Presentation
Per referring physician, term-baby with blindness, deafness, subsequent development of hypotony, mental slowing. Also has cleft lip/palate, cardiac and genitalia anomalies. Denies any lengthy oxygen therapy or family history of similar disorders. Here with outside diagnosis of likely retinoblastomas.
Patient Data
Bilateral, mild-moderate left, and moderate-severe right (essentially phythisis bulbi) microopthalmia with optic nerve atrophy, and posterior bulging/coloboma-staphyloma. Bilateral lens degeneration. Bilateral retinal detachments, with mostly non-enhancing funnel shaped T2 hypointensity along the posterior vitreous. There is however a nonspecific small focus of T2 intermediate signal along the right temporal leaflet anteriorly, which shows nodular enhancement. Bilateral abnormal posterior globe wall thickening and retro-ocular T2 hypointensity, which shows mild-moderate, irregular postcontrast enhancement. Evaluation for any diffusion restriction is limited on the large FOV DWI sequence.
Bilateral nonspecific smooth left, greater than right, retrolental enhancement is present on more delayed imaging, and also nonspecific suggested smooth bilateral optic nerve enhancement. The superior ophthalmic veins show flow signal, and the cavernous sinuses are grossly symmetric and unremarkable.
The choanae may be narrowed, but better evaluated with CT.
A 0.5cm AP x 0.4cm CC pineal cystic focus is present, without visible nodularity pre-contrast, but shows diffuse internal post-contrast enhancement.
There is side-to-side asymmetry of the cranial vault, and the cerebral hemispheres, and also right larger than left lateral ventricles. Normal myelination signal for age, and no significant periventricular leukomalacia or significant volume loss. Grossly normally formed other midline structures such as the corpus callosum, and pituitary gland. No visible acute intracranial bleeding, recent infarct, significant focal mass effect, or hydrocephalus. Incidental note of dominance of the left posterior dural venous sinuses, and relative hypoplasia on the right, and relatively prominent adjacent scalp/transcranial veins.
Mild bilateral paranasal sinuses mucosal thickening. Rightward nasal septal deviation. Moderate adenoidal prominence.
Case Discussion
Underlying chronic bilateral orbital deformities (coloboma/staphyloma, microphthalmia, cataracts, optic nerve atrophy) and retinal detachments. In a patient with a reported history of cleft lip/cleft palate, cardiac and genitalia anomalies and deafness, the constellation of findings is most suggestive of CHARGE syndrome (associated with eccentric colobomas).
Another possibility of bilateral retinoblastomas is felt less likely as the calcifications on outside CT appear punctate and eccentric to the posterior globe enhancement, and the enhancement is not particularly bulky. An enhancing subcentimeter pineal cystic focus is also possibly incidental, without clear nodularity/diffusion restriction to suggest a pineoblastoma, though very non-specific at this point. If the plan is not for any enucleation, clarification should be made with clinical history/exam, genetic testing (RB1, CHD7 mutations) and/or short-term follow-up imaging, given the markedly different management this possibility entails.
Other differential considerations, less favored, include bilateral persistent hypertrophic vitreous humor (PHPV), as can be seen with the rare Norrie disease/NDP mutation ( is a rare X-linked congenital bilateral blindness with possibly a retinal mass (pseudoglioma) and cataracts and associated with hearing loss and developmental delay)– though even rarer in females, pre-/perinatal inflammatory/infectious insult, retrolental fibroplasia (unlikely as reportedly no history of prematurity or perinatal oxygen therapy).
The main syndromic coloboma differential diagnosis is:
- Morning glory syndrome: bilateral coloboma with midline congenital anomaly.
- Jacobsen syndrome: coloboma as a part of constellation of multiple facial deformities as well as developmental delay, congenital heart disease and bleeding dyscrasia.
- The basal cell nevus syndrome, also known as Gorlin-Goltz syndrome: coloboma, craniofacial anomalies including odontogenic keratocyts as well as multiple basal cell carcinoma at puberty, medulloblastoma and cardiac fibroma.
- Treacher Collins syndrome, also known as mandibulofacial dysostosis.
The case is courtesy of Dr Hassana Ibrahim and Dr Mohammad A. ElBeialy.
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