Niger J Paed 2014; 41 (3): 244 –246  
Okocha EC  
Ulasi T  
Aneke JC  
Ajuba IC  
Okwummuo EP  
Unusual presentations of  
childhood acute lymphoblastic  
leukaemia: A case report  
Accepted: 6th April 2014  
Abstract: Childhood acute lym-  
following a bone marrow aspira-  
tion study that revealed abnormal  
cellularity consistent with L1  
morphological subtype. Unfortu-  
nately, the child was discharged  
against medical advice before de-  
finitive therapy could be com-  
phoblastic leukaemia, (ALL) is  
increasingly reported to present in  
an atypical fashion which may  
have significant implications for  
treatment outcomes and survival.  
This case report presents a  
Nigerian child who’s clinical and  
radiological features together with  
effusion cytological findings were  
suggestive of metastatic neuroblas-  
toma. However, a definitive  
Aneke JC  
Okocha EC, Ajuba IC, Okwummuo EP  
Department of Haematology,  
Ulasi T  
Department of Paediatrics,  
Nnamdi Azikiwe University Teaching  
Hospital, PMB, 5025, Nnewi,  
Anambra State, Nigeria.  
Key words: Atypical presenta-  
tions, metastatic neuroblastoma,  
childhood acute lymphoblastic  
diagnosis of ALL was established  
Case Report  
Acute lymphoblastic leukaemia (ALL) is a malignant  
haematological condition that arises from an acquired  
somatic mutation in a lymphoid progenitor cell . This  
mutation may occur at various points in the development  
of the lymphoid progenitor. Malignant proliferation and  
accumulation of lymphoid blasts in the bone marrow  
and some extramedullary sites such as the liver, spleen,  
skin, testes (in males) and even the central nervous sys-  
tem (CNS) is the hallmark of this disease.  
A 4- year- old male Nigerian was seen at the Nnamdi  
Azikiwe University Teaching Hospital, Nnewi, with a  
14- week history of recurrent fever, multiple facial  
swellings with enlargement of the head and protrusion  
of the eyes, (fig. 1). There was also a history of signifi-  
cant weight loss and nasal discharge that occasionally  
was blood tinged.  
ALL accounts for up to 30% of childhood cancers in  
Caucasians , thus it is among the most common paediat-  
ric malignancies.  
Fig1: Showing head and  
anterior chest wall swellings  
Clinically, ALL may have diverse patterns of presenta-  
tion; typically its clinical presentation is related to bone  
marrow failure and extra medullary effects of the dis-  
ease. As such common symptoms range from those aris-  
ing secondary to cytopaenias (including anaemia, leuco-  
paenia and thrombocytopaenia) to those due to organ/  
system infiltration such as lymphadenopathy and hepa-  
tosplenomegaly. Increasingly, unusual presentation of  
childhood ALL is being documented in literature and  
cases presenting with back pain and vertebral compres-  
General examination was significant for marked weight  
loss, moderate mucosal pallor, significant generalized  
lymph node enlargement and bipedal pitting oedema.  
Three discrete masses were noted on the left part of the  
frontal bone, left part of the jaw and anterior chest wall,  
measuring 10cm, 6cm and 9cm in their longest diame-  
ters respectively. These swellings were globular, firm to  
hard in consistency, non mobile, non tender and were  
neither attached to overlying skin nor showed any differ-  
ential warmth.  
sion , stroke , absence of blasts in the peripheral blood ,  
obstructive jaundice , and isolated masseter muscle  
involvement have been variously reported.  
We report here a case of ALL presenting with atypical  
features, in a Nigerian child to highlight challenges of  
Bilateral parietal bossing along with coronal sutural  
diathesis was also noted. The anterior fontannel was  
patent and normotensive, measuring 2cm x 2cm. He had  
no signs of meningeal irritation and muscle tone and  
power were normal globally.  
terminated as child was discharged against medical ad-  
His abdomen was uniformly distended with palpably  
enlarged, firm and tender liver, 10cm below the right  
costal margin. Ascites was present and demonstrable.  
Chest examination was significant for reduced chest  
expansion and stony dull percussion notes over the right  
hemi thorax with absence of breath sounds in both the  
right mid and lower zones.  
A provisional clinical diagnosis of neuroblastoma me-  
tastatic to the right hemi thorax and the head region was  
Atypical presentations of ALL have reportedly consti-  
tuted an enormous challenge, in terms of diagnosis, es-  
pecially in resource poor settings. However, advances in  
diagnostic protocols, especially in the realm of immuno-  
phenotyping and relevant molecular diagnostics have  
greatly enhanced diagnostic precision in such atypical  
cases . While such levels of diagnostic accuracy is de-  
sirable, the application of basic cytological techniques  
for the analysis of appropriate specimens has continued  
to provide valuable information in resource poor set-  
tings. In this patient, bone marrow study was able to  
establish a diagnosis of ALL.  
An abdomino-pelvic ultrasonographic examination  
showed a right sided supra renal mass while a chest ra-  
diograph demonstrated right sided pleural effusion, the  
cytology of which revealed hypercellular smears show-  
ing sheets of medium sized cells with high nucleo-  
cytoplasmic ratio, in a dirty background. The neoplastic  
cells have coarse chromatin pattern. Overall features  
were suggestive of a malignant (round) blue cell tumour,  
probably neuroblastoma. These findings reinforced me-  
tastatic neuroblastoma as the most probable diagnosis.  
