International Journal of Research and Reports in Hematology

Congestive Cardiac Failure in a Case of Fanconi Anaemia: Usual Presentation in a Rare Disease

Sanket Bhadra *

Department of Paediatric, VCSGGIMS & R, Srinagar, Garhwal, India.

Archita Jain

Department of Paediatric, VCSGGIMS & R, Srinagar, Garhwal, India.

Jitendra Joshi Jr.

Department of Paediatric, VCSGGIMS & R, Srinagar, Garhwal, India.

Vyas K. Rathaur

Department of Paediatric, VCSGGIMS & R, Srinagar, Garhwal, India.

*Author to whom correspondence should be addressed.

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Abstract

The present study highlights an usual case of congestive cardiac failure. Cardiovascular, gastrointestinal or renal anomalies can also occur. FA “facies” microcephaly, small eyes, epicanthal folds, abnormal ears. A 11 year old male presented in emergency with complain of generalized weakness and loss of apetite from 10 days, fever and cough from 5 days, vomiting(3-4 episodes/day) from 3 days. He had a history of similar episode and blood transfusion 2 months back. In our case patient presented in shock with CHF. He had severe anemia with hypoplastic thumb with short stature underdeveloped penis and abnormal pigmentation.

Keywords: Pancytopenia, hypoplastic thumb, depigmentation, short stature, congestive cardiac failure.

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