The management of orbital disease in children

History

The age of onset, laterality (unilateral or bilateral), and the tempo of onset are important clues to the diagnosis. Uncertainty in parents about duration of symptoms such as proptosis suggest longstanding disease, and a review of old photographs may be helpful to determine duration.

Bilateral proptosis in early infancy is often due to shallow orbits in craniofacial malformations such as Crouzon, Apert or Pfeiffer syndromes (see Fig. 19.1 ). This can occasionally be unilateral, as in plagiocephaly. Usually, however, unilateral proptosis is due to the globe being displaced by a mass within the orbit.

Some masses, such as optic nerve glioma or dermoid cyst, grow slowly. Rapidly increasing proptosis suggests a metastatic deposit or rapidly growing tumor such as rhabdomyosarcoma. Rapid tumor growth may be associated with necrosis and hemorrhage, resulting in signs of inflammation and periorbital ecchymosis, potentially masking the diagnosis. The presence of bilateral ecchymosis is suggestive of metastatic neuroblastoma.

A catastrophic onset (within hours) implies hemorrhage within an often unsuspected pre-existing lesion, such as a venous-lymphatic malformation (lymphangioma). Occasionally, the onset of orbital cellulitis may be very sudden. It is usually accompanied by pain, local inflammation, and limitation of ocular motility in a child who is generally ill and febrile. The presence of clinically detectable orbital and periorbital inflammatory symptoms and signs in childhood is overwhelmingly associated with infection or non-specific orbital inflammatory disease. Although inflammation is part of the classical description of rhabdomyosarcoma, it is not typical, even though there may be a rapid onset of symptoms.

Most round-cell tumors in childhood, including rhabdomyosarcoma, granulocytic sarcoma (chloroma, or tumefactive extramedullary myeloid leukemia) and Ewing sarcoma, present as a mass developing over weeks in a subacute manner. Metastatic neuroblastoma can present with onset of proptosis over days.

An increase in proptosis with crying or straining is suggestive of infantile periocular hemangioma, venous malformations, or absence of the greater sphenoid wing (as in neurofibromatosis type 1 [NF1]) or in other forms of meningoencephalocoele. When very obvious, its presence helps to exclude malignancy as a cause of the proptosis.

Pulsating exophthalmos may be associated with congenital defects of the orbital wall (as seen in NF1 or meningoencephalocele). Occasionally, large periocular infantile hemangiomas (capillary hemangiomas) pulsate due to their rich arterial blood supply, as may high-flow arteriovenous malformations, though the latter are rare in childhood and more common in adolescence or early adulthood.

Skin discoloration may offer a clue to the underlying etiology. Red is suggestive of the arterial supply of infantile periocular hemangioma, which, when superficial to the orbital septum, almost invariably involves the overlying skin. When deep, these may have a blue or purple hue. Venous or venous-lymphatic malformations (lymphangiomas) appear blue or purple, as do some cystic lesions, lacrimal or conjunctival cysts. Some cystic lesions, for instance the cysts associated with colobomatous microphthalmos, are bluish but transilluminate with a focal light. The brownish cutaneous discoloration of hemosiderin is usually caused by previous bleeds into a venous-lymphatic malformation (lymphangioma) or, rarely, by metastatic neuroblastoma. Both of these may present with spontaneous ecchymosis.

Children with blunt orbital trauma and orbital wall fractures with muscle entrapment or tethering may present with severe restrictive strabismus and symptoms of vagal stimulation such as nausea, vomiting, and hypotension, often induced by attempted eye movements. The absence of external signs of orbital trauma may make the diagnosis less obvious ( Fig. 19.6 ).