Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027947 (neutropenia)
 17,527 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Primary familial hemophagocytic lymphohistiocytosis (HLH; or familial erythrophagocytic lymphohistiocytosis [FEL]) is a heterogeneous autosomal recessive disorder more prevalent with parental consanguinity. There is aggressive proliferation of activated macrophages and histiocytes, which phagocytose red blood cells (RBCs), white blood cells (WBCs), and platelets, leading to anemia, neutropenia and thrombocytopenia. The exaggerated response of immune system in familial HLH can occur in the absence of infection. We report on two Saudi siblings with familial hemophagocytic lymphohistiocytosis. The first case was diagnosed and started on treatment but died after ten days of treatment while the second one was referred to a higher centre for treatment but died before commencing chemotherapy treatment. This rare inherited aggressive disease needs high index of suspicion and early treatment. Anti-inflammatory therapy consisting of steroids, etoposide or antithymocyte globulin (ATG), should be instituted promptly, followed by curative hematopoietic cell transplantation to get a better outcome. Without treatment, most patients with familial hemophagocytic lymphohistiocytosis survive only a few months.
Sudan J Paediatr 2015
PMID:Familial hemophagocytic lymphohistiocytosis in two Saudi siblings. 2749 22

Bacterial meningitis is characterized by inflammation of the meninges covering the brain. It is a life-threatening illness, if untreated. The aim of this study was to examine whether blood tests including C-reactive protein (CRP) and full blood count (FBC) predict bacterial meningitis in children. We also examined the relationship between cerebrospinal fluid (CSF) tests including gram stain, culture and polymerase chain reaction (PCR) and blood tests such as culture and PCR results. We studied 11 patients admitted with bacterial meningitis in the Paediatric wards, National Children's Hospital, Dublin, Northern Ireland (2012-2016). The mean age was 10.7 (SD, 14.7) months. In this group of patients, 5 (45.5%) had leucocytosis, 7 (63.6%) experienced neutrophilia and 1 (9.1%) had both leukopenia and neutropenia. C-reactive protein (CRP) value of less than 1 mg/L was found in 2 patients (18.2%). No link was found between CSF gram stain and CSF culture (p value 0.66) or CSF PCR results (p value 0.75). Meningitis should be investigated and treated if clinically suspected, regardless of CRP values or peripheral blood results.
Sudan J Paediatr 2016
PMID:Blood tests are not always helpful in predicting bacterial meningitis in children. 2809 62

A 7-month-old male baby presented to the pediatric hematology unit for investigations of recurrent episodes of neutropenia associated with fever and respiratory distress. He developed a stormy course with severe respiratory distress syndrome associated with opportunistic polymicrobial pulmonary infections. Extensive radiological, microbiological, and immunological investigations suggest immunodeficiency with opportunistic polymicrobial pulmonary infections.
Sudan J Paediatr 2018
PMID:An infant with severe acute respiratory distress syndrome and an opportunistic polymicrobial pulmonary infection: a case report. 3079 97