Case 99 – update 5

Genetic testing on both parents and her brother are carried out and are all negative. Hence this is a de novo mutation of RPL5 in our little girl.

You also carry out HLA typing on her and her brother, who turns out to be HLA identical.

She is now 16 months old and has recovered from her cleft palate repair. You decide to give her a steroid trial to see if she can become transfusion independent.


1. How do you plan to start steroids?

2. What supportive measures are necessary to minimise steroid toxicity in the short and long term?

3. When do you expect to see a steroid response and how do you proceed if she is steroid responsive?

4. How do you proceed if steroid non-responsive? What other treatment options are available other than transfusion?

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