An Incidental Situs Inversus Totalis in a Pediatric Case of Granulomatous Panuveitis: A Case Report

Background

Situs inversus totalis (SIT) is a rare congenital condition, affecting 1 in 20000 births, in which the thoracic and abdominal organs are transposed in mirror image following disruption of left-right embryonic signaling. Most affected individuals are asymptomatic and identified incidentally, yet the reversed anatomy can mislead clinical interpretation in acute and surgical settings, and up to 20% harbor primary ciliary dyskinesia (PKD). Reports emphasize surgical and systemic implications, ocular presentations remain scarcely documented. We describe a pediatric case in which SIT was recognized during systemic workup of granulomatous panuveitis.

Case Presentation

A 7-year-old girl from central Honduras presented with decreased visual acuity in the right eye. Slit-lamp examination showed conjunctival hyperemia, 360-degree corneal neovascularization, a shallow anterior chamber, retrokeratic pigment deposits, 360-degree posterior synechiae, iris atrophy and uveitic cataract; the left eye was unremarkable. Ocular ultrasonography showed vitreous membrane formation with an attached retina and contrast-enhanced brain MRI was normal. Immunoglobulins, ANA, ANCA, MPO, and PR3 were within reference ranges; Mantoux and serology for toxoplasmosis, syphilis and cytomelagovirus were non-ractive; HSV-1 IgG was markedly elevated. Chronic granulomatous panuveitis of presumed herpetic origin was diagnosed, topical therapy was started, and she was referred for systemic evaluation.

Findings

Growth and vital signs were normal, with no recurrent respiratory or cutaneous infections. The apex beat was visible in the right fifth intercostal space with louder right sided heart sounds and a systolic murmur; hepatic dullness was percussed on the left. Electrocardiography showed right axis deviation, inverted P waves in I and aVL and positive P waves in aVR. Chest radiography demonstrated dextrocardia with a right-sided aortic knuckle; abdominal radiography showed a left hepatic shadow and a right gastric bubble; abdominal ultrasonography confirmed mirror-image transposition of the viscera. Echocardiography excluded structural cardiac defects. SIT was confirmed and the family counseled. At follow-up. ocular discomfort had improved while visual acuity remained markedly reduced and treatment was maintained pending assessment of inflammatory control and surgical candidacy.

Discussion and Conclusion

Tuberculosis, sarcoidosis, toxoplasmosis, syphilis, cytomegalovirys, juveline idiopathic arthritis, Behcet disease, Vogt-Koyagi-Harada syndrome and uveitis associated with inflammatory bowel disease were considered and judged unlikely on clinical and laboratory grounds; granulomatous features with markedly elevated HSV-1 IgG supported a herpetic etiology despite the absence of PCR confirmation. SIT appeared incidental, with no clinical features of PCD, making a pathophysiological link improbable. The case nonetheless carries two practical lessons: atypical pediatric ocular inflammation merits systematic multidisciplinary evaluation, which may uncover unsuspected anatomical anomalies; and recognition of SIT should prompt consideration of PCD and prevent diagnostic error in future emergency or surgical care. Limitations include the single-case design and the lack of molecular confirmation of both viral etiology and ciliary function. Reporting this rare coexistence expands the limited pediatric literature.