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| Natura: | Recurso digital |
| Lingua: | inglese |
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Zenodo
2026
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| Accesso online: | https://doi.org/10.5281/zenodo.18509124 |
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| _version_ | 1866901948095004672 |
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| author | Joshi, Umesh |
| author_facet | Joshi, Umesh |
| contents | <div> <p><span><span>Background: </span></span><span><span>CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/Skeletal abnormalities) is an ultra-rare congenital overgrowth disorder belonging to the PIK3CA-related overgrowth spectrum (PROS). With fewer than 200 comprehensively documented cases worldwide and an estimated incidence of less than 1 per 1,000,000, reports from the Indian subcontinent remain exceedingly scarce. Early recognition is paramount to prevent irreversible neurological sequelae and life-threatening thromboembolic complications.</span></span><span> </span></p> </div> <div> <p><span lang="EN-US"><span>Case Presentation: </span></span><span lang="EN-US"><span>We report an 8-month-old male infant who presented with progressive right-sided asymmetric overgrowth, right pinna enlargement, and right-sided truncal and gluteal hypertrophy. Whole-body magnetic resonance imaging revealed extensive retroperitoneal, pelvic, paraspinal, and subcutaneous lipomatosis; epidural lipomatosis in the lumbo-sacral spine with severe thecal sac compression demonstrating the pathognomonic “Y-sign”; right renal hypertrophy with lobulated surface; asymmetric muscular hypertrophy of the right gluteal and thigh regions; and posterior sacral element defects with continuity of intraspinal and paraspinal fat. Brain imaging </span><span>demonstrated</span><span> mild paucity of white matter in the posterior centrum </span><span>semiovale</span><span> with supratentorial atrophic changes. The radiological impression initially </span><span>favoured</span><span> Proteus syndrome; however, </span><span>clinico</span><span>-radiological correlation </span><span>established</span><span> a diagnosis of CLOVES syndrome, and PIK3CA gene mutation analysis was recommended for molecular confirmation.</span></span><span> </span></p> </div> <div> <p><span lang="EN-US"><span>Conclusion: </span></span><span lang="EN-US"><span>This case underscores the diagnostic challenge of differentiating CLOVES from Proteus syndrome and highlights the critical importance of congenital onset, truncal lipomatous distribution, and the characteristic spinal epidural lipomatosis with Y-sign in </span><span>establishing</span><span> the correct diagnosis. We present a comprehensive review of the existing literature on CLOVES syndrome, </span><span>emphasising</span><span> current understanding of its molecular pathogenesis, thromboembolic risk profile, and the </span><span>paradigm shift</span><span> toward targeted PI3Kα inhibitor therapy. This report adds to the sparse literature from the Indian subcontinent and advocates for multidisciplinary surveillance in affected children.</span></span></p> </div> |
| format | Recurso digital |
| id | zenodo_https___doi_org_10_5281_zenodo_18509124 |
| institution | Zenodo |
| language | eng |
| publishDate | 2026 |
| publisher | Zenodo |
| record_format | zenodo |
| spellingShingle | CLOVES Syndrome in an Indian Infant: A Comprehensive Case Report with Radiological Correlation and Review of the PIK3CA-Related Overgrowth Spectrum Joshi, Umesh Rare Diseases/genetics Rare Diseases Proteus Syndrome CLOVES Overgrowth syndromes Pediatrics Paediatrics <div> <p><span><span>Background: </span></span><span><span>CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/Skeletal abnormalities) is an ultra-rare congenital overgrowth disorder belonging to the PIK3CA-related overgrowth spectrum (PROS). With fewer than 200 comprehensively documented cases worldwide and an estimated incidence of less than 1 per 1,000,000, reports from the Indian subcontinent remain exceedingly scarce. Early recognition is paramount to prevent irreversible neurological sequelae and life-threatening thromboembolic complications.</span></span><span> </span></p> </div> <div> <p><span lang="EN-US"><span>Case Presentation: </span></span><span lang="EN-US"><span>We report an 8-month-old male infant who presented with progressive right-sided asymmetric overgrowth, right pinna enlargement, and right-sided truncal and gluteal hypertrophy. Whole-body magnetic resonance imaging revealed extensive retroperitoneal, pelvic, paraspinal, and subcutaneous lipomatosis; epidural lipomatosis in the lumbo-sacral spine with severe thecal sac compression demonstrating the pathognomonic “Y-sign”; right renal hypertrophy with lobulated surface; asymmetric muscular hypertrophy of the right gluteal and thigh regions; and posterior sacral element defects with continuity of intraspinal and paraspinal fat. Brain imaging </span><span>demonstrated</span><span> mild paucity of white matter in the posterior centrum </span><span>semiovale</span><span> with supratentorial atrophic changes. The radiological impression initially </span><span>favoured</span><span> Proteus syndrome; however, </span><span>clinico</span><span>-radiological correlation </span><span>established</span><span> a diagnosis of CLOVES syndrome, and PIK3CA gene mutation analysis was recommended for molecular confirmation.</span></span><span> </span></p> </div> <div> <p><span lang="EN-US"><span>Conclusion: </span></span><span lang="EN-US"><span>This case underscores the diagnostic challenge of differentiating CLOVES from Proteus syndrome and highlights the critical importance of congenital onset, truncal lipomatous distribution, and the characteristic spinal epidural lipomatosis with Y-sign in </span><span>establishing</span><span> the correct diagnosis. We present a comprehensive review of the existing literature on CLOVES syndrome, </span><span>emphasising</span><span> current understanding of its molecular pathogenesis, thromboembolic risk profile, and the </span><span>paradigm shift</span><span> toward targeted PI3Kα inhibitor therapy. This report adds to the sparse literature from the Indian subcontinent and advocates for multidisciplinary surveillance in affected children.</span></span></p> </div> |
| title | CLOVES Syndrome in an Indian Infant: A Comprehensive Case Report with Radiological Correlation and Review of the PIK3CA-Related Overgrowth Spectrum |
| topic | Rare Diseases/genetics Rare Diseases Proteus Syndrome CLOVES Overgrowth syndromes Pediatrics Paediatrics |
| url | https://doi.org/10.5281/zenodo.18509124 |