen Lin Dao Chen Lin Dao Chen Lin Pei Shan Tsai Pei Shan Tsai Pei Shan Tsai |
| author_sort | Shih Yang Wei |
| collection | DOAJ |
| description | BackgroundKlippel–Trénaunay syndrome, a kind of congenital limb-length-discrepancy disorder, is commonly associated with a variety of vascular anomalies.Case presentationWe present the case of a three-day-old newborn with a profound abdominal mass lesion during prenatal magnetic resonance imaging (MRI) examination. After delivery, physical examination revealed mild hemihypertrophy of the left lower extremity and red lesions on the left thigh. MRI of the abdomen showed a cyst-like lesion measuring 6.3 cm × 2.7 cm × 5.5 cm in the upper abdomen. Within the mass, there were also some possible calcified spots exhibiting high T1WI signals and low T2WI signals. A computed tomography (CT) scan of the abdomen was consistent with an ill-defined cystic tumor with small calcifications and encasement of mesenteric vessels. A MRI of the left lower extremity showed a tubular structure with a signal void and homogeneous strong enhancement located in the anterior subcutis of the left lower limb. The CT scan confirmed that the tubular structure was consistent with a venous malformation. This patient had features of Klippel–Trénaunay syndrome, including port-wine stains, a profound abdominal mass, and vascular malformations of the left lower extremity.ConclusionsIn this article, we presented a case of Klippel–Trénaunay syndrome, emphasizing both prenatal and confirmatory postnatal cross-sectional imaging findings. The rare presentation of an abdominal lymphatic-venous formation played a pivotal role as a crucial indicator for an early diagnosis of Klippel–Trénaunay syndrome. |
| first_indexed | 2024-03-08T13:03:15Z |
| format | Article |
| id | doaj.art-69642dc4d5384694ac6ad426933732b7 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-08T13:03:15Z |
| publishDate | 2024-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-69642dc4d5384694ac6ad426933732b72024-01-19T04:36:00ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-01-011210.3389/fped.2024.13269091326909Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature reviewShih Yang Wei0Yu Peng Liu1Dao Chen Lin2Dao Chen Lin3Dao Chen Lin4Pei Shan Tsai5Pei Shan Tsai6Pei Shan Tsai7Department of Radiology, MacKay Memorial Hospital, Taipei City, TaiwanDepartment of Radiology, Mackay Memorial Hospital, Hsinchu Branch, Hsinchu City, TaiwanDepartment of Radiology, Taipei Veterans General Hospital, Taipei City, TaiwanDivision of Endocrine and Metabolism, Department of Medicine, Taipei Veterans General Hospital, Taipei City, TaiwanSchool of Medicine, National Yang Ming Chiao Tung University, Taipei City, TaiwanDepartment of Radiology, MacKay Memorial Hospital, Taipei City, TaiwanDepartment of Medicine, Mackay Medical College, New Taipei City, TaiwanMackay Junior College of Medicine, Nursing and Management, New Taipei City, TaiwanBackgroundKlippel–Trénaunay syndrome, a kind of congenital limb-length-discrepancy disorder, is commonly associated with a variety of vascular anomalies.Case presentationWe present the case of a three-day-old newborn with a profound abdominal mass lesion during prenatal magnetic resonance imaging (MRI) examination. After delivery, physical examination revealed mild hemihypertrophy of the left lower extremity and red lesions on the left thigh. MRI of the abdomen showed a cyst-like lesion measuring 6.3 cm × 2.7 cm × 5.5 cm in the upper abdomen. Within the mass, there were also some possible calcified spots exhibiting high T1WI signals and low T2WI signals. A computed tomography (CT) scan of the abdomen was consistent with an ill-defined cystic tumor with small calcifications and encasement of mesenteric vessels. A MRI of the left lower extremity showed a tubular structure with a signal void and homogeneous strong enhancement located in the anterior subcutis of the left lower limb. The CT scan confirmed that the tubular structure was consistent with a venous malformation. This patient had features of Klippel–Trénaunay syndrome, including port-wine stains, a profound abdominal mass, and vascular malformations of the left lower extremity.ConclusionsIn this article, we presented a case of Klippel–Trénaunay syndrome, emphasizing both prenatal and confirmatory postnatal cross-sectional imaging findings. The rare presentation of an abdominal lymphatic-venous formation played a pivotal role as a crucial indicator for an early diagnosis of Klippel–Trénaunay syndrome.https://www.frontiersin.org/articles/10.3389/fped.2024.1326909/fullKlippel–Trénaunay syndromenewbornlateral marginal veinvein of Servellelymphatic-venous malformation |
| spellingShingle | Shih Yang Wei Yu Peng Liu Dao Chen Lin Dao Chen Lin Dao Chen Lin Pei Shan Tsai Pei Shan Tsai Pei Shan Tsai Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review Frontiers in Pediatrics Klippel–Trénaunay syndrome newborn lateral marginal vein vein of Servelle lymphatic-venous malformation |
| title | Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review |
| title_full | Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review |
| title_fullStr | Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review |
| title_full_unstemmed | Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review |
| title_short | Klippel–Trénaunay syndrome with profound abdominal lymphatic-venous malformation in a three-day-old newborn: a case report and literature review |
| title_sort | klippel trenaunay syndrome with profound abdominal lymphatic venous malformation in a three day old newborn a case report and literature review |
| topic | Klippel–Trénaunay syndrome newborn lateral marginal vein vein of Servelle lymphatic-venous malformation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1326909/full |
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