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Severe congenital neutropaenia with ELANE mutation: a case report

Authors:

Tharindi Suriapperuma ,

Lady Ridgeway Hospital for Children, Colombo, LK
About Tharindi
Department of Paediatrics, Faculty of Medicine, University of Kelaniya
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Nura Hewage,

Lady Ridgeway Hospital for Children, Colombo, LK
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Charith Udagedara,

Lady Ridgeway Hospital for Children, Colombo, LK
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Nilanka Thennakoon,

Lady Ridgeway Hospital for Children, Colombo, LK
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Nipunika Senadheera,

Lady Ridgeway Hospital for Children, Colombo, LK
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Chandima Thewarapperuma,

Lady Ridgeway Hospital for Children, Colombo, LK
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Kumudu Weerasekara

Lady Ridgeway Hospital for Children, Colombo, LK
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Abstract

Congenital neutropaenia can be broadly divided into two subtypes: Severe congenital neutropenia (SCN) and cyclical neutropaenia. SCN is a rare genetically heterogeneous disease. This three-month-old baby girl presented with prolonged febrile illness and found chronic severe neutropenia. Cyclical neutropaenia was excluded by doing serial full blood counts. Bone marrow examination revealed reversal of erythroid to myeloid ratio with suppressed granulopoiesis. Here we report a genetically diagnosed infant with SCN due to ELANE mutation in Sri Lanka using clinical exome sequencing and we highlight the usefulness of giving priority to the analysis of ELANE mutations in a resource poor setting, as they are the most common group of mutations among all genetic mutations that result in congenital neutropaenia.
How to Cite: Suriapperuma, T., Hewage, N., Udagedara, C., Thennakoon, N., Senadheera, N., Thewarapperuma, C. and Weerasekara, K., 2020. Severe congenital neutropaenia with ELANE mutation: a case report. Sri Lanka Journal of Medicine, 29(2), pp.80–82. DOI: http://doi.org/10.4038/sljm.v29i2.187
Published on 15 Dec 2020.
Peer Reviewed

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