Cardiomyopathy in a male patient with neutropenia and growth
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Case report
The patient was born from an uneventful pregnancy with normal perinatal conditions. The patient's mother reported one previous miscarriage during the first weeks of gestation. At birth, the patient's body measurements were at the lower percentile: weight was 2.870 g (10th percentile), length 49 cm (10th percentile) and head circumference 32 cm (<3rd percentile). No family history of CMP was reported. The patient's clinical history included a first admission at the age of 9 days for omphalitis. During this admission, borderline neutropenia was found (ANC: 1010/mm3). He was discharged with indications to perform periodical controls of neutrophil count. During these periodical controls, a severe neutropenia (WBC: 6140/mm3; ANC: 80/mm3) was detected at the age of 30 days requiring hospital admission. Bone marrow aspirate showed a maturational arrest of neutrophil precursors at the promyelocytic stage. The routine laboratory work up, including serology for viruses and bacteria and anti-neutrophil-specific antibodies, was negative. Genetic analysis of the ELANE and HAX1 genes, mutations which account for 60-70% of congenital neutropenia, did not reveal any alteration. Treatment with Granulocyte-Colony Stimulating Factor (G-CSF) (10 ?g/kg/day) was undertaken due to severe neutropenia and withdrawn after stable normalization of ANC (1600/mm3). The patient was discharged with diagnosis of CN and was regularly followed at the outpatient clinic.....

https://ijponline.biomedcentral.com/articles/10.1186/1824-7288-40-45
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