Teaching Case

Twenty-four-year-old man with acute abdominal pain applied to the emergency department. Diffuse abdominal tenderness was detected. Blood lactate level was elevated. Decision to perform a contrast-enhanced CT scan was made.

A thrombi was observed in SMA (Figure 1a-c). Neurologic imaging was performed due to the dilated vascular structures in the spinal canal, suggesting of a vascular malformation/fistula (Figure 1a, 1c-d). Widespread dilated dural sinuses, especially in the sinus rectus, and severe calcification of the basal ganglia were observed (Figure 2).

Fahr syndrome is characterized by severe dystrophic calcification of the basal ganglia, which is not compatible with the patient's age and many factors are involved in its etiology [1]. Genetic causes may include genes such as SLC20A2, XPR1 and PDGFR-Beta [2]. It may also develop secondary to hyperparathyroidism, vasculitis, chronic cerebral infections, chemotherapy or radiotherapy [1]. The patient presented in this case was found to have a PDGFR-Beta mutation, which plays a role in the development of the tunica media of vascular structures and platelet aggregation [3]. The attention of the radiologist is paramount in the diagnosis of this patient. So much so that routine anticoagulant treatment in a patient with such dilated veins could spell disaster. Sagittal and coronal reformat images should definitely be examined, and if a vascular thrombus is seen in a young patient, it should be viewed with much more skepticism.

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