Article Text
Summary
Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5–6 years. We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which turned to be Chédiak-Higashi syndrome with a novel variant, not previously described in the literature, which is caused by mutations in the CHS1 gene.This case is reported for its novel mutation, and the absence of the accelerated phase until now. Awareness, early recognition and management of this condition may prevent the preterm morbidity associated with this case.
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Footnotes
Contributors MS designed and wrote the manuscript, provided the pictures, and was involved in the management of the child. BY helped in the writing of the manuscript, and was involved in the management of the child. MMH supervised the management of the child and revised the manuscript. DE provided the pictures and revised the manuscript and was involved in the diagnosis of the child.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.