OJGen  Vol.11 No.1 , March 2021
Warkany Syndrome Revealed by Recurrent Infections: Case Report
Abstract: Introduction: Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genetic abnormality characterized by a large phenotypic variability. This heterogeneity leads to delayed diagnosis in the majority of cases. Frequently, development retardation is the first apparent anomaly that imposes genetic study, and hence diagnosis is done. In other situations, the revealing presentation is atypical. Aims: Report a case of T8M in a child followed up for recurrent respiratory infections and insists on the global assessment of patients. Case Description: The patient, aged six years old, has been followed up since his first year for recurrent infections. At birth, the medical assessment was normal apart from bilateral testis ectopia and hypospadias. By the age of nine months, he presented several respiratory infections associated with wheezing thereafter. Immunity investigations were normal and skin tests were positive for dog hair. By allergen eviction and asthma therapeutics, the infant improved. During his follow-up, development retardation has been noted in addition to facial dysmorphism and limb extremities aberrations. Imaging investigations showed the agenesis of both the corpus callosum and the right kidney. Karyotyping on peripheral leucocytes and fibroblast culture revealed T8M in 6% and 87% of examined cells respectively. Conclusion: In the present case, the patient’s complaint is related to allergy. However, a global assessment of the child led to a rare condition requiring more care and careful follow-up.
Cite this paper: Rezgani, K. and Abdelkarim, R. (2021) Warkany Syndrome Revealed by Recurrent Infections: Case Report. Open Journal of Genetics, 11, 1-8. doi: 10.4236/ojgen.2021.111001.

[1]   Wiœniewska, M. and Mazurek, M. (2002) Trisomy 8 Mosaicism Syndrome. Journal of Applied Genetics, 43, 115-118.

[2]   Fineman, R.M., Ablow, R.C., Howard, R.O., Albright, J. and Breg, W.R. (1975) Trisomy 8 Mosaicism Syndrome. Pediatrics, 56, 762-767.

[3]   Agrawal, A. and Agrawal, R. (2011) Warkany Syndrome: A Rare Case Report. Case Reports in Pediatrics, 2011, Article ID: 437101.

[4]   Hale, N.E. and Keane, J.F. (2010) Piecing Together a Picture of Trisomy 8 Mosaicism Syndrome. The Journal of the American Osteopathic Association, 110, 21-23.

[5]   Udayakumar, A.M. and Al-Kindy, A. (2013) Constitutional Trisomy 8 Mosaicism Syndrome: Case Report and Review. Journal of Pediatric Genetics, 2, 197-201.

[6]   Giraldo, G., Gómez, A.M., Mora, L., Suarez-Obando, F. and Moreno, O. (2016) Mosaic Trisomy 8 Detected by Fibroblasts Cultured of Skin. Colombia Médica, 47, 100-104.

[7]   Datta, A., Picker, J. and Rotenberg, A. (2010) Trisomy 8 Mosaicism and Favorable Outcome after Treatment of Infantile Spasms: Case Report. Journal of Child Neurology, 25, 1275-1277.

[8]   Engel, B.C., Podsakoff, G.M., Ireland, J.L., Smogorzewska, E.M., Carbonaro, D.A., Wilson, K., et al. (2007) Prolonged Pancytopenia in a Gene Therapy Patient with ADA-Deficient SCID and Trisomy 8 Mosaicism: A Case Report. Blood, 109, 503-506.

[9]   Maserati, E., Aprili, F., Vinante, F., Locatelli, F., Amendola, G., Zatterale, A., et al. (2002) Trisomy 8 in Myelodysplasia and Acute Leukemia is Constitutional in 15 - 20% of Cases. Genes Chromosomes Cancer, 33, 93-97.

[10]   van Haelst, M.M., Van Opstal, D., Lindhout, D. and Los, F.J. (2001) Management of Prenatally Detected Trisomy 8 Mosaicism. Prenatal Diagnosis, 21, 1075-1078.

[11]   Cassina, M., Calò, A., Salviati, L., Alghisi, A., Montaldi, A. and Clementi, M. (2018) Prenatal Detection of Trisomy 8 Mosaicism: Pregnancy Outcome and Follow up of a Series of 17 Consecutive Cases. European Journal of Obstetrics & Gynecology and Reproductive Biology, 221, 23-27.