SB Cheng, PPW Lee, TL Ku, CH Li

Abstract

ELANE-related severe congenital neutropenia is a very rare genetic disorder characterised by very low absolute neutrophil count at early age. Affected individuals suffer from recurrent infections and have potential of malignant transformation. This paper describes a case report of a Chinese girl who had severe neutropenia since neonatal age with recurrent perianal and oral infection. Clinical features, diagnosis and management of ELANE-related severe congenital neutropenia are discussed. Clinicians are alerted how to differentiate severe congenital neutropenia from usually benign chronic neutropenia.