|Year : 2014 | Volume
| Issue : 1 | Page : 33-35
Childhood proptosis: A case of missed diagnosis
Snehal R Thakre, Jyotika P Mishrikotkar, Sheetal U Wankhede, Supriya A Deshpande
Department of Ophthalmology, MGM Medical College, Aurangabad, Maharashtra, India
|Date of Web Publication||16-Aug-2014|
Snehal R Thakre
Department of Ophthalmology, MGM Medical College, N-6, CIDCO, Aurangabad - 413 006, Maharashtra
Proptosis in childhood can be a diagnostic dilemma. We present a child who came with subacute onset, bilateral and asymmetric proptosis. He was diagnosed to have pseudotumor on the basis of imaging studies and started on systemic steroids. He responded partially, only to have a recurrence few weeks later. Baseline blood investigations showed a substantial drop in hemoglobin. Peripheral blood smear (PBS) showed atypical cells suggestive of leukemia. A bone marrow biopsy confirmed acute myeloid leukemia. The case illustrates an extra-ocular, systemic cause of proptosis, which was missed on initial presentation. The clue to the diagnosis was clinched on simple baseline tests such as hemoglobin and PBS. An extra-ocular cause, though uncommon, should always be considered in evaluation for every childhood proptosis to prevent delayed diagnosis.
Keywords: Child, extra-ocular cause, peripheral blood smear, proptosis
|How to cite this article:|
Thakre SR, Mishrikotkar JP, Wankhede SU, Deshpande SA. Childhood proptosis: A case of missed diagnosis. Sudanese J Ophthalmol 2014;6:33-5
|How to cite this URL:|
Thakre SR, Mishrikotkar JP, Wankhede SU, Deshpande SA. Childhood proptosis: A case of missed diagnosis. Sudanese J Ophthalmol [serial online] 2014 [cited 2020 Jul 8];6:33-5. Available from: http://www.sjopthal.net/text.asp?2014/6/1/33/138850
| Introduction|| |
Proptosis in children may be due to ocular (retinoblastoma, rhabdomyosarcoma and orbital cellulitis) or extra-ocular (secondaries due to systemic malignancies, such as lymphoid tumors, leukemias and neuroblastoma) etiology. , A systematic approach is essential for the proper diagnosis of the underlying cause. We present a case of childhood proptosis, which posed a clinical dilemma.
| Case report|| |
A 5-year-old boy, presented with the complaints of forward protrusion of, watering and pain in right eye since 10 days. Examination showed gross facial asymmetry. Right eye showed axial, non-pulsatile proptosis, with no bruit or thrill. Distance between lateral canthus and corneal apex was 30 mm, lids were edematous, conjunctiva was congested and chemosed temporally. Rest of the anterior segment was unremarkable. Ocular movements were restricted superiorly and laterally [Figure 1].
|Figure 1: Child at presentation showing axial proptosis. Child also has a toxic look|
Click here to view
In the Left eye, anterior segment was unremarkable but distance between lateral canthus and corneal apex was 15 mm. Ocular movements were full in all directions of gaze. Fundus was normal in both eyes. Child did not cooperate for examination of visual acuity.
Blood investigations revealed anemia with normal total leucocytic count and subclinical thrombocytopenia. Computed tomography (CT) orbit showed soft tissue homogenous enhancing well-defined lesion in the supero-lateral of right eye - 3 cm by 2.3 cm with anterior and downward displacement of right eye ball and mass effect on right lateral rectus and right optic nerve. Left orbit showed a similar soft-tissue homogenous well-defined lesion 1.6 cm by 1.7 cm in size with associated thickening of the lateral aspect of the left globe.
Child was diagnosed to have bilateral inflammatory pseudotumor and treated with systemic steroids (1 mg/kg body weight), anti-inflammatory drugs and hematinics. A pediatric consult was made. The child showed response to the treatment and proptosis reduced 3 weeks later, in right eye had reduced to 13 mm and in left eye to 12 mm [Figure 2]. At 1 month later he came with progressive bilateral propotsis (20 mm in right eye and 16 mm in left eye).
Repeat CT Orbit showed persistent mass in both the orbits. The repeat complete blood count showed a significant drop in Hb to 4.9 g%. Peripheral blood smear (PBS) was ordered and it showed atypical cells suggestive of leukemia. A bone marrow biopsy revealed acute myeloid leukemia (AML).
