Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome characterized by posterior rib ossification gaps and orofacial anomalies. Posterior rib ossification gaps are the hallmark of the disease and mimic multiple old rib fractures. The condition is caused by heterogeneous mutation of Small Nuclear Ribonucleoprotein Polypeptides B and B1 (SNRPB) gene on the chromosome 20p13. There is scanty literature regarding the extent of bony changes and the associated pulmonary-airway abnormalities on computed tomography (CT) imaging. In this case report, we presented a detailed CT imaging features of a case of CCMS in a male infant. This report highlighted on the nature of osseous defects, structural changes in the chest wall, airways, lungs, and a wide range of spinal anomalies. Some of our observations regarding the changes in the airway and chest wall are likely to have bearing on evaluating the prognosis and the need for respiratory support.
An elderly otherwise healthy male presented with a mass in thigh. Fine needle aspiration cytology (FNAC) revealed features of papillary carcinoma of thyroid, suggesting secondary deposits. Later the patient was clinically evaluated. There was no obvious thyromegaly both clinically and sonologically. The patient was followed up. One month after initial presentation, he came with an enlarged cervical lymph node and a tiny nodule in thyroid. FNAC from both the thyroid and cervical lymph node showed identical features of papillary carcinoma.
Retroperitoneal tumours are fairly common though they may present as a diagnostic puzzle as a result of non-specific clinical features. The study reviewed all patients who are clinically diagnosed and radiologically confirmed as retroperitoneal tumours and managed. A total of 25 patients were analyzed, age ranged from 25 to 70 years, with peak age group was 30 -40 years with male to female ratio of 1.27:1. The most common presentation is abdominal lump. Most of the retroperitoneal tumours are soft tissue sarcoma.
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