An unexpected presentation of very severe hypertriglyceridemia in a boy with Coffin-Lowry syndrome: a case report.

BACKGROUND: Coffin-Lowry syndrome (CLS) is a rare X-linked condition with intellectual disability, growth retardation, characteristic facies and skeletal anomalies. To date, hypertriglyceridemia has not been reported in literature to be associated with CLS. CASE PRESENTATION: Herein, we report a case of very severe hypertriglyceridemia 32 mmol/L (2834 mg/dL) detected incidentally at three months old in an otherwise well boy born late preterm with intrauterine growth restriction, when he presented with lipaemic plasma. He was later diagnosed with CLS. No pathogenic mutations were found for hypertriglyceridemia, and no secondary causes could explain his very severe hypertriglyceridemia. CONCLUSIONS: The very severe hypertriglyceridemia in this case may appear to be a serious presentation of an unrecognised clinical feature of CLS, further expanding its phenotype.

The Role of Non-Contrast CT in the Diagnosis of a Rare Cause of Small Bowel Obstruction Due to Bezoar

@#Contrast Enhanced CT Abdomen is usually used to investigate the source of the small bowel obstruction. A 13-year old girl presented with signs of small bowel obstruction and was complicated with acute renal injury. Non-contrast CT Abdomen showed findings consistent with bezoar, and the findings are similar to the features seen in a contrast study. This case shows that both the plain and the contrast CT abdomen give similar findings of bezoar, one not inferior to the other.

Dilemma in Diagnosing Malignant Pleural Mesothelioma with Atypical Clinical Presentation and Imaging Findings : Recurrent Chylothorax, Mediastinal Lymphadenopathies and Pulmonary Embolism

@#Malignant pleural mesothelioma (MPM) is a rare malignant tumor affecting the mesothelium. It commonly manifests as pleural thickening on contrast enhanced CT (CECT) thorax. We reported a case of a young lady who presented with respiratory symptoms and was initially treated as pneumonia. However, she had recurrent episodes of chylothorax with progressive internal jugular vein (IJV), brachiocephalic vein and superior vena cava (SVC) thrombosis leading to pulmonary embolism, associated with extensive mediastinal and supracalvicular lymphadenopathies. There are no evidence of pleural thickening in the initial investigations. Our case highlighted that MPM must remain in the differential diagnosis for these presentations, albeit rare.

Sternal Cleft With Coarctation of Aorta and Vascular Anomalies - Learning Point in Young Stroke

@#Sternal cleft is a rare congenital anomaly that is known to be associated with other congenital abnormalities in particular coarctation of aorta and vascular anomalies. We present a case of a young teacher who presented with recurrent episodes of ischemic stroke. During the workup to look for the cause of stroke, it was discovered that this patient had complete midline sternal cleft with underlying coarctation of aorta and left subclavian artery aneurysm. We wish to highlight the relation between the presence of sternal cleft and coarctation of aorta as well as vascular anomalies as one of the rare cause of young stroke.

Radiological Study of the Ethmoidal Arteries in the Nasal Cavity and Its Pertinence to the Endoscopic Surgeon.

We studied the ethmoidal arteries using preexisting computer tomography of the paranasal sinuses (CT PNS) and statistically scrutinized data obtained between genders. A descriptive study from 77 CT PNS dated January 2016-December 2016 were collected and reviewed by two radiologists. A total of 54 (108 sides) CT PNS were studied of patients aged 18-77 years. 37 are male, 17 are female; with Bumiputera Sarawak predominance of 25 patients, 12 Malays, 16 Chinese and one Indian. Rate of identification are as follows: anterior ethmoidal artery (AEA)-100%, middle ethmoidal artery (MEA)-30%, posterior ethmoidal artery (PEA)-86%. The average distance from AEA-MEA is 8.1 ± 1.52 mm, MEA-PEA is 5.5 ± 1.29 mm and AEA-PEA is 12.9 ± 1.27 mm. The mean distance from PEA-the anterior wall of sphenoid is 7.7 ± 3.96 mm, and PEA-optic canal is 8.5 ± 3.1 mm with no statistical difference when compared between gender. AEA frequently presented with a long mesentery 57.4%, while 87.1% of PEA was hidden in a bony canal. The vertical distance of the AEA-skull base ranges from 0 to 12.5 mm whilst PEA-skull base is 0-4.7 mm. There is no statistical difference in distances of AEA, MEA nor PEA to skull base when analyzed between genders; t(82) = 1.663, p > 0.05, t(32) = 0.403, p > 0.05 and t(75) = 1.333, p > 0.05 respectively. We newly discovered, that 50% of MEA is hidden in a bony canal, and its distance to skull base ranged 0-5.3 mm. MEA and PEA less commonly have a short or long mesentery. Knowledge on the ethmoidal arteries especially in our unstudied population of diverse ethnicity, gains to assist surgeons worldwide, when embarking in endoscopic transnasal surgeries.