Table of Contents

HK J Paediatr (New Series)
Vol 26. No. 4, 2021

HK J Paediatr (New Series) 2021;26:240-244

Case Report

A Chinese Girl with ELANE-related Severe Congenital Neutropenia

SB Cheng, PPW Lee, TL Ku, CH Li


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.

Keyword : Children; Congenital neutropenia; ELANE-related neutropenia; Neutropenia


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