International Day of Radiology 2014!

Let us celebrate the International Day of Radiology worldwide. Every year, each November 8 is all about radiology. This time is dedicated to brain imaging and it's global impact on healthcare. Last year was dedicated to chest imaging. This is an initiative of European College of Radiology-ECR,  American College of Radiology-ACR and Radiological Society of North America-RSNA.

There are a lot of ways you can cheer. Click on the link above and start spreading the celebration. All of us involved in medical imaging are included.





Happy Radiology Day!  #IDoR2014



http://www.internationaldayofradiology.com/

DX: Joubert Syndrome

This is a presumptive diagnosis and has to be evaluated by a Genetist.

Radiological features of Joubert Syndrome are:

Cerebellar Vermis aplasia or dysgenesis.
Decussation of the superior cerebellar peduncles are absent and those peduncles are elongated giving the appearance of molar tooth sign.
Dysplasia of cerebellar nuclei.


Here are the case features:

Aplasia of cerebellar vermis:

Elongation of superior cerebellar peduncles and molar tooth sign:

Most infants with Joubert syndrome have weak muscle tone (hypotonia) in infancy, which evolves into difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast or slow breathing in infancy and abnormal eye movements. Most affected individuals have delayed development and intellectual disability, which range from mild to severe. Distinctive facial features are also characteristic of Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth.

Here are some useful links:

http://ghr.nlm.nih.gov/condition/joubert-syndrome

http://radiopaedia.org/articles/joubert-syndrome-1

https://www.jewishgenetics.org/joubert-syndrome

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.

DX: Necrobiotic Xanthogranuloma

The first approach was to establish 2 or 3 differentials. The first one on my mind was Plexiform Neurofibromatosis that usually deforms face or skin. Other dermatologic conditions such as Keratoderma or Liquenoid keratosis are to be considered. This is why a good communication with the Dermatologist can be very helpful. A biopsy was conducted prior to reconstructive surgery.

Final diagnosis: Necrobiotic Xanthogranuloma

Necrobiotic xanthogranuloma is a rare disease, usually associated with a monoclonal gammapathy. It can affect skin mostly but organ involvement are reported.

On the left (A) a coronal reconstruction of my patient. On the right (B), a picture of a patient with similar skin nodules reported in a paper online (Girisha BS, Holla AP, Fernandes M, Noronha TM. Necrobiotic xanthogranuloma. J Cutan Aesthet Surg [serial online] 2012 [cited 2014 May 30];5:43-5. Available from: http://www.jcasonline.com/text.asp?2012/5/1/43/94341)



These are other examples:

http://www.ncbi.nlm.nih.gov/pubmed/12746671

http://www.ncbi.nlm.nih.gov/pubmed/19289757



Hope this was helpful, feel free to comment.

CASE 42: 43 y/o female. Follow up for face tumor

She started several years ago with right face swelling. No pain or infections whatsoever.

Here are the relevant images:

Differentials?...soon (I hope) the conclusión.

DX: Large Adrenal Myelolipoma

This could have another diagnosis if would had clear symptoms.  CT findings are consistent with a large right circumscribed adrenal mass with free borders and with predominantly fat content (Hounsfield units range from -75 to -122). It has some inner higher attenuations from glandular tissue but no calcifications.

Here are two spot images:

If patient were to have symptoms, an Adrenal adenoma has to be considered but take in consideration also Retroperitoneal Liposarcoma, Pheocromocytoma, and Adrenocortical Carcinoma. Usually, all of those mentioned have other concerning imaging features but not like this case. This has benign features.

These tumours were initially described by Giercke in 1905, and 24 years later, Oberling coined the team ‘myelolipoma’. Its inner content are of mature adipocytes and normal haematopoietic tissue. Although they do not represent a hematopoietic source, they contain precursors of white and red blood cells such as megakaryocytes.

Adrenal myelolipomas can be a site of extramedullary haematopoiesis. Although great numbers of incidentally discovered lesions are small and asymptomatic, reports in literature are not uncommon for cases of large symptomatic lesions such as this case. The most well-recognised complication of adrenal myelolipoma is spontaneous retroperitoneal haemorrhage but there is still some debate in management on whether needs surgical treatment if asymptomatic. Large myelolipomas tend to bleed so, surgical management is recommended in this case.


http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2843128/

http://emedicine.medscape.com/article/376700-overview#a20

http://www.casesjournal.com/content/2/1/8414


 Thank you for your comments on this case.

CASE 41: 29 y/o female patient with gastric problems

Patient reffered that she had gastic reflux (GERD) and was treated with proton pump inhibitors. She had some pain in the right upper quadrant and therefore was performed an hepatic US.

Findings of US (not shown) revealed a mass but in order to better assesment was reffered to us for an abdominal CT.

Here are the relevant images:

 

 

She had no other relevant symptoms or associated disease.

Findings?...later on, the conclusion.

CASE 40: Lukenschadel skull

In this case I chose not to include patient history because of the striking features of this condition that makes the radiological diagnosis straight forward.

Here are the relevant images in 3D volumetric format:

There are clusters of deep calvarial pits with steep edges and interspersed bony trabecular ridges that involve the inner table, diploe and the outer table. These changes are present at birth and can be normal and will spontaneously disappear by 4-6 months old, but not like this case in which craniosynostosis distorts calvariae with large and wide anterior fontanelae and stretched cavitas orbitalis. This cases are almost always associated with meningomyelocele or Chiari II malformation, so we have to dig deeper and search for those anomalies.


I've uploaded this and other cases on Radiopaedia.org be sure to check them also, here is the link:

http://radiopaedia.org/cases/luckenschadel-skull-4