Fanconi Anaemia – A Rare Case Report

Authors

  • Md Abdul Aziz
  • Mesba Uddin Chowdhury
  • Rafiquzzaman Khan
  • Md Salauddin Shah
  • Shafiqul Islam

DOI:

https://doi.org/10.3329/bmrcb.v42i3.32228

Keywords:

Fanconi anaemia, Café au lait spot, chromosomal breakage study

Abstract

Fanconi anaemia is a rare and most common form of inherited aplastic anaemia. It is mostly autosmal (except one x link) recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both haematological malignancy and solid tumours. Congenital malformation varies from patient to patient and may affect the skeletal system as well as organ systems. Highly variable phenotypic  presentation with clinical menifestations makes difficult for diagnosis in some cases. Chromosomal breakage study induce by Mitomycin-C (MMC)/Diepoxybutane(DEB) provide a unique cellular marker for the diagnosis.The incidence of FA is approximately 1 to 5 per million. In Bangladesh, so far no study or even any case was reported. In this case report, a two years nine months old male child presented with generalized weakness , recurrent episodes of fever and physical deformities. It was found him short stature, microcephaly, trianguler face,generalized hyperpigmentation with café au lait spots,absent both thumbs with flexor deformity of both wrists. Peripheral smear found bicytopenia, bone marrow aspiration and biopsy showed hypoplastic marrow mildly elevated LDH, X-ray and USG showed bone and organ agenesis and chromosomal breakage study is also positive.

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Published

2017-04-18

How to Cite

Aziz, M. A., Chowdhury, M. U., Khan, R., Shah, M. S., & Islam, S. (2017). Fanconi Anaemia – A Rare Case Report. Bangladesh Medical Research Council Bulletin, 42(3), 147–149. https://doi.org/10.3329/bmrcb.v42i3.32228

Issue

Section

Research Papers