Klippel–Trénaunay syndrome with profound abdominal lymphangiohemangioma in a three-day- old newborn: A case report and literature review

Klippel–Trénaunay syndrome with profound abdominal lymphangiohemangioma in a three-day- old newborn: A case report and literature review | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Case Report Klippel–Trénaunay syndrome with profound abdominal lymphangiohemangioma in a three-day- old newborn: A case report and literature review Shih Yang Wei, Yu Peng Liu, Dao Chen Lin, Pei Shan Tsai This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-3123551/v1 This work is licensed under a CC BY 4.0 License Status: Posted Version 1 posted You are reading this latest preprint version Abstract Background: The congenital limb-length-discrepancy disorders, such as Parkes Weber syndrome and Klippel–Trénaunay syndrome are commonly associated with a variety of vascular anomalies. Case presentation: We 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 spots on the left thigh. MRI of the abdomen showed a cyst-like lesion measuring 6.3 × 2.7 × 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. Conclusions: Early distinction between Klippel–Trénaunay syndrome and Parkes Weber syndrome was essential based on the identification of significant hemodynamic arteriovenous fistulas. The rare presence of an abdominal lymphangiohemangioma served as an important clue for early diagnosis of Klippel–Trénaunay syndrome. Klippel–Trénaunay syndrome Newborn Lateral marginal vein Vein of Servelle Lymphangiohemangioma Figures Figure 1 Figure 2 Figure 3 Background Klippel–Trénaunay syndrome (KTS) is a rare congenital disorder that is characterized by the triad of venous malformations, cutaneous capillary malformations, and limb overgrowth [ 1 ]. The incidence of KTS is very low and is estimated to be about 1:100,000 [ 1 ]. The disease has no apparent ethnic or sex predilection [ 2 , 3 ]. We present a newborn case of KTS exhibiting the classical features and a rare profound abdominal mass. Case presentation A three-day-old girl presented with an abdominal mass lesion that was noted during prenatal examination. At 26 weeks, the prenatal magnetic resonance imaging (MRI) showed a defined mass lesion in the right abdomen compressing the adjacent small bowel loops (Fig. 1a). She was born at 39 weeks via vaginal delivery and weighed 3,142 g. There was no family or parental history of inherited vascular disorders. Physical examination revealed mild hemihypertrophy of the left lower extremity and red spots on the left thigh (Fig. 2). A follow-up MRI of the abdomen was obtained after delivery, and this showed a 6.3 × 2.7 × 5.5 cm cyst-like lesion in the upper abdomen. Some possible calcified spots with high T1WI signals and low T2WI signals were also noted within the mass (Fig. 1b, 1c). A computed tomography (CT) scan of the abdomen was consistent with an ill-defined cystic tumor with small calcifications and encasement of mesenteric vessels. Capillary-lymphatic-venous abnormalities and lymphangiohemangioma were strongly suspected (Fig. 1d). An MRI of the left lower extremity revealed a tubular structure at the anterior subcutis of the left lower leg that coursed to the lateral thigh subcutis and into the ipsilateral gluteus muscle, connecting with vessels at the left pelvic sidewall. The tubular lesion displayed a signal void and homogeneous strong enhancement, compatible with a vascular malformation (Fig. 3a, 3b). A CT scan of the left lower extremity also revealed a vascular structure with no significant enhancement in the arterial phase but gradual contrast filling in the delayed phase, indicating venous rather than arteriovenous malformation. Reconstructed images revealed one engorged incompetent vessel on the lateral aspect of the left lower extremity that extended from the lower leg to the gluteal and pelvic regions. This vessel is known as the lateral marginal vein or vein of Servelle (Fig. 3c). Subcutaneous soft tissue stranding and edematous change from the left thigh to calf were also noted. A biopsy of the left thigh lesion was performed and the pathology revealed capillary–lymphatic–venous malformation. These findings of above were consistent with a diagnosis of KTS. The patient was therefore referred to a cardiovascular surgeon and a pediatric hematologist. She received oral sirolimus and compression therapy as management for KTS. After several sessions of treatment, regression of the edematous changes in the left lower extremity was observed. At the time of writing, the