Morphology as guide to management- Myelokathexis A case report

摘要

A 9 year old girl reported to hematology OPD with history of recurrent episodes of oral ulcers and painful swollen gums since the age of 4 years, each lasting for 4 to 5 days. Occasionally these episodes were associated with fever. She was symptomatic once a month . There was no family history of similar illness. She did not have any dysmorphic features. Her height, weight and head circumference were within normal limits. She had large pale ulcers in oral cavity mucosa with inflammed red gums. CBC showed severe neutropenia. On performing serial CBCs ( thrice weekly ), it was found that nadir ANC was once in 21 days. Bone marrow study showed depressed granulopoesis [ this was performed in the week prior to development of severe neutropenia]. Mutations in ELANE gene was posi- tive confirming the diagnosis of cyclical neutropenia. She was started on Inj GCSF 2-3 microgram per kg on alternate days and is currently on follow up.