A child with Chédiak-Higashi and trisomy 21 syndromes

This case demonstrates the clinical course of CHS in an infant who concurrently had trisomy 21 syndrome. In arriving at the diagnosis of CHS, other immunodeficient conditions must be considered and ruled out by a blood smear. The prognosis for CHS is poor, with most patients passing away in childhood. In this patient, the accelerated lymphoproliferative phase was managed effectively at first with immunosuppressive therapy, but recurred two years later. The patient was not a candidate for BMT as the incidence of complications and mortality following a BMT in patients with trisomy 21 syndrome is considerably high.