patient was in regular follow-up. Discussion and conclusions Klippel–Trénaunay syndrome (KTS) is a rare congenital capillary–lymphatic–venous condition characterized by the following clinical triad: capillary malformations (port-wine stains), congenital venous or veno-lymphatic malformations, and bone and/or soft-tissue hypertrophy. A phenotypic diagnosis of KTS requires the presence of only two of these three cardinal features [ 1 ]. The radiographic appearance of soft tissue, bone, and vessels can be assessed using plain films, sonograms, or CT and MRI [ 4 ]. The capillary malformation in KTS is usually red to purple in color, which is often described as a port-wine malformation. The venous or veno-lymphatic malformation is extensive and does not involve high-flow arteriovenous malformation (AVM). Liguori [ 2 ] et al. reported that 70% of KTS patients have a “vein of Servelle,” also known as a lateral marginal vein, extending from the foot or ankle to the infra-inguinal region.Both malformations typical of KTS were present in our case, who had red spots as well as the lateral marginal vein in the left lower extremity. In genetic studies, both KTS and Parkes Weber syndrome (PWS) are associated with the PI3K/AKT/mTOR signaling pathway [ 1 ]. The two syndromes have many features in common, such as cutaneous port-wine stains, asymmetrically enlarged limbs, and vascular malformations, which can lead to misdiagnosis. The critical clinical difference between these two disorders is the type of vascular malformation. PWS is associated with high-flow AVMs whereas KTS is associated with low-flow (venous and/or lymphatic) malformations [ 1 ]. Images of the present case revealed venous malformation but not AVM, further confirming the diagnosis of KTS. Hemangioma is the most common benign primary tumor of the spleen. Kocaman et al. [ 5 ] reported that splenic hemangiomatosis may occur in KTS patients, and is often asymptomatic. However, in the present case, the profound tumor was located in the mesenteric region rather than the spleen. Further, the tumor was initially detected in prenatal screening and was suspected to be lymphangiohemangioma. This early manifestation of capillary–lymphatic–venous abnormality may be another key to diagnosing KTS. In 1900, the French physicians Klippel and Trénaunay classified KTS into four levels of severity [ 3 ]. The four levels are as follows: class I, venous/phlebectasicdysplasias; class II, arterial dysplasias; class III, arterial and associated venous dysplasias; and class IV, mixed angiodysplasias. Because we observed no arterial involvement in the present case, KTS was categorized as class I (venous/phlebectasicdysplasias). According to Sikakulya et al. [ 6 ], KTS can be associated with several complications, such as deep venous thrombosis, bleeding, pulmonary embolism, stasis dermatitis, cellulitis, and limb enlargement. Although no definitive treatment for KTS has been approved, an early approach consisting of multidisciplinary management should be considered. Macrocystic lymphatic malformations can be treated with coil embolization or sclerotherapy, while microcystic malformation might be treated only with oral sirolimus or doxycycline [ 1 , 2 ]. In addition, laser therapy is used to reduce the port-wine stains. All these management approaches are primarily symptomatic treatment and prevent further complications [ 7 ]. Prognosis depends on the severity of the malformations and associated anomalies. In conclusion, we report a case of KTS (class I) in a newborn with a profound abdominal lymphangiohemangioma. She presented with the classical KTS features of capillary and venous malformations, which allowed her condition to be distinguished from PWS. Early distinction between KTS and PWS was possible based on the identification of significant hemodynamic arteriovenous fistulas, which is essential for further treatment and prognosis prediction. Additionally, she presented with a unique abdominal lymphangiohemangioma in prenatal MRI, which served as an important clue for early diagnosis of KTS. The prognosis of KTS is variable and needs to be treated with multidisciplinary management. Abbreviations AVM Arteriovenous malformation CT Computed tomography KTS Klippel–Trénaunay syndrome MRI Magnetic resonance imaging PWS Parkes Weber syndrome Declarations Ethics approval and consent to participate: The study has been approved by our Institution Review Board. (IRB number: 23MMHIS119e) Consent for publication: Written informed consent for publication from the