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
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)
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