Radiological Imaging in a Case of Arterial Tortuosity Syndrome.

Abstract

A 5 year old male child presented with complaints of easy fatigability, pallor, improper growth, easy bruisability and skin hemorrhages at few sites. He was referred to our hospital for the same. On clinical examination, the patient had micrognathia, enlarged head with frontal bossing , elongated face with extreme pallor. Lax skin with hypermobility of joints was seen. Routine blood investigations were done which showed anemia (HB-8.8 gm/dl), mild leukocytosis (TLC-14000) and low grade fever. Abdomen was tender on palpation Chest X-ray revealed mild cardiomegaly which was also present on ECG. ECG also showed abnormal vessels and few collaterals. CT aortography was advised which was done. Imaging Findings:-CT angiography was done on 128 multislice CT machine. It revealed presence of elongated and tortuous vessel in thorax and abdomen. Aorta was extremely aneurysmally dilated. Thoracic and abdominal aorta showed tortuous and lax coarse. All major cerebral and abdominal vessels were also tortuous. Few collaterals vessels were also in mediastinum near origin of major cerebral vessels.No abnormal venous channels were seen. No e/o concurrent hemorrhage seen.Associated mild hepatosplenomegaly seen in abdomen with small defect in anteromedial right sided diaphragm with Morgagni hernia with bowel loops as its content.Rest of the abdominal organs were normal.