patient’s parents was obtained. Availability of data and materials: Data sharing is not applicable to this article as no datasets were generated or analyzed during the current study, but details from the clinical records are available from the corresponding author on reasonable request. Competing interests: All authors declare that they have no competing interest. Funding: This manuscript is not funded or supported by any institute or company. Authors' contributions: SYW collected data and wrote the manuscript. YPL and DCL revised the manuscript. PST had made a substantial contribution to the concept and design of the manuscript. All the authors have read and approved the final manuscript. Acknowledgements: Not applicable. References Bertino F, Braithwaite KA, Hawkins CM, Gill AE, Briones MA, Swerdlin R, Milla SS. Congenital limb overgrowth syndromes associated with vascular anomalies. Radiographics. 2019;39(2):491–515. Liguori A, Jorgensen SA, Towbin AJ, Towbin R. Klippel–Trénaunay syndrome. Appl Radiol. 2018;47(1):35–6. Meier S. Klippel–Trénaunay Syndrome: A Case Study. Adv Neonatal Care. 2009;9(3):120–4. 10.1097/ANC.0b013e3181a68b15 . Kanterman RY, Witt PD, Hsieh PS, Picus D. Klippel–Trénaunay syndrome: imaging findings and percutaneous intervention. Am J Radiol. 1996;167:989–95. Kocaman O, Alponat A, Aygün C, Gürbüz Y, Sarisoy HT, Çelebi A, Sentürk Ö, Hülagü S. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klippel–Trénaunay syndrome: a case report and literature review. Turkish J Gastroenterol. 2009;20(1):62–6. Sikakulya FK, Egesa WI, Kiyaka SM, Anyama P. A neonate with Klippel–Trénaunay syndrome: a case report. J Med Case Rep. 2021;15:447. Alazawi S, Wright K. (2022). Klippel–Trénaunay Syndrome with atypical presentation of small port-wine stain. Cureus, 14(8), e28303. Additional Declarations No competing interests reported. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-3123551","acceptedTermsAndConditions":true,"allowDirectSubmit":true,"archivedVersions":[],"articleType":"Case Report","associatedPublications":[],"authors":[{"id":222083349,"identity":"a477a626-227e-4ca6-8e74-d91ff2ae4276","order_by":0,"name":"Shih Yang Wei","email":"","orcid":"","institution":"MacKay Memorial Hospital","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Shih","middleName":"Yang","lastName":"Wei","suffix":""},{"id":222083351,"identity":"83f9b7e0-dd65-4e8c-af11-4cc0aacef1b9","order_by":1,"name":"Yu Peng Liu","email":"","orcid":"","institution":"","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Yu","middleName":"Peng","lastName":"Liu","suffix":""},{"id":222083353,"identity":"64d5ed6e-86c1-425d-9a24-fa2633468f0f","order_by":2,"name":"Dao Chen Lin","email":"","orcid":"","institution":"Taipei Veterans General Hospital","correspondingAuthor":false,"submittingAuthor":false,"prefix":"","firstName":"Dao","middleName":"Chen","lastName":"Lin","suffix":""},{"id":222083357,"identity":"6ecbf5eb-57d7-4497-9522-113669a8385a","order_by":3,"name":"Pei Shan Tsai","email":"data:image/png;base64,iVBORw0KGgoAAAANSUhEUgAAAZAAAAAyAQMAAABI0h/eAAAABlBMVEX///8AAABVwtN+AAAACXBIWXMAAA7EAAAOxAGVKw4bAAAA3ElEQVRIiWNgGAWjYJCCAxUMEgwM7A1ApoEFkVrOgLTwHABpkSDSmjMgQiIBTBJWbS6R+/DAwTaLPPnI51c3/CiQYOBv707Aq8VyRroBUItEseHtnLKbPUCHSZw5uwGvFoMbaQyHP7ZJJG6cnZN2gweoxUAil7AWkC2JG2eeSbv5hyQt8yXYj90myhbLnmcMBw6ck0jcwJPDdlvGQIKHoF/M2dOYPxwoq0uc33782c03f2zk+Nt7CTgMRDCyARkHeMBsHrzK4VoY/jAwyDewPyCoehSMglEwCkYmAAAJsk4V7tr+CgAAAABJRU5ErkJggg==","orcid":"","institution":"MacKay Memorial Hospital","correspondingAuthor":true,"submittingAuthor":false,"prefix":"","firstName":"Pei","middleName":"Shan","lastName":"Tsai","suffix":""}],"badges":[],"createdAt":"2023-06-29 08:14:32","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-3123551/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-3123551/v1","draftVersion":[],"editorialEvents":[],"editorialNote":"","failedWorkflow":false,"files":[{"id":40897937,"identity":"be7b8981-9b87-4da3-9a1a-11c1c57815be","added_by":"auto","created_at":"2023-08-01 16:57:57","extension":"png","order_by":1,"title":"Figure 1","display":"","copyAsset":false,"role":"figure","size":367272,"visible":true,"origin":"","legend":"\u003cp\u003e(a) Prenatal MRI shows a mass lesion with a high T2WI signal in the right abdomen (arrow) compressing the adjacent small bowel loops. (b–c) Follow-up MRI reveals a nodular lesion (arrows) with hypointensity in the T2WI sequence and hyperintensity in the T1WI sequence. (d) One tiny, calcified spot (arrow) in the pre-contrast CT images.