A Rare Case of Congenital Orbital Cystic Neuroblastoma in an Infant

Abstract

Neuroblastoma, a relatively common tumor in infants, is rarely present at birth. A solid mass is the typical appearance of this neoplasm, while cystic formation is uncommon. Congenital cystic neuroblastoma is extremely rare and no previous report exists of its occurrence in the orbit. A newborn girl was referred with an extremely large mass on the right side of her face on the third day of her life. Prenatal ultrasonography had revealed a large mass (80 × 80 mm) in the frontal area. MRI revealed a heterogeneous mass composed of cystic and solid, contrast-enhancing components. Excisional biopsy was successfully performed and histopathologic diagnosis of neuroblastoma was confirmed. Systemic workup was negative for involvement of other organs and levels of catecholamine metabolites of serum and urine (homovanillic acid and vanillylmandelic acid) were normal. Postoperative course was uneventful with complete healing of the anophthalmic socket and normal physical and mental growth and development of the infant. To our knowledge, this is the first report of congenital cystic neuroblastoma primarily arising in the orbit.

Ophthalmologic Manifestations of Neuroblastoma: A Systemic Review

“…In the last 2 malignancies, the consistency of the tumor is firmer than in the case of NBL. 28 The orbit may rarely be the primary locus of the NBL, 26,27,47,61,71 and in contrast to the disease arising from the adrenals, it is resistant to chemotherapy and radiotherapy even at a young age. Hence, extended surgical treatment is necessary, which leads to unilateral blindness.…”

“…The incidence of the primary tumor localization in patients diagnosed with neuroblastoma, ganglioneuroblastoma, and ganglioneuroma according to the 84 analyzed case reports 9,10,12–14,16–18,21–31,33–39,44–53,55–62,64–66,68–79,81–84. AM indicates adrenal medulla; GN, ganglioneuroma; GNBL, ganglioneuroblastoma; NBL, neuroblastoma.…”

“…The incidence of opsoclonus-myoclonus syndrome and the associated symptoms in 68 children diagnosed with neuroblastoma, and 16 patients with ganglioneuroblastoma. Overall, there were 29 cases of opsoclonus-myoclonus syndrome 9,10,12–14,16–18,21–39,44–80. OMS indicates opsoclonus-myoclonus syndrome.…”

“…FIGURE 2. The association between the mean age of the Neuroblastoma patients and ophthalmologic manifestation according to our analysis of 65 case reports and Musarella et al[8][9][10][12][13][14][16][17][18][21][22][23][24][25][26][27][28][29][30][31][32][33][34][35][36][37] HS indicates Horner syndrome; OMS, opsoclonus-myoclonus syndrome. *Statistical significance.…”

“…The following ophthalmologic symptoms were reported in the medical literature: Horner syndrome (HS),7–12 heterochromia,9 anisocoria,13–15 tonic pupil,13 dilated pupils,13,16 relative afferent pupillary defect,17 ptosis,7,18–20 opsoclonus-myoclonus syndrome (OMS),7,8,20–23 nystagmus,15 strabismus,8,19 cranial nerve palsy,7,24 paralysis of the extraocular muscles,18,25,26 visual field loss,7 blindness,14,15 decreased visual acuity,25 proptosis (referred to as exophthalmos),7,8,18–20 periorbital ecchymosis (also known as “raccoon eyes”),7,8,18,20 palpable periorbital mass,20,25,27 eyelids edema,18,28 keratitis,7,29 chemosis,28,29 subconjunctival hemorrhage,30–33 hyphema,26,34 scleral26 or corneal nodules,31 nodular iris lesions,35,36 papilledema,16,18 optic neuropathy,7,37 choroidal metastases 30,38,39. It is worth bearing in mind that an interruption in the oculosympathetic tract may lead to HS, which manifests as unilateral ptosis, miosis, and anhidrosis 40.…”