CASE REPORT

Niger J Paed 2012; 40 (1): 91 –92

Okpokowuruk FS

Umana IN

Adesina OA

Histiocytosis in a 7 year old boy, a

diagnostic dilemma.

DOI:http://dx.doi.org/10.4314/njp.v40i1.19

Accepted: 16th June 2012

Abstract Histiocytoses are a group

of rare disorders which are charac-

terized by the infiltration/

accumulation of histiocytic cells in

affected tissues. Their mode of

clinical presentation varies greatly

and can represent a diagnostic chal-

lenge in our environment where

there is a paucity of diagnostic fa-

cilities. This report is on a 7 year

old boy with probable Histiocytosis

who initially presented with signs

and symptoms suggestive of pulmo-

nary tuberculosis. Difficulties in

reaching a conclusive diagnosis of

the type of histiocytosis coupled

with financial limitations contrib-

uted to the eventual demise of this

patient.

Okpokowuruk FS

Adesina OA

(

)

Department of Paediatrics,

Umana IN

Department of Pathology,

University of Uyo Teaching Hospital,

Uyo, Akwa Ibom State. Nigeria.

Email: zipsadoo@yahoo.com

Key words: Histiocytosis, tubercu-

losis, diagnostic facilities.

Introduction

of eight percent. In addition, the presence of neutro-

philic toxic granulations was noted. Malaria parasites

were present in the blood film. Based on these findings,

an initial assessment of malaria and sepsis, to rule out

asthma was made and the patient was treated with anti-

malarials and antibiotics and nebulised with salbutamol

together with oral steroids.

Histiocytosis refers to a group of rare disorders which

are characterized by the accumulation and infiltration of

monocytes, macrophages and dendritic cells in affected

tissues. This excludes diseases in which infiltration of

these cells occurs in response to a primary pathology.

There are three major classes of the disease-Langerhans

cell histiocytosis(Histiocytosis X),Malignant Histiocyto-

sis syndrome(T-cell lymphoma) and Non –Langerhans

Despite the above treatment, the patient continued to

deteriorate, was losing weight, remained febrile and

dyspnoeic and was observed to have generalized lym-

phadenopathy. A working diagnosis of disseminated

tuberculosis was made and further investigations carried

out included a chest x-ray and abdominal ultrasound

scan which revealed hilar/hepatic masses and a negative

Mantoux reaction. A lymph node biopsy was performed

and sent for histology. The tissue sections showed a si-

nusoidal proliferation (Fig. 1) composed of histiocytes

with atypical features and occasional haemophagocytic

forms consistent with malignant histiocytosis. Due to

lack of facilities for electron microscopy in this environ-

ment, ultrastructural findings of Birbeck granules could

not be demonstrated but a bone marrow aspirate showed

marrow infiltration by histiocytic cells displaying

haemophagocytosis.

cell histiocytosis(haemophagocytic syndrome). Clinical

presentation varies greatly and in our environment

where there is paucity of diagnostic facilities, this dis-

ease could present a diagnostic challenge.

Case report

The patient A .R .U, was a seven and a half year old boy

who presented with a one month history of fever, cough

and difficulty in breathing. Cough was non productive,

non paroxysmal and worse at night. There was no his-

tory of contact with any person with chronic cough and

the patient was not a known asthmatic. Difficulty in

breathing was noticed at about the same time as the

cough, was associated with wheezing, worse at night

and also worsened by exertion. Fever was initially low

grade, then high grade and intermittent. It had no varia-

tion with time of day.

Fig 1: Sheets of histiocytes

filling the sinusoids

Physical examination at initial presentation revealed a

well nourished boy, not pale and afebrile. His respira-

tory rate was 32cpm with bilateral rhonchi in both

hemithoraces. He had a hepatomegaly of 5cm below the

right costal margin which was smooth, soft and tender.

The initial full blood count result showed a packed cell

volume of 28 percent, total white cell count of 14,800/

The patient was com-

menced on cytotoxic therapy with intravenous cyclo-

phosphamide 1000mg/M day one, vincristine 1.4mg/M

mm with a neutrophilia of 92 percent and lymphocytes

day one, doxorubicin 50mg/M day one and oral Predni-

our initial list of differential diagnoses. Pulmonary in-

volvement in histiocytosis occurs in 20-40percent of

patients who may manifest with symptoms such as

solone 15mg 12hrly x 5/7. The course interval was 21

days and a total of five courses were envisaged but drug

administration was erratic and patient compliance poor

due to financial constraints.

cough, tachypnoea and dyspnoea and a male predomi-

nance is observed as was seen in our patient. He pre-

sented with a triad of fever, cough and dyspnoea to-

gether with generalized lymphadenopathy and in par-

ticular, prominent cervical lymphadenopathy.

The patient did not show any remarkable clinical im-

provement and eventually succumbed to the disease six

months after presentation.

The chest x-ray did not help in distinguishing this dis-

ease condition from tuberculosis as nodular infiltration,

pleural effusion and pneumothorax are also known to

occur in histiocytosis. We had to rely on histology of

the biopsied lymph nodes and the bone marrow biopsy.

A major drawback in the management of this patient

was our inability to arrive at a definitive conclusion of

the type of histiocytosis which requires the use of elec-

Discussion

Histiocytoses as a group of disorders are very rare with

an incidence of 4-5.4/million population. Males are

tron microscopy and immunohistochemistry to do so.

more commonly affected than females with a male to

female ratio of 1.5:1. Our patient was male. The disease

Chemotherapyis used for multisystemic disease with

local or constitutional symptoms as was seen in this pa-

tient. The paucity in our diagnostic facilities coupled

with the patient’s financial incapacitation was responsi-

ble for the delay in onset of appropriate therapy and all

these contributed to the untimely demise of this young

patient.

is seen in all age groups with peak incidence in child-

hood seen between ages 1-3years. However, other stud-

ies have shown age₃ at diagnosis to range between nine

months to 15years with our patient falling into this age

bracket. Much effort has gone in₂to the elucidation and

classification of these disorders though their patho-

physiology remains an enigma. Factors which have been

implicated in the aetiology and pathophysiology of these

disorders include viral infections , cellular and immune

Conclusion

dysfunction genetic factors and neoplastic mechanisms

amongst others.

We present a case of a 7 year old boy with malignant

histiocytosis, which was eventually fatal despite chemo-

therapeutic intervention. Although histiocytosis is very

rare, it is of paramount importance that clinicians sus-

pect this disease as well as other neoplasms in all cases

of generalized lymphadenopathy and investigate these

patients appropriately.

Because of the multisystemic involvement that charac-

terizes them, they can clinically mimic several other

more common diseases with tuberculosis being a major

differential diagnosis in our environment. Perhaps due to

the rarity of this condition, histiocytosis was not among

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