Nabais Sa-de Vries syndrome (NSDVS) is a neurodevelopmental disorder first described in 2020. The syndrome is caused by de novo missense mutations in speckle-type pox virus and zinc finger protein (SPOP) on chromosome 17q21. In this report, we present a four-year-old girl who had microcephaly, a long face, a wide and thick arched eyebrow, widely spaced eyes, a prominent and wide nasal bridge, a wide and bulbous nasal tip, micrognathia and pointed chin. She also had microcytic hypochromic anemia. Her clinical features are suspected of NSDVS1 and thalassemia along with refractory iron deficiency anemia. Genetic evaluation confirmed the presence of both SPOP and hemoglobin gene mutations. The concurrence of both genetic mutations and above hematological manifestations has not been reported previously thus further studies are needed to better understand the associated mechanisms and disease course involved.

A 27-year-old man was admitted with a penetrating injury at the mid-manubrium. Computed tomographic (CT) angiography showed a filling defect in the aortic arch. This was evaluated as a sign of injury and the patient underwent an emergency operation. No active bleeding or clot was found in the mediastinum during the operation. The laceration point was between the innominate and the left carotid artery posteriorly. The injury was approached using hypothermic circulatory arrest. Aortotomy and exploration showed a 2-cm-long full-thickness aortic injury with an overlying clot. A filling defect on angiography as a sign of a penetrating arch injury has never been reported previously, but was the main pathological finding on CT angiography in our case. The aorta is a high-pressure system and injuries to it should be treated aggressively.
Adult ; Angiography ; Aorta ; Aorta, Thoracic* ; Carotid Arteries ; Emergencies ; Hemorrhage ; Humans ; Hypothermia ; Lacerations ; Mediastinum