|Year : 2001 | Volume
| Issue : 2 | Page : 121-123
Childhood proptosis: The invaluable, though often overlooked peripheral blood smear
Anita Sethi1, Supriyo Ghose2, Sumeet Gujral3, Paresh Jain3, Rajive Kumar3
1 MD, DNB, FRCS. Paediatric Ophthalmology Service, Dr. R.P. Centre for Ophthalmic Sciences, AIIMS, Ansari Nagar, New Delhi, India,
2 MD, MNAMS. Paediatric Ophthalmology Service, Dr. R.P. Centre for Ophthalmic Sciences, AIIMS, Ansari Nagar, New Delhi, India,
3 MD. Department of Laboratory Oncology, Institute of Medical Sciences, Ansari Nagar, New Delhi, India,
MD, DNB, FRCS. Paediatric Ophthalmology Service, Dr. R.P. Centre for Ophthalmic Sciences, AIIMS, Ansari Nagar, New Delhi, India
|How to cite this article:|
Sethi A, Ghose S, Gujral S, Jain P, Kumar R. Childhood proptosis: The invaluable, though often overlooked peripheral blood smear. Indian J Ophthalmol 2001;49:121-3
|How to cite this URL:|
Sethi A, Ghose S, Gujral S, Jain P, Kumar R. Childhood proptosis: The invaluable, though often overlooked peripheral blood smear. Indian J Ophthalmol [serial online] 2001 [cited 2013 Jun 20];49:121-3. Available from: http://www.ijo.in/text.asp?2001/49/2/121/22648
Proptosis in a child can often present a diagnostic dilemma. It would be wise for the examining ophthalmologist to keep in mind that the orbit could be of interest to a number of other specialists including neurosurgeons, otorhinolaryngologists, and hemato-oncologists. Several types of lesions may be seen in a case of proptosis in a child [Table - 1]. It is important to keep in mind a categorised differential diagnosis so that relevant investigations may be ordered to facilitate early treatment. One investigation that is very often overlooked in the rush to get a CT Scan or biopsy is a peripheral blood smear examination. This examination can establish the diagnosis of acute myeloid leukaemia (AML) in most cases of granulocytic sarcoma, even in the absence of systemic features.
We present two such cases of childhood proptosis who were referred for biopsy and CT Scan from district hospitals. Both were diagnosed as AML by us after peripheral blood smear examination. We would like to highlight the importance of this relatively inexpensive diagnostic tool. It is easily available even at district hospitals and can rapidly clinch the diagnosis of leukemia, facilitating timely therapy.
| Case 1|| |
A 9-year-old boy from Rajasthan presented with bilateral proptosis, more pronounced in the right eye than the left. The duration of proptosis was 3 months in the right eye and 2 months in the left eye. This was preceded by a moderate fever for 2-3 days. There was no history of weight loss, night sweats or joint pains. On examination the child was thin and irritable. There was pallor but no icterus. Two lymph nodes were palpable, one in the right pre-auricular region and one in the left submandibular. Both glands were 1 cm, non-tender, firm and mobile. There was no hepato-splenomegaly.
Ocular examination revealed bilateral proptosis [Figure - 1]. There was a firm non-tender mass palpable in the superomedial aspect of both orbits. The lids and the rest of the adnexa were normal. Visual acuity was 6/9 in both eyes. Ocular movements were mildly restricted medially in both eyes. The rest of the ocular examination revealed no abnormality. The fundi showed no signs of leukaemic retinopathy or papilloedema.
A probable diagnosis of a lymphoreticular malignancy was made which was confirmed by peripheral smear examination to be AML. The child was started on chemotherapy by the paediatric oncologists. After receiving 2 cycles there was some response. However, the patient then returned home and was lost to further follow-up with us.
| Case 2|| |
A 5½-year-old boy from Bihar presented with acute onset of left-sided proptosis of one month's duration, and associated pain and loss of vision over the last 3 days. Apart from a low-grade fever of 1-2 days duration, there were no systemic complaints. The child was frail, exhibiting mild pallor, but no other systemic abnormality could be detected. The right eye was normal on ocular examination. Vision in the left eye was no perception of light (NLP). There was marked proptosis in the forward and downward direction with gross conjunctival chemosis. There was a firm non-tender palpable mass in the supero-temporal aspect of the orbit; the posterior extent could not be reached. The cornea was sloughed out with pseudocornea formation. No other intraocular structures were visible.
The CT-scan of the orbit and brain, which had already been done, showed a well defined, enhancing mass lesion in the left supero-temporal orbit. The mass had a variegated appearance and was indenting the globe. On the basis of this a provisional diagnosis of rhabdomyosarcoma had been made elsewhere and the patient had been referred for biopsy and further management. Peripheral blood smear examination revealed a haemoglobin of 8.4%, total leucocytic count (TLC) of 7800 / mm3 and a platelet count of 46,000/mm3. Jenner-Giemsa stained peripheral blood smear examination showed 46% blasts [Figure - 2]. Blasts were morphologically myeloid and positive for myeloperodixase. Occasional Auer rods More Details were present, clinching the diagnosis of AML. Delay in diagnosis in the second case led to exposure of the cornea, resulting in an ulcer, perforation and eventual loss of vision. The child was then referred to the pediatric oncologists for further management including a bone marrow biopsy to confirm the sub-type of the leukaemia. On learning of the cost, duration and prognosis following treatment, the parents declined further therapy. This child also was unfortunately lost to follow-up.
| Discussion|| |
The paediatric orbit can be involved in many diseases, with varying and often puzzling clinical features. The younger the age, the more acute the onset and the more rapid the progression. These lesions may be ophthalmic or non-ophthalmic. Some of the commoner conditions are orbital cellulitis, dermoid cyst and haemangioma. However, primary malignancies like rhabdomyo-sarcoma as well as others secondary to AML and neuroblastoma, with grave systemic connotations, are not uncommon [Table - 1]. Diagnosis of such cases may be difficult - a combination of a good clinical examination and relevant investigations is essential for an early diagnosis and appropriate management as the treatment for each cause is essentially different.
