Congenital anomalies with pancytopenia: the vital role of physical examination in the diagnosis

Authors

  • Harshith Siddappaswamy Sri Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Arumugam R. Department of Pediatrics, Sri. Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Sudeep Gaddam Department of Pediatric Hematology and Oncology, Sri. Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Dhaarani Jayaraman Department of Pediatric Hematology and Oncology, Sri. Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Niranjani Maniurmila Department of Pediatrics, Sri. Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India
  • Julius Xavier Scott Department of Pediatric Hematology and Oncology, Sri. Ramachandra Institute of Higher Education and Research, Chennai, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20240354

Keywords:

Fanconi anemia, Physical examination, Pancytopenia, Bifid thumb, Hyperpigmentation

Abstract

Fanconi anemia is a rare autosomal recessive inherited disorder impacting the interstrand cross-link DNA repair pathway, leading to systemic and hematologic manifestations as well as an increased susceptibility to malignancies. Diagnosing FA involves a comprehensive approach, combining physical examinations, clinical investigations, and genetic analysis. In this report, we present the case of an 11-year-old girl with FA who exhibited notable physical characteristics such as short stature, microcephaly, hyperpigmentation, and bifid thumbs in both hands, coupled with the hematologic complication of pancytopenia. The challenge often lies in the delay of identifying physical findings, given the variable and subtle nature of these anomalies. Although genetic analysis confirms the diagnosis, the child had regular visits to pediatrician elsewhere for immunization, congenital anomalies, hyperpigmentation, short stature and received blood transfusions, this delay in recognizing physical manifestations underscores the need for heightened awareness among healthcare professionals to ensure an early diagnosis.

References

Niraj J, Färkkilä A, D’Andrea AD. The fanconi anemia pathway in cancer. Annu Rev Cancer Biol. 2019;3(1):457-78.

Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, et al. X-linked inheritance of Fanconi anemia complementation group B. Nat Genet. 2004; 36(11):1219-24.

Bagby GC. Multifunctional Fanconi proteins, inflammation and the Fanconi phenotype. Bio Med. 2016;8:10-1.

Ameziane N, May P, Haitjema A, Van De Vrugt HJ, Van Rossum-Fikkert SE, Ristic D, et al. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat Commun. 2015;6: 1-11.

Fitzgerald DA, Scott KM, Ryan MS. Blended and e-learning in pediatric education: harnessing lessons learned from the COVID-19 pandemic. Eur J Pediatr. 2022;181(2):447-52.

Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, et al. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. Eur J Med Genet. 2018;61(3):130-3.

De Kerviler E, Guermazi A, Zagdanski AM, Gluckman E, Frija J. The clinical and radiological features of Fanconi’s anaemia. Clin Radiol. 2000; 55(5):340-5.

Petryk A, Shankar RK, Giri N, Hollenberg AN, Rutter MM, Nathan B, et al. Endocrine disorders in Fanconi anemia: Recommendations for screening and treatment. J Clin Endocrinol Metab. 2015;100(3):803-11.

Krausz C, Riera-Escamilla A, Chianese C, Moreno-Mendoza D, Ars E, Rajmil O, et al. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genet Med. 2019;21(1):189-94.

Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res Fundam Mol Mech Mutagen. 2009;668(1-2):4-10.

Rosenberg PS, Alter BP, Ebell W. Cancer risks in Fanconi anemia: Findings from the German Fanconi Anemia Registry. Haematologica. 2008;93(4):511-7.

Kutler DI, Singh B, Satagopan J, Batish SD, Berwick M, Giampietro PF, et al. A 20-year perspective on the International Fanconi Anemia Registry (IFAR). Blood. 2003;101(4):1249-56.

Katzenellenbogen RA, Carter JJ, Stern JE, Butsch Kovacic MS, Mehta PA, Sauter SL, et al. Skin and mucosal human papillomavirus seroprevalence in persons with fanconi anemia. Clin Vaccine Immunol. 2015;22(4):413-20.

Lee SH, Lee WS, Whang KC, Lee SJ, Chung JB. Hyperpigmentation in megaloblastic anemia. Int J Dermatol. 1988;27(8):571-5.

Ashbaugh H, Gellman H. Congenital thumb deformities and associated syndromes. J Craniofac Surg. 2009;20(4):1039-44.

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Published

2024-02-22

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Section

Case Reports