Niger J Paed 2012; 40 (1): 91 –92  
Okpokowuruk FS  
Umana IN  
Adesina OA  
Histiocytosis in a 7 year old boy, a  
diagnostic dilemma.  
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  
Okpokowuruk FS  
Adesina OA  
Department of Paediatrics,  
Umana IN  
Department of Pathology,  
University of Uyo Teaching Hospital,  
Uyo, Akwa Ibom State. Nigeria.  
Key words: Histiocytosis, tubercu-  
losis, diagnostic facilities.  
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  
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-  
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  
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  
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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