Martínez-Sebastián A

Language: Spanish
References: 8
Page: 71-74
PDF size: 204.23 Kb.

ABSTRACT

Introduction: Situs inversus totalis is characterized by the inverted position of the thoracic and abdominal organs with respect to the sagittal plane. In general, the diagnosis is made incidentally, given the absence of symptoms. Situs inversus totalis can be associated with cardiac, digestive, kidney, and respiratory malformations, but the most common is primary ciliary dyskinesia. Clinical case: 10-year-old male patient diagnosed with situs inversus totalis who came to the emergency room for cough, chest pain, respiratory distress and fever. Recurrence of pneumonia in the left lower lobe was identified on a third occasion, which raised suspicion of Kartagener syndrome (a form of primary ciliary dyskinesia), which was ruled out because the patient did not present bronchiectasis or chronic sinusitis. Conclusions: Situs inversus totalis can be associated with multiple conditions, including upper and lower respiratory disorders, as a consequence of primary ciliary dyskinesia, such as Kartagener syndrome.

REFERENCES

1. Juncos M, Ros MA, Maravall M, Álvarez-Pitti J. Situs inversus totalis. A propósito de 2 casos clínicos. Rev Chil Pediatr. 2014; 85(3): 344-350.

2. Postema MC, Carrion-Castillo A, Fisher SE, Vingerhoets G, Francks C. The genetics of situs inversus without primary ciliary dyskinesia. Sci Rep. 2020; 10(1): 3677.

3. Li AH, Hanchard NA, Azamian M, D'Alessandro LCA, Coban-Akdemir Z, Lopez KN et al. Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019; 27(4): 563-573.

4. Montaner AE, Carceller MA. Discinesia ciliar primaria. An Pediatr Contin. 2013; 11(1): 38-45.

5. Aljure Reales VJ, Álvarez Gallego GC, Ávila Espitia NC, Arrieta Coley A, Ángel Suárez OG. Situs inversus totalis: revisión de tema con aproximación a la genética y reporte de casos. Rev Colomb Cardiol. 2017; 24(1): 40-47.

6. Chen W, Guo Z, Qian L, Wang L. Comorbidities in situs inversus totalis: a hospital-based study. Birth Defects Res. 2020; 112(5): 418-426.

7. Serapinas D, Staikunien J, Barkauskiene D, Jackute J, Sakalauskas R. Una regresión poco común de los síntomas de un síndrome de Kartagener. Arch Bronconeumol. 2013; 49(1): 28-30.

8. Armengot Carcellera M, Carda Batallab C, Escribanoc A, Samperd GJ. Estudio del transporte mucociliar y de la ultraestructura ciliar nasales en pacientes con síndrome de Kartagener. Arch Bronconeumol. 2005; 41(1): 11-15.