BJH - 2021, issue 2, march 2021
S. Kluijfhout MD, P. Stordeur PhD, M. van den Akker MD, S. Ryckx MD, J. van der Werff ten Bosch MD, PhD
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)
Read moreBJH - volume 11, issue 6, october 2020
L. De Smaele , M. Hofmans MD, PhD, T. Lammens PhD, A. Van Damme MD, PhD, J. van der Werff ten Bosch MD, PhD, A. Ferster MD, PhD, J. Verlooy MD, C. Chantrain , J. Philippé MD, PhD, N. Van Roy PhD, P. De Paepe MD, PhD, V. Labarque MD, PhD, B. De Moerloose MD, PhD
Childhood myelodysplastic syndrome (MDS) and juvenile myelomonocytic leukaemia (JMML) are very rare clonal stem cell disorders of early childhood. Paediatric MDS can be further subdivided in refractory cytopenia of childhood (RCC) and high grade MDS, in case of excess blasts. Given their rarity, little is known about the epidemiology of these diseases in Belgium. The aim of this study is to investigate the incidence, characteristics, treatment and prognosis of paediatric MDS and JMML in Belgium. Prospectively collected data of 56 Belgian patients with MDS and JMML were enrolled in the study, of which 41 (73%) with MDS, eleven with JMML (20%) and four (7%) with Noonan syndrome associated myeloproliferative disorder. The incidence rates of MDS and JMML in Belgium were 1.5 and 0.4 per million children per year respectively, with a median age of diagnosis of 9.3 years for RCC, 9.5 years for high grade MDS and 2.6 years for JMML. Monosomy 7 was the most common cytogenetic abnormality and could particularly be found in high grade MDS (33%) and JMML (45%). RCC treatment consisted of immunosuppressive therapy (IST) and haematopoietic stem cell transplantation (HSCT), but in high grade MDS and JMML only HSCT was a valid treatment option. Overall survival was significantly lower in high grade MDS (45.0%) compared to JMML (79.5%) and RCC (80.6%) (log-rank p-value = 0.038), whereas event-free survival (EFS) was comparably low in high grade MDS and JMML (46.7% and 58.4% respectively) due to a high cumulative incidence of relapse (CIR) of 33% and 29.9%, respectively. Outcome was best for RCC patients with highest EFS (76.3%; 57.1% if IST failure was considered as event) and lowest CIR (9.3%). This study highlights that paediatric MDS and JMML are very rare disorders with associated morbidity and mortality, especially in high grade MDS and JMML. Considering the high relapse risk in high grade MDS and JMML, new therapeutic options are required.
(BELG J HEMATOL 2020;11(6):233-9)
Read moreBJH - volume 11, issue 6, october 2020
E. Damen MD, M. van den Akker MD, S. Diallo MD, S. Uyttebroeck MD, B. Hauser MD, PhD, J. van der Werff ten Bosch MD, PhD
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)
Read moreBJH - volume 5, issue 3, september 2014
J. Van Der Straeten MSc, B. De Moerloose MD, PhD, M-F. Dresse MD, PhD, S. Dupont MD, A. Ferster MD, PhD, P. Philippet MD, A. Uyttebroeck MD, PhD, J. van der Werff ten Bosch MD, PhD, C. Demanet MD, PhD, Y Benoit MD, PhD, M. Bakkus PhD
In Belgium approximately 70 children are diagnosed with acute lymphoblastic leukaemia annually. For these children, the monitoring of minimal residual disease has an important prognostic value. The level of minimal residual disease during the first three months of therapy is used to recognise subgroups that differ substantially in outcome. Two techniques are used for minimal residual disease monitoring: the Genescan method and the allele specific oligonucleotide polymerase chain reaction. The Genescan method is a less sensitive method (10−3) but is fast and less expensive. The allele specific oligonucleotide polymerase chain reaction requires more time and budget but has a sensitivity of 10−4–10−5. Both techniques have proven their value in minimal residual disease monitoring in childhood acute lymphoblastic leukaemia.
(BELG J HEMATOL 2014;5(3):81–8)
Read moreBJH - volume 4, issue 4, december 2013
S. van Steijn MD, A. Van Damme MD, PhD, A. Malfroot MD, PhD, J. van der Werff ten Bosch MD, PhD
Haemolytic anaemia in childhood has an extensive differential diagnosis. We present a case of a twelve year old girl with haemolytic anaemia. A diagnosis of auto-immune haemolytic anaemia, probable Systemic Lupus Erythematosus was withheld. The girl was treated with immunosuppressive medication including prednisone and monoclonal anti-CD20 (Rituximab). After two years of follow-up a mediastinal mass was found and the diagnosis of Hodgkin’s lymphoma was confirmed. She was treated with chemotherapy and radiotherapy with good response. This case reminds us that Hodgkin’s lymphoma is not always an obvious diagnosis and that we should exclude this diagnosis in all patients with haemolytic anaemia or other auto-immune (like) manifestations.
(BELG J HEMATOL 2013; 4(4):148–150)
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