Carbamoyl phosphate synthetase 1 deficiency
Feb. 27, 2024
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Medulloblastoma (MRI) (2)
Imaging from a 9-year-old girl who presented with acute onset of headaches and vomiting reveals a well-circumscribed mass along the midline of the posterior fossa. The mass fills the 4th ventricle and effaces the vermis. The mass is isointense to slightly hyperintense to gray matter on the T2 (A) and FLAIR (B) images. The mass is isointense to slightly hypointense to gray matter on the T1 weighted images (C) but enhances with contrast (D). The location and imaging features of this mass is consistent with medulloblastoma. This was confirmed on resection. (Contributed by Dr. Diana Gomez-Hassan.)
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