A final diagnosis of bilateral asymmetric proptosis secondary to extra-ocular systemic cause of AML and the child referred for oncology care.
|Figure 2: Child after a course of systemic steroids. The proptosis in the right eye has reduced, but not disappeared totally|
Click here to view
| Discussion|| |
Proptosis in children is an uncommon cause of ocular morbidity. Orbital etiology is a common cause of childhood proptosis.  Malignancy, ocular or extra-ocular is the commonest cause of childhood proptosis. , Our case was diagnosed to have bilateral asymmetric proptosis secondary to an extra-ocular etiology of AML.
In the study by Bajaj et al., out of 119 children of childhood proptosis, orbital rhabdomyosarcoma and retinoblastoma with orbital spread were the most common causes.  Ghosh et al. in their series of 260 cases of AML reported it to occur in 62 (23.8%) children.  Acute leukemia in children is mostly due to acute lymphoblastic leukemia, however our child had a rare form of childhood leukemia, i.e., AML.
Proptosis is a rare mode of primary presentation of AML. Orbital and ocular lesions are the third most frequent extramedullary locations of acute leukemia.  Chefchaouni reported 196 children treated for leukemia, of which only 6 had AML and only 4 had proptosis (2%).  Though there are 33 ocular anomalies listed in leukemia, proptosis is very rare. , Myelogenous leukemia very rarely gives rise to an orbital infiltration. ,
In our case study, a diagnosis of bilateral pseudotumor was made initially, based on the imaging study. Murthy et al. in a series of 12 patients of childhood proptosis subjected 4 patients to an incision biopsy at the first instance and this led to the diagnosis of systemic leukemia. In 8 patients seen thereafter, they established the diagnosis solely based on the peripheral smear. If the diagnosis can be established on a non-invasive test like a PBS, one can avoid surgical intervention. They concluded that PBS should be performed in all cases of sudden onset proptosis or an orbital mass in children and young adults along with an orbital biopsy.  It can always be complemented with a bone marrow biopsy especially in cases of a leukemia or when the blood smear is inconclusive. , PBS and bone marrow biopsy were the investigation, which led us to actual cause of the proptosis in our patient.
In our case in view of recurrence of bilateral proptosis, re-evaluation done revealed significant anemia, which led a PBS showing atypical cells suggestive of leukemia. A bone marrow biopsy done confirmed the diagnosis of AML. In our case study, anemia at presentation was ignored and no evaluation was done to define the etiology of anemia. It was on subsequent follow-up with significant drop in hemoglobin, peripheral smear was asked for.
The case illustrates a delayed diagnosis on our part, of AML as a cause of bilateral proptosis.
| Conclusion|| |
Our case illustrates a diagnostic dilemma posed by a case of childhood proptosis. An extra-ocular cause of proptosis can be diagnosed with simple, baseline test like the peripheral smear which should not be missed, in this era of highly sophisticated technology.
| References|| |
|1.||Bajaj MS, Pushker N, Chaturvedi A, Betharia SM, Kashyap S, Balasubramanya R, et al. Orbital space-occupying lesions in Indian children. J Pediatr Ophthalmol Strabismus 2007;44:106-11. |
|2.||Jha BK, Lamba PA. Proptosis as a manifestation of acute myeloid leukaemia. Br J Ophthalmol 1971;55:844-7. |
|3.||Ghosh S, Shinde SC, Kumaran GS, Sapre RS, Dhond SR, Badrinath Y, et al. Haematologic and immunophenotypic profile of acute myeloid leukemia: An experience of Tata Memorial Hospital. Indian J Cancer 2003;40:71-6. |
|4.||Charif Chefchaouni M, Belmekki M, Hajji Z, Tahiri H, Amrani R, El Bakkali M, et al. Ophthalmic manifestations of acute leukemia. J Fr Ophtalmol 2002;25:62-6. |
|5.||Panda A, Dayal Y. Acute proptosis in myeloid leukaemia. Indian J Ophthalmol 1984;32:239-41. |
|6.||Sethi A, Ghose S, Gujral S, Jain P, Kumar R. Childhood proptosis: The invaluable but overlooked peripheral blood smear. Indian J Ophthalmol 2001;49:121-3. |
|7.||Chatterjee BM, Sen NN. Acute myeloid leukaemia with leukaemic deposit in the orbit. Br J Ophthalmol 1960;44:440-2. |
|8.||Murthy R, Vemuganti GK, Honavar SG, Naik M, Reddy V. Extramedullary leukemia in children presenting with proptosis. J Hematol Oncol 2009;2:4. |
[Figure 1], [Figure 2]