The patient was seronegative for HIV 1 and 2, while  
haemoglobin electrophoresis confirmed AA haemoglo-  
bin phenotype. Complete blood count was significant for  
severe anaemia (Haematocrit was 0.17L/L), moderate  
Our patient presented with head enlargement, facial and  
anterior chest wall swellings. Typically children with  
ALL tend to present with extra medullary organ enlarge-  
ment owing to infiltration by lymphoblasts and while the  
liver, spleen and testes are the most frequently affected  
organs, other less common extra medullary sites have  
been reported in the literature. Coronal sutural diathesis  
as well the patent anterior frontannel observed in this  
patient may be an indication of CNS infiltration by lym-  
phoblasts; a CT scan however was not done to confirm  
leucocytosis (white cell count of 20.8 x 10 /L) and mild  
thrombocytopaenia (platelet count of 76 x 10 /L). Blood  
this. Wimperis et al in 1992 described two children with  
film and bone marrow cytology were however in keep-  
ing with ALL, L1 morphological type (figs 2 and 3).  
Flow cytometric analysis of peripheral blood cells  
showed positivity for CD 45, an extended immunophe-  
notypic profile as well as cranial computed tomography  
ALL in whom isolated masseter muscle involvement  
was the only presenting feature of the disease. Accurate  
diagnoses of the cases were hinged on the use of im-  
munophenotyping and immunogenotyping. Indeed, such  
extended panel of diagnostic tools have proved useful in  
establishing diagnoses in similar atypical cases of ALL  
CT) scan could not be done because of the non  
availability of funds.  
presenting as vertebral compression , stroke , absen6ce of  
blasts in peripheral blood and obstructive jaundice .  
Fig 2: Bone marrow  
film, showing L1  
The initial diagnosis in this child was metastatic neuro-  
blastoma based on his age and the clinical presentation  
of multiple masses in the head region and chest and re-  
enforced by the ultrasonographic finding of a supra renal  
mass together with the pleural effusion cytology report.  
However, in this patient, peripheral blood and bone mar-  
row cytology were both in keeping with ALL of the L1  
morphological type. Besides, the demonstration of CD  
5 lineage antigen supported the haematopoietic origin  
of this malig8nant condition. In a recent case study, D’an-  
gelo et al, reported ALL co-existing with neuroblas-  
toma in a 3 year old girl, as different disease entities. We  
had entertained the possibility of this phenomenon at a  
stage in the management of this child prior to bone mar-  
row investigations; in point of fact, biopsied tissue sam-  
ple of one of the masses had been scheduled but later  
considered unnecessary.  
Fig 3: Peripheral  
blood film, showing  
Advances in ALL treatment have ushered in an indi-  
vidualized, tailored and risk adapted approach, utilizing  
a myriad of chemotherapy options with or without  
haematopoietic stem cell transplantation. Treatment  
Supportive treatment including blood product transfu-  
sions were commenced while work up including biopsy  
of the masses was planned as a prelude to definitive che-  
motherapy for ALL. However, further care was abruptly  
stratification is commonly based on the biologic features  
of individual d9isease . Utilizing the risk adapted proto-  
diagnostic tests is essential in making early and accurate  
diagnoses in cases of ALL with atypical presentations.  
col, Pui et al, suggested that prophylactic cranial irra-  
diation, which has been a component of the standard  
treatment of childhood ALL, may safely be omitted.  
Unfortunately our patient did not stay long enough in  
our care to receive any definitive treatment; he was not  
followed up to the community.  
Conflict of Interest: None  
Funding: None  
Limitation of this report  
A biopsy and histology of the body masses, including  
that on the adrenals (preferably via ultrasound guide)  
might have been a more definite way to rule out the pos-  
sibility of neuroblastoma co-existing with ALL in this  
child, this was however not done.  
Childhood ALL may present in a rather atypical manner.  
A high index of suspicion, complimented by appropriate  
Provan D, Singer CRJ, Baglin T,  
Dokal I. Oxford Handbook of  
Clinical Haematology. Oxford  
University Press, New York. 3  
Ed. 2009.p132.  
Lo Nigro L. Biology of childhood  
acute lymphoblastic leukaemia.  
J PediatrHematol Oncol.  
5. Cogulu O, Karapinar DY, Karaca  
8. D’angelo, Grigoli A, Sementa AR,  
Tropia S, Alaggio R, Arico M.  
Simultaneous diagnosis of acute  
lymphoblastic leukaemia and pe-  
ripheral neuroblastic tumour in a  
child. J PediatrHematol Oncol.  
9. Piu CH, Campana D, Pei D, Bow-  
man WP, Sandlund JT, Kaste SC  
et al. Treating childhood acute  
lymphoblastic leukaemia without  
cranial irradiation. N Engl J Med.  
E, Aydinok Y, Ozkinay F. Un-  
usual course of an acute lym-  
phoblastic leukaemia case with i  
(9q) as a sole cytogenetic abnor-  
mality. Leuk Res. 2006; 30:1461-  
6. Alvaro F, Jain M, Morris LL, Rice  
MS. Childhood acute lymphoblas-  
tic leukaemia presenting with  
jaundice. J Paediatr Child Health.  
7. Wimperis JZ, Brandt LJ, O’Con-  
nor S, Marcus R, Broadbent V.  
Unusual presentation of common  
acute lymphoblastic leukaemia  
antigen-positive extra medullary  
disease in childhood. Two patients  
with isolated masseter muscle  
involvement. Cancer.1992  
Hafiz MG, Islam A, Siddique R.  
Back pain and vertebral compres-  
sion: an unusual presentation of  
childhood acute lymphoblastic  
leukaemia. Mymensingh Med J  
010; 19:130-6.  
Ege MJ, Meyer LH, Debatin KM,  
Stahnke K. Co-incidence of recur-  
rent hemiparesis and detection of  
acute lymphoblastic leukaemia in  
a 4 year old girl: one or two dis-  
ease. KlinPediatr. 2009;221:386-