\u003c/p\u003e","description":"","filename":"1.png","url":"https://assets-eu.researchsquare.com/files/rs-3123551/v1/bad718900c0577ddb5916d7e.png"},{"id":40897938,"identity":"48361a39-c0d6-4798-90d6-01b7631b4b9f","added_by":"auto","created_at":"2023-08-01 16:57:57","extension":"png","order_by":2,"title":"Figure 2","display":"","copyAsset":false,"role":"figure","size":501285,"visible":true,"origin":"","legend":"\u003cp\u003eThe port-wine stains (capillary malformations) on the left thigh.\u003c/p\u003e","description":"","filename":"2.png","url":"https://assets-eu.researchsquare.com/files/rs-3123551/v1/7b2259f951377ad2162477de.png"},{"id":40897940,"identity":"ad1192bf-7b6a-4010-b346-4e45b55f1d6f","added_by":"auto","created_at":"2023-08-01 16:57:57","extension":"png","order_by":3,"title":"Figure 3","display":"","copyAsset":false,"role":"figure","size":252821,"visible":true,"origin":"","legend":"\u003cp\u003eAn MRI of the tubular structure at the anterior subcutis of the left thigh reveals (a) a signal void (arrows) in PDWI and (b) homogeneous strong enhancement (arrows) in the T1WI+C sequence. (c) Contrast-enhanced CT shows an engorged tubular structure (arrows) on the lateral aspect of the left lower limb that extends from the lower leg to the gluteal and pelvic regions.\u003c/p\u003e","description":"","filename":"3.png","url":"https://assets-eu.researchsquare.com/files/rs-3123551/v1/c2d778bc0222f98180c2d95b.png"},{"id":43676277,"identity":"fab9e340-d56a-43f0-a69b-e04266e941b8","added_by":"auto","created_at":"2023-09-26 06:22:31","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1217148,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-3123551/v1/43735ed0-db47-4045-a55e-0bc2673df93d.pdf"}],"financialInterests":"No competing interests reported.","formattedTitle":"Klippel–Trénaunay syndrome with profound abdominal lymphangiohemangioma in a three-day- old newborn: A case report and literature review","fulltext":[{"header":"Background","content":"\u003cp\u003eKlippel\u0026ndash;Tr\u0026eacute;naunay syndrome (KTS) is a rare congenital disorder that is characterized by the triad of venous malformations, cutaneous capillary malformations, and limb overgrowth [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. The incidence of KTS is very low and is estimated to be about 1:100,000 [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. The disease has no apparent ethnic or sex predilection [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e, \u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. We present a newborn case of KTS exhibiting the classical features and a rare profound abdominal mass.\u003c/p\u003e"},{"header":"Case presentation","content":"\u003cp\u003eA three-day-old girl presented with an abdominal mass lesion that was noted during prenatal examination. At 26 weeks, the prenatal magnetic resonance imaging (MRI) showed a defined mass lesion in the right abdomen compressing the adjacent small bowel loops (Fig.\u0026nbsp;1a). She was born at 39 weeks via vaginal delivery and weighed 3,142 g. There was no family or parental history of inherited vascular disorders. Physical examination revealed mild hemihypertrophy of the left lower extremity and red spots on the left thigh (Fig.\u0026nbsp;2).\u003c/p\u003e\n\u003cp\u003eA follow-up MRI of the abdomen was obtained after delivery,\u0026nbsp;and this showed a 6.3 × 2.7 × 5.5 cm cyst-like lesion in the upper abdomen. Some possible calcified spots with high T1WI signals and low T2WI signals were also noted within the mass (Fig. 1b, 1c). A computed tomography (CT) scan of the abdomen was consistent with an ill-defined cystic tumor with small calcifications and encasement of mesenteric vessels. Capillary-lymphatic-venous abnormalities and lymphangiohemangioma were strongly suspected (Fig. 1d).\u003c/p\u003e\n\u003cp\u003eAn MRI of the left lower\u0026nbsp;extremity\u0026nbsp;revealed a tubular structure at the anterior subcutis of the left lower leg that coursed to the lateral thigh subcutis and into the ipsilateral gluteus muscle, connecting with vessels at the left pelvic sidewall. The tubular lesion displayed a signal void and homogeneous strong enhancement, compatible with a vascular malformation (Fig. 3a, 3b).