British Journal of Radiology 75 (2002),191-192 © 2002 The British Institute of Radiology
Congenital unilateral proptosis
N A Lacey, FRCR
1
S McWilliams, FRCR
1
W Jan, FRCR
2 and
J B Bingham, FRCR
2
1Radiology Department, Guy's Hospital, St Thomas' Street, London SE1 9RT and 2Department of Radiological Sciences, Guy's, King's and St Thomas' Medical School, UK
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Introduction
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A full term female infant was born by normal vaginal delivery following an uncomplicated pregnancy. Antenatal ultrasound had shown no abnormality. At birth, the right eye was almost completely extraorbital and rested directly on the cheek. The eye movement was congruent but very restricted. Manual reduction of the proptosis failed. No other physical abnormalities were identified. CT (Figure 1
) and MRI (Figure 2) of the orbits and head were performed. What is the differential diagnosis? What is the most probable diagnosis?
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Answer
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Unenhanced CT shows a calcified mass behind the globe. The optic nerve is displaced medially but the rectus muscles and globe appear normal. The superior orbital fissure is widened, indicating probable posterior extension. MRI confirmed the presence of an enhancing retrobulbar mass separate from the brain, thus excluding encephalocele as a diagnosis. The mass extended through the superior orbital fissure and into the cavernous sinus.
The differential diagnosis at this stage includes congenital tumour such as teratoma or neurofibroma, both of which can extend through the superior orbital fissure. Congenital anomalies such as dermoids, microphthalmos with cyst, encephaloceles, lymphangiomas, neoplasms such as rhabdomyosarcoma, and other conditions such as retrobulbar haemorrhage and vascular malformations [1] should be considered. Neuroblastoma presents in the older child. Encephaloceles are usually midline, with an associated bony defect but without calcification. Capillary haemangiomas grow rapidly in the first 6 months of life and imaging shows a poorly defined enhancing retrobulbar mass, which may even demonstrate flow voids on MRI. Cysts are associated with a coloboma and, if large, lead to microphthalmos.
At subsequent surgery, the tumour was densely adherent to the cavernous sinus and orbital apex, heavily calcified and difficult to resect. Histology of the tumour showed it to be a mature teratoma. The baby recovered satisfactorily post-operatively, but the amount of useful sight retained in the eye is uncertain at this stage.
Proptosis at birth is unusual and congenital teratoma is one of the least common causes [2]. Congenital orbital teratomas are twice as common in females and have a slight left-sided preponderance [3]. Rapid growth causing filling and enlargement of the orbit in an otherwise healthy newborn, leading to destructive proptosis and exposure keratopathy, is the usual presentation of orbital teratomas [3]. Slower growing teratomas occasionally present in adults and older children. The eye itself is usually normally developed but can be damaged by exposure or compression.
Histologically, teratomas contain tissue derived from all three embryonic germ cell layers and are usually benign despite their rapid growth rate, with only a few reported cases of malignancy [4]. They typically have cystic as well as solid elements and may be partially calcified or ossified. As in this case, teratomas can extend into the periorbital sinus or through the superior orbital fissure.
Pre-operative cross-sectional imaging is crucial. CT is required to assess the presence of calcification to differentiate teratomas from other congenital orbital lesions and to define the bony anatomy. MRI has only rarely been reported in the diagnosis of this tumour, reflecting the low incidence of this condition [5].
Early surgical removal is the treatment of choice owing to the risks of rapid growth leading to necrosis, haemorrhage and rupture of the globe. Some case reports have related early surgery to preservation of visual acuity [6], which has rarely occurred with only 10–15 reported cases.
Received for publication November 21, 2000.
Accepted for publication December 5, 2000.
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References
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Simple management of isolated proptosis at birth
Arch. Dis. Child. Fetal Neonatal Ed.,
May 1, 2005;
90(3):
F234 - f234.
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