Fig. 2

Radiological tests. a brain CT and MRI of the proband (III-7). (A1) Non-contrast CT scan showed extensively hypodense lesions with focal calcifications. (A2) FLAIR images showed diffuse leukoencephalopathy bilaterally. (A3) DWI indicated central restricted diffusion. (A4, A5) Post-contrast MRI revealed multiple irregular rim-enhancing lesions. b brain CT and MRI of patient 2 (III-1). (B1) Non-contrast CT scan showed extensively hypodense lesions with focal calcifications. (B2) Coronary FLAIR images showed diffuse leukoencephalopathy. (B3, B4) DWI paired with ADC indicated central restricted diffusion. (B5) Post-contrast MRI showed multiple irregular rim-enhancing lesions in the periventricular region. c Preoperative neuroimages of patient 3 (III-4). (C1) Non-contrast CT scan showed irregular hypodense lesions in the right frontal lobe and basal ganglia region with mass effect and a tiny calcified dot. (C2) FLAIR images showed iso- to hyperintense lesions with peripheral edema. (C3, C4) DWI paired with ADC indicated central restricted diffusion. (C5) Post-contrast MRI showed a garland-like enhancement pattern. d Postoperative neuroimages of patient 3 (III-4). (D1) Non-contrast CT scan showed postoperative changes in the residual cavity. (D2, D3) FLAIR and enhanced MRI done immediately after the surgery showed removal of the lesion and enhancement of the surrounding meninges. (D4, D5) One month later, a follow-up MRI showed newly occurred rim-enhancing lesions posterior to the resected region, with residual cavity shrank and meningeal enhancement diminished, which was misdiagnosed as radiation-induced necrosis by the radiologist. e Abdominal CT of the proband (III-7). Post-contrast CT showed segmental intestinal wall edema in the mid-upper abdomen and mesenteric inflammatory changes (edema, panniculitis, increased blood vessel density, and vessel dilatation). f MRS pattern. (F1) normal tissue. (F2) a ring-enhancing lesion of patient 3 (III-4)