\u003c/p\u003e\n\u003cp\u003eA CT scan of the left lower\u0026nbsp;extremity also\u0026nbsp;revealed a vascular structure with\u0026nbsp;no significant enhancement in the arterial phase but gradual contrast filling in the delayed phase, indicating venous\u0026nbsp;rather than arteriovenous malformation. Reconstructed images revealed one engorged incompetent vessel on the lateral aspect of the left lower extremity that extended from the lower leg to the gluteal and pelvic regions. This vessel is known as the lateral marginal vein or vein of Servelle (Fig. 3c). Subcutaneous soft tissue stranding and edematous change from the left thigh to calf were also noted. A biopsy of the left thigh lesion was performed and the pathology revealed capillary–lymphatic–venous malformation.\u003c/p\u003e\n\u003cp\u003eThese findings of above were consistent with a diagnosis of KTS.\u003c/p\u003e\n\u003cp\u003eThe patient was therefore referred to a cardiovascular surgeon and a pediatric hematologist. She received oral sirolimus and compression therapy as management for KTS. After several sessions of treatment, regression of the edematous changes in the left lower extremity was observed. At the time of writing, the patient was in regular follow-up.\u003c/p\u003e"},{"header":"Discussion and conclusions","content":"\u003cp\u003eKlippel\u0026ndash;Tr\u0026eacute;naunay syndrome (KTS) is a rare congenital capillary\u0026ndash;lymphatic\u0026ndash;venous condition characterized by the following clinical triad: capillary malformations (port-wine stains), congenital venous or veno-lymphatic malformations, and bone and/or soft-tissue hypertrophy. A phenotypic diagnosis of KTS requires the presence of only two of these three cardinal features [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. The radiographic appearance of soft tissue, bone, and vessels can be assessed using plain films, sonograms, or CT and MRI [\u003cspan citationid=\"CR4\" class=\"CitationRef\"\u003e4\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eThe capillary malformation in KTS is usually red to purple in color, which is often described as a port-wine malformation. The venous or veno-lymphatic malformation is extensive and does not involve high-flow arteriovenous malformation (AVM). Liguori [\u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e] et al. reported that 70% of KTS patients have a \u0026ldquo;vein of Servelle,\u0026rdquo; also known as a lateral marginal vein, extending from the foot or ankle to the infra-inguinal region.Both malformations typical of KTS were present in our case, who had red spots as well as the lateral marginal vein in the left lower extremity.\u003c/p\u003e \u003cp\u003eIn genetic studies, both KTS and Parkes Weber syndrome (PWS) are associated with the PI3K/AKT/mTOR signaling pathway [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. The two syndromes have many features in common, such as cutaneous port-wine stains, asymmetrically enlarged limbs, and vascular malformations, which can lead to misdiagnosis. The critical clinical difference between these two disorders is the type of vascular malformation. PWS is associated with high-flow AVMs whereas KTS is associated with low-flow (venous and/or lymphatic) malformations [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. Images of the present case revealed venous malformation but not AVM, further confirming the diagnosis of KTS.\u003c/p\u003e \u003cp\u003eHemangioma is the most common benign primary tumor of the spleen. Kocaman et al. [\u003cspan citationid=\"CR5\" class=\"CitationRef\"\u003e5\u003c/span\u003e] reported that splenic hemangiomatosis may occur in KTS patients, and is often asymptomatic. However, in the present case, the profound tumor was located in the mesenteric region rather than the spleen. Further, the tumor was initially detected in prenatal screening and was suspected to be lymphangiohemangioma. This early manifestation of capillary\u0026ndash;lymphatic\u0026ndash;venous abnormality may be another key to diagnosing KTS.\u003c/p\u003e \u003cp\u003eIn 1900, the French physicians Klippel and Tr\u0026eacute;naunay classified KTS into four levels of severity [\u003cspan citationid=\"CR3\" class=\"CitationRef\"\u003e3\u003c/span\u003e]. The four levels are as follows: class I, venous/phlebectasicdysplasias; class II, arterial dysplasias; class III, arterial and associated venous dysplasias; and class IV, mixed angiodysplasias. Because we observed no arterial involvement in the present case, KTS was categorized as class I (venous/phlebectasicdysplasias).