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Congenital proptosis is a very rare manifestation in neonates. A variety of malignant neoplastic, benign neoplastic, cystic, and vascular etiologies have been associated with proptosis at birth.
The authors report a rare case of isolated unilateral congenital proptosis associated with infantile cortical hyperostosis (ICH) in an otherwise healthy neonate. Written consent has been obtained from the parents for publication of the medical photography included in the article.
A full-term male infant born by caesarian section at 40 weeks of gestation after an uncomplicated pregnancy was noted to have a prominent right eye at birth. There was no family history of note except a cousin with congenital cataract. Clinical examination showed right proptosis (Fig. 1A) and hypotropia. The rest of the ocular examination was normal.
Fig. 1(A) Right proptosis at birth. (B) Clinical appearance at 5 months of age.
On day 2, the baby had a magnetic resonance imaging (MRI) scan done under sedation, but the quality was degraded by movement artifact. Systemic evaluation by neonatologists and pediatricians did not reveal any co-pathology. Findings of a series of investigations, including full blood count, renal and liver function, calcium, phosphate, magnesium, lactate dehydrogenase, human chorionic gonadotropin, homovanillic acid, and urinary vanillylmandelic acid, were normal. Abdominal ultrasonography was also unremarkable with no evidence of suprarenal masses.
Five weeks later, the proptosis had remained unchanged. A repeat MRI scan showed a homogenous ill-defined lesion related to right orbital apex, posterior ethmoid, and pterygopalatine region of unclear nature (Fig. 2A). A computed tomography (CT) scan confirmed soft tissue entity centred upon posterior ethmoid air cells, pterygoid palatine fossa, and inferior aspect of orbital apex with some bone destruction (Fig. 2B). Radiologic differential diagnosis included sarcoma and fibrous dysplasia.
Fig. 2(A) Axial MRI showing soft tissue lesion centred upon posterior ethmoid air cells, pterygoid palatine fossa, and inferior aspect of orbital apex (arrow). (B) Coronal computed tomography showing some bone destruction. (C) Repeat MRI at 5 months of age demonstrates a decrease in size of the mass lesion. (D) MRI at 9 months of age: persistence of the residual lesion related to right orbital apex, posterior ethmoid, and pterygopalatine region. MRI, magnetic resonance imaging.
At this stage, an endoscopic trans-nasal biopsy was performed. The sample showed curvilinear bony trabecula admixed with bland fibrous tissue. The ancillary immunohistochemical stains for S100, pan-cytokeratin, epithelial membrane antigen, or beta catenin revealed no positivity in the spindle cells. Embryonal rhabdomyosarcoma, a typical childhood cancer, was excluded by histomorphology and confirmed by negative immunohistochemical stains for desmin, myogenin, and MyoD1. The proliferation marker Ki67 was below 5%. Overall, there was no evidence of malignancy. The differential diagnoses of fibrous dysplasia or cranial fasciitis were also considered; however, the histologic appearance of a reactive periostitis is not specific but most in keeping with an ICH (Fig. 3) affecting just the orbit.
Fig. 3(A) Microscopy shows curvilinear bony trabecula with spaces occupied by fibrous stroma with bland spindle cells (hematoxylin and eosin stain, ×50). There is no evidence of an acute inflammation or malignancy. (B) Bony trabecula with osteoblastic rimming (arrow) (hematoxylin and eosin stain, ×100).
At 5 months of age, some improvement of the appearance was noted (Fig. 1B), and MRI showed a decrease in the size of the lesion (Fig. 2C). A repeat CT found no further bony destruction, nor any new foci of disease.
One month later, steroid therapy was commenced to treat the residual lesion and minimize the risk on visual development. The baby was treated with oral prednisolone 1 mg/kg and then a tapering regimen by the same on a weekly basis and ranitidine 1 mg/kg. In total, he had 8 weeks of treatment, which he tolerated well with no complications. However, this did not seem to result in any significant change in proptosis clinically. MRI at 9 months of age showed persistence of the residual lesion (Fig. 2D).
ICH is a self-limited disorder that is classically characterized by a triad of bone changes, soft-tissue swelling, and irritability. It affects as many as 3 per 1000 infants in the first 6 months of life, although congenital and in utero cases have also been described. The average age of onset is 9–10 weeks. Various forms of ICH are recognized, with the majority of cases being sporadic, but a few familial cases with autosomal-dominant and autosomal-recessive patterns have also been reported. There is no sex or race predilection. Among the proposed etiologies are infections, immunologic disorders, and genetic disorders.
Pathogenesis is considered to be due to an inflammatory process of unknown origin. The early stage is characterized by inflammation of the periosteum and its adjacent soft tissues. As this resolves, the periosteum remains thickened and subperiosteal immature bone formation is noted. In later stages, the hyperplasia of the lamellar cortical bone without inflammation or periosteal changes is observed.
There are reports of ICH affecting just the orbit, although the mandible and zygoma are most commonly affected in the head and neck. Ophthalmic manifestations of ICH include periorbital swelling and edema, unilateral proptosis, chemosis, and conjunctival hyperemia. Many cases are misdiagnosed and treated as orbital cellulitis, angioedema, or even dacryocystitis.
Minton and Elliot studied retrospectively 24 cases with mandibular involvement, which revealed that 33% (8 of 24 cases) developed significant swelling and edema around the orbits between 7 weeks and 4 months of age and only 1 case exhibited exophthalmos.
No report of congenital presentation of orbital disease is detected in the literature.
Typical radiologic findings include soft tissue swelling (majority of the cases), subperiosteal new bone formation with characteristic periosteal layering, and cortical thickening (cortical hyperostosis). MRI is useful in detecting inflammatory signals in adjacent soft tissue and in the bone marrow. Ultrasonography may also help to diagnose the prenatal cases, showing similar appearance to osteogenesis imperfecta.
The histology of ICH is not specific, and biopsies show periostitis as in this case.
Prognosis is generally favourable, with the majority of cases having spontaneous resolution by the age of 6–9 months without major sequelae. Recovery may follow a rapid, chronic, or relapsing and remitting pattern. In the first 6 months of life the condition is normally managed conservatively and is self-limiting. However, corticosteroids may be a therapeutic option for those with fulminating, chronic, or recalcitrant disease.
This case represents the first report of Caffey’s disease with orbital involvement present at birth. The clinicoradiologic findings and histopathologic evidence of reactive periosteum were suggestive of Caffey’s disease. The localized destruction of the ethmoid bone was a rather atypical radiologic finding, not encountered in the previous reports of ICH affecting the orbital bones. However, there are a few reports of Caffey’s disease with lytic lesions affecting the skull base, occipital bone, and long bones.
In conclusion, clinicians should be aware of ICH as a potential cause of congenital proptosis. Swelling of soft tissue may precede the bony changes, and clinical correlation with imaging is advised. Conservative approach with observation and serial imaging represents the mainstay of management. Steroid therapy may be considered in chronic and recurrent cases.
References
Erickson B.P.
Tse D.T.
Management of neonatal proptosis: a systematic review.
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