Dr Gary Reubenson and Dr Gillian Sorour, Dept of Paediatrics and Child Health, University of Witwatersrand
A 13 year old girl was referred from a district hospital to an academic secondary level hospital. She had been born in South Africa, but had lived in Mozambique continuously for the last 5 years. She had recently returned to South Africa as she was unwell and her mother lived here.
According to the referral note, she had been ill for 14 days with high fevers and chills, headaches and a distended abdomen. The doctors at the referring hospital had also identified pancytopenia.
She had apparently been previously well with no prior hospital admissions. Initial investigations included two reactive Rapid-HIV tests, a negative falciparum malaria antigen test and a negative malaria smear.
On examination, she was ill-looking, her weight plotted on the 3rd percentile and her height on the 10th percentile. Her temperature was 40°C, she had marked pallor and generalized significant cervical, axillary and inguinal lymphadenopathy. She also had bilateral pedal and peri-orbital oedema.
On abdominal examination her liver was palpable 5cm and her spleen 18cm below the costal margin. There was no ascites or prominent abdominal wall veins. Her initial investigations showed:
|Haemoglobin 4.8g/dl||LDH 410 (122-234)||Multiple blood cultures negative|
|MCV 75.8 fl||C-reactive protein 118||Sputum AFB & culture negative|
RPI 0 (later = 2.1)
|Urine Prot:Creat 0.20 g/mmol (normal range <0.02)||HAV IgM, HBsAg, HCV IgM negative CMV, EBV, Parvovirus, Rubella, HSV all negative|
|WBC 1.73 x 109/L||Albumin 16 g/L||Schistosoma serology negative|
|Neutrophil count 0.81 x 109/L||Liver function tests normal||CD4 T cell count 113 cells/mm3|
|Platelets 12 x 109/L||Urea and electrolytes normal||HIV Viral load unknown|
|Haptoglobin <0.01||Triglycerides 3.3||ANA negative|
|Malaria RDT* negative|
|Malaria RDT* negative|
* Plasmodium falciparum antigen and pan-malarial antigen
CXR – Normal
Progress in the ward:
Spiked high temperatures (up to 40 °C) throughout her admission
Started on intravenous quinine, but stopped after 2 days
7 days ceftriaxone
Transfused packed cells repeatedly
Started on empiric 4-drug TB treatment
ARVs started 12 days after TB treatment initiated
Cotrimoxazole changed to dapsone in view of persistent anemia
She underwent a bone marrow examination:
The aspirate showed a hypercellular marrow with hemopoietic activity in all 3 cell lines. The trephine was of sub-optimal quality, but confirmed hypercellularity. There was some evidence of non-refractile pigment noted in macrophages and an abnormal infiltrate could not be excluded.
The conclusion of the test was that her pancytopenia was probably multifactorial due to a combination of dyshaemopoiesis (infection and/or nutritional), reticul-endothelial iron blockade, DIC and hypersplenism. The child was sent to a paediatric haematology-oncology subspecialty unit for biopsy and unfortunately demised unexpectedly the night before the scheduled procedure.
A postmortem was performed:
Question 1: What is the differential diagnosis for massive splenomegaly in this child?Continue to Answer 1