Tetralogy of Fallot with complete agenesis of corpus callosum: A case report
Abstract
C syndrome is a rare heterogeneous malformation syndrome involving multiple organs. Coexistence of tetralogy of Fallot (TOF) and Agenesis of Corpus Callosum (ACC) rarely been reported in C syndrome patients, previously. Agenesis of corpus callosum is a rare disorder that is present at birth and is characterized by a partial or complete absence of the corpus callosum. Patients with this disorder usually present with microcephaly and a wide range of callosal anomalies from thinning to complete agenesis. It has been thought to be a very rare condition, its diagnosis may be incidental but the increased use of neuro-imaging techniques, such as MRI, is resulting in an increased rate of diagnosis. This condition may also be identified during pregnancy through an ultrasound. In this article, we report a 1-year-old infant with tetralogy of Fallot was diagnosed in fetal period and neurodevelopmental delay who was diagnosed with agenesis of corpus callosum after birth, underwent surgical TOF correction and receives maintenance neurologic treatments. The importance of this case is the accompanying neurological disorders with congenital heart diseases, especially TOF. At the time of diagnosis of TOF in fetal echocardiography, if corpus callosum agenesis is detected , parents have the possibility to decide on abortion. Although the patient’s heart disease is completely corrected, the patient’s developmental disorder can not be corrected.
2. Limperopoulos C, Majnemer A, Shevell MI, Rosenblatt B, Rohlicek C, Tchervenkov C. Neurologic status of newborns with congenital heart defects before open heart surgery. J Pediatr. 1999;103:402–408.
3. Michielon G, Marino B, Formigari R, Gargiulo G, Picchio F, Digilio MC, Anaclerio S, Oricchio G, Sanders S, Di Donato RM. Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot. Ann Thorac Surg. 2006;81:968–975.
4. Goldmuntz E, Clark BJ, Mitchell LE, Jawad AF, Cuneo BF, Reed L, McDonald-McGinn D, Chien P, Feuer J, Zackai EH, et al. Frequency of 22q11 deletions in patients with conotruncal defects. J Am Coll Cardiol. 1998;32:492–498.
5. McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E. Analysis of Cardiovascular Phenotype and Genotype-Phenotype Correlation in Individuals with a JAG1 Mutation and/or Alagille Syndrome. Circulation. 2002;106:2567–2574.
6. Goldmuntz E. THE EPIDEMIOLOGY AND GENETICS OF CONGENITAL HEART DISEASE. Clin Perinatol. 2001;28:1–10.
7. Marino BS, Lipkin P, Newburger JW, Peacock G, Gerdes M, Gaynor JW, Mussatto KA, Uzark K, Goldberg CS, Johnson JR, et al. Neurodevelopmental Outcomes in Children with Congenital Heart Disease: Evaluation and Management: A scientific statement from the american heart association. Circulation. 2012;126:1143–1172.
8. Opitz JM, Johnson RC, McCreadie SR, et al. The C syndrome of multiple congenital anomalies. Birth Defects Orig Art Series. 1969;2:161–166.
9. Shawky RM, Gamal R. C syndrome with skeletal anomalies, mental retardation, eyelid chalazion, Bitot’s spots and agenesis of the corpus callosum in an Egyptian child. Egypt J Med Hum Genet. 2017;18(1):93-7.
10. Travan et al. Journal of Medical Case Reports 2011; 5:222 http://www.jmedicalcasereports.com/content/5/1/222.
11. Antley RM, Hwang DS, Theopold W. Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet. 1981;9(2):147–63.
12. Preus M, Alexander WJ, Fraser FC. The C syndrome. Birth Defects Orig Art Series. 1975;11(2):58–62.
13. Oberklaid F, Danks DM. The Opitztrigonocephaly syndrome. A case report. Am J Dis Child. 1975;129(11):1348–1349.
14. Antley RM, Hwang DS, Theopold W, et al. Further delineation of the C (trigonocephaly) syndrome. Am J Med Genet. 1981;9(2):147–163.
15. Lalatta F, ClericiBagozzi D, Salmoiraghi MG, et al. “C” trigonocephaly syndrome: clinical variability and possibility of surgical treatment. Am J Med Genet. 1990;37(4):451–456.
16. Stratton RF, Sykes NJ, Hassler TW. C syndrome with apparently normal development. Am J Med Genet. 1990;37(4):460–462.
17. Zampino G, Di Rocco C, Butera G, et al. Opitz C trigonocephaly syndrome and midline brain anomalies. Am J Med Genet. 1997;73(4):484–488.
18. Bohring A, Silengo M, Lerone M, et al. Severe end of Opitztrigonocephaly (C) syndrome or new syndrome? Am J Med Genet. 1999;85(5):438–446.
19. Opitz JM, Putnam AR, Comstock JM, et al. Mortality and pathological findings in C (Opitztrigonocephaly) syndrome. Fetal PediatrPathol. 2006;25(4):211–231.
20. RoserUrreizti, Daniel Grinberg& Susanna Balcells. C syndrome - what do we know and what could the future hold? Expert Opinion on Orphan Drugs. 2019;7(3):91-94.
21. Shawky RM, Sadik DI. C Syndrome in an Egyptian infant with dilated brain ventricles and heterotopia. Egypt J Med Hum Genet. 2008;9(2):257-261.
22. Shawky RM, Abd-Elkhalek HS. Trigonocephaly and Dandy walker variant in an Egyptian child – probable mild Opitztrigonocephaly C syndrome. Egypt J Med Hum Genet. 2012;13(1):115-118.
23. Haaf T, Hofmann R, Schmid M. Opitztrigonocephaly syndrome. Am J Med Genet. 1991;40(4):444–446.
24. Glickstein J, Karasik J, Caride DG, Marion RW. "C" trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. Am J Med Genet. 1995;56(2):215-8.
25. Zampino G, Di Rocco C, Butera G, Balducci F, Colosimo C, Torrioli MG, et al. Opitz C trigonocephaly syndrome and midline brain anomalies. Am J Med Genet. 1997;73:484–488.
26. Glickstein J, Karasik J, Caride DG, Marion RW. “C” trigonocephaly syndrome: report of a child with agenesis of the corpus callosum and tetralogy of Fallot, and review. Am J Med Genet. 1995;56:215–218.
27. Gorlin RJ, Cohen MM Jr, Hennekam RCM. Syndromes of the head and neck (fourth ed.). New York:
| Files | ||
| Issue | Articles In Press | |
| Section | Case Report(s) | |
| Keywords | ||
| Tetralogy of Fallot; agenesis of corpus callosum; neurodevelopmental delay | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
