CASE REPORT

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

DOI:http://dx.doi.org/10.4314/njp.v41i3,18

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-

menced.

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.

Email: anekejc@ymail.com.

Key words: Atypical presenta-

tions, metastatic neuroblastoma,

childhood acute lymphoblastic

leukaemia.

diagnosis of ALL was established

Introduction

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.

1

ALL accounts for up to 30% of childhood cancers in

Caucasians , thus it is among the most common paediat-

ric malignancies.

2

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.

3

4

5

sion , stroke , absence of blasts in the peripheral blood ,

6

obstructive jaundice , and isolated masseter muscle

7

involvement have been variously reported.

We report here a case of ALL presenting with atypical

features, in a Nigerian child to highlight challenges of

diagnosis.

Bilateral parietal bossing along with coronal sutural

diathesis was also noted. The anterior fontannel was

2

45

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-

vice.

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

considered.

Discussion

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

3

-6

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

9

leucocytosis (white cell count of 20.8 x 10 /L) and mild

9

7

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

3

4

availability of funds.

presenting as vertebral compression , stroke , absen₆ce of

5

blasts in peripheral blood and obstructive jaundice .

Fig 2: Bone marrow

film, showing L1

lymphoblasts

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

4

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

lymphoblasts

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

2

46

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.

2

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.

Conclusion

Childhood ALL may present in a rather atypical manner.

A high index of suspicion, complimented by appropriate

References

1

.

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.

2012;34:75-5.

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.

2009;360:2730-41.

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-

3.

6. Alvaro F, Jain M, Morris LL, Rice

MS. Childhood acute lymphoblas-

tic leukaemia presenting with

jaundice. J Paediatr Child Health.

1996;32:466-8.

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

rd

2

3

.

2

013;35:245-52.

Hafiz MG, Islam A, Siddique R.

Back pain and vertebral compres-

sion: an unusual presentation of

childhood acute lymphoblastic

leukaemia. Mymensingh Med J

2

010; 19:130-6.

4

.

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-

15;70:8897-901.

9

.