Morphology As a Guide to the Diagnosis of a Rare Cause of Neutropenia
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CORRESPONDENCE
Morphology As a Guide to the Diagnosis of a Rare Cause of Neutropenia Dhaarani Jayaraman1 • Greeshma Rajeev2 • Sri Gayathri Shanmugam3 Febe Renjitha Suman3
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Received: 20 November 2019 / Accepted: 6 May 2020 Ó Indian Society of Hematology and Blood Transfusion 2020
Dear editor, Systematic approach to neutropenia is very important to arrive at timely appropriate diagnosis. Myelokathexis is a very rare morphological variant presenting with neutropenia and associated with Warts, Hypogammaglobulinemia, Infections, and Myelokathexis [WHIM syndrome]. We present a case of an adolescent boy who was incidentally detected to have myelokathexis. A, 15 year-old developmentally normal boy underwent routine investigation due to parental anxiety as his e lder sibling succumbed to metastatic neuroblastoma. Investigation revealed severe neutropenia and other two cell lines were normal. Child was asymptomatic with no recent infections, loss of appetite/weight, bleeds, bone pain or fever. He had normal growth and didn’t have dysmorphism, lymphadenopathy or organomegaly. Past history suggested drainage and antibiotics for an episode of neck abscess at 8 years of age. Total WBC count was 1400/lL with differential count of Neutrophils-19% [Absolute Neutrophil count-ANC-266/ lL], Lymphocytes-64%, Eosinophils-4%, Monocytes-12%. Peripheral smear showed leukopenia with no abnormal morphology. Vitamin B12 level was normal; ANA was & Dhaarani Jayaraman [email protected] 1
Division of Pediatric Hemato-Oncology, Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Sri Ramachandra University, No. 1, Ramachandra Nagar, Porur, Chennai 600116, India
2
Department of Pediatrics, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, India
3
Department of Pathology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, India
negative and all serum immunoglobulins were decreased with low-normal levels [in g/L-IgG-7.15 7–16], IgM0.427[0.4–2.3], IgA-0.78[0.8–4] and IgE \ 18 in IU/mL]. Bone marrow examination showed myeloid hyperplasia with myeloid-erythroid ratio of 4.4:1. Almost all the neutrophils in marrow show hypersegmented nuclei with highly condensed chromatin, nuclear lobes separated by long, thin strands of chromatin, and cytoplasmic vacuolation consistent with the diagnosis of myelokathexis (Fig. 1). Karyotyping was normal. Clinical exome sequencing revealed a heterozygous nonsense variation in exon-1 of the CXCR4 gene [chr2:136872498G [ A]. Complete blood counts of parents were normal. In the index child, trial of G-CSF at 5 lg/kg showed good neutrophil increment. We have planned to support him during febrile neutropenia with G-CSF injections and appropriate antibiotics. Child has remained asymptomatic during 1 year of follow-up with ANC ranging between 220 and 460/cubic mm. Parents were counselled regarding the neutropenic care and Human Papilloma virus [HPV] vaccine. The diagnostic approach to neutropenia involves a careful analysis of clin
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