Down Syndrome with truncus solitarius, cardiomegaly and severe anaemia

The girl admitted for severe pallor. She was a 7 year old girl with poor socioeconomic background. She had clinical features suggestive of Down Syndrome with facial dysmorphism, hypotonia, developmental delay and low IQ.

On examination, she was found to be severely anaemic. No clue could be identified for such a degree of anaemia. Possibility of malaria, leukemia, thalassemia were excluded clinically and by blood examinations.

There was cardiomegaly but no murmer. On Xray , lung field was translucent and there was no sign of pulmonary oedema.

Echocardiographist identified ‘truncus solitarius’ and pericardial effusion.

For pericardial effusion, we are searching for cause, tuberculosis is a possibility.

Bdoza