HEMATOCASE

Managing complement deficiencies: Not as complex as it seems

BJH - 2021, issue 2, march 2021

J. van der Werff ten Bosch MD, PhD, M. van den Akker MD, P. Stordeur PhD, S. Kluijfhout MD, S. Ryckx MD

SUMMARY

We describe two young children with pneumococcal meningitis, one of them with a complement deficiency. Our aim is to illustrate the importance of testing the complement system in young patients with severe bacterial infections and to stress the importance to respect pre-analytical conditions. We found in a child of consanguineous parents a complement factor I deficiency, which is associated with severe recurrent pyogenic infections mainly caused by Neisseria meningitidis, Streptococcus pneumoniae and Haemophilus influenzae. We conclude that complement deficiencies are rare but immunological workup should be done in case of recurrent bacterial infections. Patients need follow up, antibiotic prophylaxis and additional vaccinations.

(BELG J HEMATOL 2020;12(2):85-9)

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Rhabdomyosarcoma mimicking acute leukaemia diagnosed on bone marrow

BJH - volume 11, issue 7, november 2020

A-L. Trepant MD, C. Motet MD, J. Brauner MD, J. Deuson MD, L. Delval MD

SUMMARY

A 65-year-old woman presented with thrombocytopenia. A bone marrow biopsy was done and showed a cellular bone marrow infiltration by 94% of blast-like cells making the diagnosis of acute leukaemia. However, flow cytometry excluded hematological malignancy. After an extensive panel of immunohistochemical stains and genetic analysis, the diagnosis of metastatic alveolar rhabdomyosarcoma was made.

(BELG J HEMATOL 2020;11(7):317-9)

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Long-term treatment-free molecular remission in a FIP1L1-PDGFRA positive myeloid/lymphoid neoplasm with eosinophilia after Imatinib discontinuation

BJH - volume 11, issue 7, november 2020

dr. A. Salaroli MD, D. Bron MD, PhD, D. Papazoglou MD, P. Heimann MD, PhD, P. Lewalle MD, PhD

SUMMARY

A 47-year-old patient was diagnosed with FIP1L1-PDGFRA-positive myeloid/lymphoid neoplasm with eosinophilia (F/P+ MLN-eo) and was successfully treated with Imatinib, achieving a sustained molecular treatment free remission (TFR) persisting three years after discontinuation.

(BELG J HEMATOL 2020;11(7):320-4)

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DNAJC21 mutations as a cause of early onset bone marrow failure: report of two cases

BJH - volume 11, issue 6, october 2020

B. Hauser MD, PhD, E. Damen MD, J. van der Werff ten Bosch MD, PhD, M. van den Akker MD, S. Diallo MD, S. Uyttebroeck MD

SUMMARY

DNAJC21 mutations have recently been discovered as the rare cause of a Swachmann Diamond-like syndrome. So far, fifteen children have been reported in literature. We here describe two new patients from two different families, both harbouring previously undescribed mutations. Our patients had different mutations, but looked phenotypically alike and both presented with oral aversion. One patient presented with amegakaryocytosis only, which is not described as such in literature. The other patient presented with low platelets and only a mild decrease in neutrophils and haemoglobin, had only amegakaryocytosis in the bone marrow and developed pancytopenia soon afterwards. Finally, both patients had low elastase in stool, although they had no clinical signs of pancreatic insufficiency, hinting that this easy test should not be forgotten in the work up of patients with congenital amegakaryocytosis or bone marrow failure syndrome.

(BELG J HEMATOL 2020;11(6):268-71)

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Oxaliplatin-induced immune mediated haemolytic anaemia, thrombocytopenia and renal failure

BJH - volume 11, issue 3, may 2020

D. Dierickx MD, PhD, J. Loos MD

SUMMARY

Oxaliplatin-based chemotherapy is commonly used to treat colorectal cancer. After prolonged administration it can rarely lead to hypersensitivity reactions such as immune mediated haemolytic anaemia and thrombocytopenia. We present the case of a 50-year old patient admitted with acute onset of fever, dark urine and back pain during the ninth infusion of oxaliplatin. Two weeks before the current event he experienced similar though less severe symptoms. Laboratory signs were compatible with severe Coombs positive haemolytic anaemia, thrombocytopenia and acute kidney injury. Signs of haemolysis abated quickly, however, the patient developed anuria and required dialysis for thirty days. Immune mediated haemolytic anaemia is a rare but potentially life-threatening complication of prolonged oxaliplatin therapy, especially when kidney failure develops. A careful history and high index of suspicion may identify warning signs leading to increased vigilance and possible prevention of such events.

(BELG J HEMATOL 2020;11(3):128–32)

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Rituximab induced serum sickness or immune complex deposition disease: case report and desensitisation protocol

BJH - volume 11, issue 2, march 2020

N.C. Granacher MD, T. Eyckmans MD

SUMMARY

The chimeric monoclonal IgG1 antibody directed to CD20 Rituximab is used to treat various haematological malignancies and auto-immune diseases. Serum sickness is a type III hypersensitivity reaction leading to the formation and tissue deposition of immune antibody-antigen complexes. It has been described as a very rare complication of Rituximab treatment, mainly seen in patients treated for auto-immune diseases. We report the case of a patient with Waldenstrom’s macroglobulinaemia whose Rituximab treatment was complicated by documented immune complex deposition or serum sickness. We successfully applied a Rituximab desensitisation protocol, which allowed us to complete treatment.

(BELG J HEMATOL 2020;11(2):75–8)

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Severe neutropenia in an infant after treatment with infliximab during pregnancy

BJH - volume 10, issue 7, november 2019

B. De Moerloose MD, PhD, C. Verbeke MD, M. Verstraeten MD

SUMMARY

We describe a 7-month-old girl with severe neutropenia born to a mother treated for ulcerative colitis with infliximab until the 24th week of pregnancy. Despite the recommendation of using Tumour Necrosis Factor inhibitors (TNFi) only in the first and second trimester of pregnancy, significant levels of TNFi in offspring are possible. Hence, drug-induced neutropenia should be considered in the differential diagnosis of infants with severe neutropenia if these were exposed to TNFi in utero. Moreover, additional information is given on the risk of infection and dysfunctional immune development in these new-borns.

(BELG J HEMATOL 2019;10(7):285–9)

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