\u003c/p\u003e \u003cp\u003eAccording to Sikakulya et al. [\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e], KTS can be associated with several complications, such as deep venous thrombosis, bleeding, pulmonary embolism, stasis dermatitis, cellulitis, and limb enlargement. Although no definitive treatment for KTS has been approved, an early approach consisting of multidisciplinary management should be considered. Macrocystic lymphatic malformations can be treated with coil embolization or sclerotherapy, while microcystic malformation might be treated only with oral sirolimus or doxycycline [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e, \u003cspan citationid=\"CR2\" class=\"CitationRef\"\u003e2\u003c/span\u003e]. In addition, laser therapy is used to reduce the port-wine stains. All these management approaches are primarily symptomatic treatment and prevent further complications [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e]. Prognosis depends on the severity of the malformations and associated anomalies.\u003c/p\u003e \u003cp\u003eIn conclusion, we report a case of KTS (class I) in a newborn with a profound abdominal lymphangiohemangioma. She presented with the classical KTS features of capillary and venous malformations, which allowed her condition to be distinguished from PWS. Early distinction between KTS and PWS was possible based on the identification of significant hemodynamic arteriovenous fistulas, which is essential for further treatment and prognosis prediction. Additionally, she presented with a unique abdominal lymphangiohemangioma in prenatal MRI, which served as an important clue for early diagnosis of KTS. The prognosis of KTS is variable and needs to be treated with multidisciplinary management.\u003c/p\u003e"},{"header":"Abbreviations","content":"\u003cdiv class=\"DefinitionList\"\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eAVM\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eArteriovenous malformation\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eCT\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eComputed tomography\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eKTS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eKlippel\u0026ndash;Tr\u0026eacute;naunay syndrome\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003eMRI\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eMagnetic resonance imaging\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003cdiv class=\"DefinitionListEntry\"\u003e \u003cdiv class=\"Term\"\u003ePWS\u003c/div\u003e \u003cdiv class=\"Description\"\u003e \u003cp\u003eParkes Weber syndrome\u003c/p\u003e \u003c/div\u003e \u003c/div\u003e \u003c/div\u003e"},{"header":"Declarations","content":"\u003cp\u003e\u003cstrong\u003eEthics approval and consent to participate:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThe study has been approved by our Institution Review Board. (IRB number: 23MMHIS119e)\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eConsent for publication:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eWritten informed consent for publication from the patient’s parents was obtained.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAvailability of data and materials:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eData sharing is not applicable to this article as no datasets were generated\u003c/p\u003e\n\u003cp\u003eor analyzed during the current study, but details from the clinical records are\u003c/p\u003e\n\u003cp\u003eavailable from the corresponding author on reasonable request.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eCompeting interests:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eAll authors declare that they have no competing interest.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eFunding:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eThis manuscript is not funded or supported by any institute or company.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAuthors' contributions:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eSYW collected data and wrote the manuscript. YPL\u0026nbsp;and DCL revised the manuscript. PST had made a substantial contribution to the concept and design of the manuscript. All the authors have read and approved the final manuscript.\u003c/p\u003e\n\u003cp\u003e\u003cstrong\u003eAcknowledgements:\u003c/strong\u003e\u003c/p\u003e\n\u003cp\u003eNot applicable.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\n \u003cli\u003e\u003cspan\u003eBertino F, Braithwaite KA, Hawkins CM, Gill AE, Briones MA, Swerdlin R, Milla SS. Congenital limb overgrowth syndromes associated with vascular anomalies. Radiographics. 2019;39(2):491\u0026ndash;515.\u003c/span\u003e\u003c/li\u003e\n \u003cli\u003e\u003cspan\u003eLiguori A, Jorgensen SA, Towbin AJ, Towbin R. Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome. Appl Radiol. 2018;47(1):35\u0026ndash;6.\u003c/span\u003e\u003c/li\u003e\n \u003cli\u003e\u003cspan\u003eMeier S. Klippel\u0026ndash;Tr\u0026eacute;naunay Syndrome: A Case Study. Adv Neonatal Care. 2009;9(3):120\u0026ndash;4. \u003cspan class=\"ExternalRef\"\u003e\u003cspan class=\"RefSource\"\u003e10.1097/ANC.0b013e3181a68b15\u003c/span\u003e\u003c/span\u003e.\u003c/span\u003e\u003c/li\u003e\n \u003cli\u003e\u003cspan\u003eKanterman RY, Witt PD, Hsieh PS, Picus D. Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome: imaging findings and percutaneous intervention. Am J Radiol. 1996;167:989\u0026ndash;95.\u003c/span\u003e\u003c/li\u003e\n \u003cli\u003e\u003cspan\u003eKocaman O, Alponat A, Ayg\u0026uuml;n C, G\u0026uuml;rb\u0026uuml;z Y, Sarisoy HT, \u0026Ccedil;elebi A, Sent\u0026uuml;rk \u0026Ouml;, H\u0026uuml;lag\u0026uuml; S. Lower gastrointestinal bleeding, hematuria and splenic hemangiomas in Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome: a case report and literature review. Turkish J Gastroenterol. 2009;20(1):62\u0026ndash;6.\u003c/span\u003e\u003c/li\u003e\n \u003cli\u003e\u003cspan\u003eSikakulya FK, Egesa WI, Kiyaka SM, Anyama P. A neonate with Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome: a case report. J Med Case Rep. 2021;15:447.\u003c/span\u003e\u003c/li\u003e\n \u003cli\u003e\u003cspan\u003eAlazawi S, Wright K. (2022). Klippel\u0026ndash;Tr\u0026eacute;naunay Syndrome with atypical presentation of small port-wine stain. Cureus, 14(8), e28303.\u003c/span\u003e\u003c/li\u003e\n\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":true,"highlight":"","institution":"","isAcceptedByJournal":false,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true},"keywords":"Klippel–Trénaunay syndrome, Newborn, Lateral marginal vein, Vein of Servelle, Lymphangiohemangioma","lastPublishedDoi":"10.21203/rs.3.rs-3123551/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-3123551/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003e\u003cb\u003eBackground:\u003c/b\u003e\u003c/p\u003e \u003cp\u003eThe congenital limb-length-discrepancy disorders, such as Parkes Weber syndrome and Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome are commonly associated with a variety of vascular anomalies.\u003c/p\u003e\u003cp\u003e\u003cb\u003eCase presentation:\u003c/b\u003e\u003c/p\u003e \u003cp\u003eWe 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 spots on the left thigh. MRI of the abdomen showed a cyst-like lesion measuring 6.3 \u0026times; 2.7 \u0026times; 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\u0026ndash;Tr\u0026eacute;naunay syndrome, including port-wine stains, a profound abdominal mass, and vascular malformations of the left lower extremity.\u003c/p\u003e\u003cp\u003e\u003cb\u003eConclusions:\u003c/b\u003e\u003c/p\u003e \u003cp\u003eEarly distinction between Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome and Parkes Weber syndrome was essential based on the identification of significant hemodynamic arteriovenous fistulas. The rare presence of an abdominal lymphangiohemangioma served as an important clue for early diagnosis of Klippel\u0026ndash;Tr\u0026eacute;naunay syndrome.\u003c/p\u003e","manuscriptTitle":"Klippel–Trénaunay syndrome with profound abdominal lymphangiohemangioma in a three-day- old newborn: A case report and literature review","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2023-08-01 16:57:52","doi":"10.21203/rs.3.rs-3123551/v1","editorialEvents":[{"type":"communityComments","content":0}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"researchsquare","isNatureJournal":false,"hasQc":true,"allowDirectSubmit":true,"externalIdentity":"","sideBox":"","snPcode":"","submissionUrl":"/submission","title":"Research Square","twitterHandle":"researchsquare","acdcEnabled":true,"dfaEnabled":false,"editorialSystem":"","reportingPortfolio":"","inReviewEnabled":false,"inReviewRevisionsEnabled":true}}],"origin":"","ownerIdentity":"47d93bd5-f25a-420a-9d97-f9df82653a89","owner":[],"postedDate":"August 1st, 2023","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"posted","subjectAreas":[],"tags":[],"updatedAt":"2023-09-26T06:14:24+00:00","versionOfRecord":[],"versionCreatedAt":"2023-08-01 16:57:52","video":"","vorDoi":"","vorDoiUrl":"","workflowStages":[]},"version":"v1","identity":"rs-3123551","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-3123551","identity":"rs-3123551","version":["v1"]},"buildId":"WrCJVZZCHTDjtuVLN7oU0","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}