CASE 44: 4y/o male patient with ataxia and failure to thrive.

This patient has intellectual disability  and progressive ataxia that are comprimising the overall development. Medical history reveals facial alterations but with no detail in what kind of alterations.

Pediatrician suspects a congenital disorder due to phenotypic characteristics but he also wants to rule out sequels of perinatal hypoxia.

Here are the relevant images:

Findings?...soon the conclusion.

DX: Posterior Staphyloma (presumptive) versus Euthyroid Graves Disease

Ok. The first approach in this case was to rule out Graves disease which can cause proptosis due to enlargement of orbital muscles, especially medial rectus muscle which in this case is normal. Also, features of Graves disease include retrobulbar increased fat deposition but with a patient euthyroid (normal thyroid hormones) are less common. But, there is an autoimmune condition when there is symmetrical or asymmetrical orbital proptosis, and with normal thyroid hormones which is a form of Graves Diesease called Euthyroid. Prevalence of this condition ranges between 1.6 and 8.6% (Br J Ophthalmol. 2009;93(8):1052).

Imaging findings in our patient revealed increased antero-posterior lenght in both orbital globes, mostly in the right one that has proptosis. Also, in association, progressive thining of sclero-uveal posterior coating. The thining is more diffuse rather than focal.

Here are the relevant images:

With these findings and normal thyroid levels one has to consider Posterior Staphyloma as the main differential. It is associated with severe miopia, past history of infections and mostly glaucoma. In our patient, miopia was present. Patient was referred to ophtalmoscopic examination.


Here are some useful links:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1311542/

http://radiopaedia.org/articles/staphyloma

http://www.medscape.com/viewarticle/715285


Thanks to Dr. Morales for your comment. All comments are welcome.

CASE 43: 67 y/o female with right ocular proptosis

This patient was suspected of having thyroid-associated orbitopathy (Graves) but currently she is euthiroid. No other relevant history. These are the images:

Findings?..again. Soon the conclusion.