Investigations that can be done include imaging studies (CT Scan, MRI, USG), pathology (aspiration cytology and biopsy) and haematological (haemogram, liver and kidney functions). Though imaging studies are of utmost importance in orbital mass lesions, it may not be the investigation of choice in conditions such as leukaemias.
AML is a disease of the bone marrow resulting in unregulated replication of myeloid cells. The proliferating cells spill over into the blood and then can be easily detected. Granulocytic sarcoma is a collection of leukemic blast cells which may appear at various sites including the orbit, sinuses, ovaries, testes and breasts. These myelogenous tumours constitute about 3% of the acute myelogenous leukemias which in turn account for 15-20% of all childhood leukaemias in most Western populations. The incidence of granulocytic sarcoma seems to be slightly higher in Africa and Asia. In a study of 86 Indian patients with AML, 8 (9.3%) were found to have orbital deposits in one or both eyes. All children had a high percentage of blasts in the blood and marrow. Further study is needed to determine the reasons for predisposition for granulocytic sarcoma in leukemic children in Africa and Asia.
In a study of 32 children with extra-medullary myeloid cell tumour done at our centre, 8 had been referred with the wrong diagnosis. None had undergone a peripheral smear examination and two had been incorrectly reported as histiocytosis on aspiration cytology. All were correctly diagnosed as AML by smear examination and / or bone marrow examination. The hematological features may vary with the stage of the disease [Table - 2]. The blood picture in our cases were quite typical - anaemia, thrombocytopenia, normal range TLC, and a large number of blasts and Auer rods.
The use of cytochemical stains such as myeloperoxidase and non-specific esterase, in both the peripheral blood smear and the bone marrow touch preparations, can help further type the leukemia. Immunophenotyping can be also be used for sub-typing AML in some cases.
Granulocytic sarcoma may either precede the systemic illness or be part of the presentation of a relapse. It is also known as chloroma due to a greenish hue that is seen on gross examination. The clinical picture in these cases is that of a rapidly developing unilateral or bilateral proptosis in a child. In the absence of systemic signs and symptoms, the presentation is similar to rhabdomyosarcoma and sometimes may even simulate orbital cellulitis. Often these children present first to an ophthalmologist who immediately orders a CT scan to localize the mass causing the proptosis. However, most cases of granulocytic sarcoma can be diagnosed on peripheral smear examination, which is widely available even in districts and is relatively inexpensive. In the rare case of aleukaemic leukaemia presenting with proptosis, a bone marrow biospy may clinch the diagnosis. When these patients are referred for CT scans and biopsies they have to spend a lot both for investigations and travel. In developing countries where cost is an important consideration in health care, this money could perhaps be better spent on the chemotherapy for AML. In retrospect, if the two cases described here had been correctly diagnosed at their local hospital, they could have been referred directly to an oncology centre. The time and money saved could possibly have improved the final outcome.
The prognosis of AML is still quite dismal. Untreated, the median survival is three months. Chemotherapy is the mainstay but even after successful induction, relapses are frequent. Though this is not a common disease, the relative ease of diagnosis of a grave condition makes it mandatory for all ophthalmologists to order a complete blood count in all childhood proptosis. A meticulous peripheral smear examination, followed by a bone marrow examination in relevant cases, must be included in the work-up for proptosis, particularly in children.
| References|| |
|1.||Malao M, Bagriche Y, Hamladji RM, Colonna P, Messerschmitt J. Comparison between acute myeloblastic leukemia in children and adults. Sem Hop 1977;53:911-15. |
|2.||Cavdar AO, Arcasoy A, Babacan E, Gozdasoglu S, Topuz U, Fraumeni JF Jr. Ocular granulocytic sarcoma ( chloroma ) with acute myelomonocytic leukemia in Turkish children. Cancer 1978;41:1606-09. [PUBMED] [FULLTEXT]|
|3.||Jaiprakash MP, Antia PK, Shetty PA. Extramedullary deposits in acute myelogenous leukemia. Indian J Cancer 1981;18:51-53. [PUBMED] [FULLTEXT]|
|4.||Ghose S, Kumar R, Chaudhuri S, Jain Y, Gujral S, Singh H, et al. Importance of bone marrow examination in childhood proptosis. Indian Ophthalmology Year Book 1997, ed Pasricha JK, Proc 55th All India Ophthalmol Soc Conf, New Delhi 1997. pp 414-16. |
|5.||Gujral S, Bhattarai S, Mohan A, Jain Y, Arya LS, Ghose S, et al. Ocular extramedullary myeloid cell tumour in children : an Indian study. J Trop Pediatr 1999;45:112-15. [PUBMED] [FULLTEXT]|
|6.||Jandl JH. Acute Myelogenous Leukemia. In: Jandl JH editor. Blood: Textbook of Hematology. 2nd ed. Little, Brown and Company, Boston, New York, Toronto, London; 1996. pp 853-901. |
[Figure - 1], [Figure - 2]
[Table - 1], [Table - 2]
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