case_images: PMC5682916_01
case_images: (a) Coronal and (b) sagittal pituitary MRI images post-gadolinium contrast show thickened enhancing pituitary stalk (arrow). It measures 4.7 mm at the level of the optic chiasm. The pituitary gland is within normal limits (asterisk).
case_images: CRIHEM2017-3862052.001.jpg
case_images: PMC5682916_01_CRIHEM2017-3862052.001.jpg
case_images: fig1
case_images: Pituitary magnetic resonance imaging (MRI) showed mild thickening of the pituitary stalk (Figure 1), diagnosis of cranial DI was confirmed, and he was started on desmopressin sublingually which dramatically improved his polyuria and polydipsia.
case_images: T1-weighted sagittal MRI of the brain shows uniform cerebellar loss.
case_images: CRIHEM2017-3862052.002.jpg
case_images: PMC5682916_01_CRIHEM2017-3862052.002.jpg
case_images: fig2
case_images: T2 hyperintensity predominantly in the right more than in the left cerebellar hemisphere and tegmental pons. There was symmetrical volume loss of the normally formed cerebellum associated with few bilateral confluent white matter T2/FLAIR hyperintensities involving the superior cerebellar and, to a lesser extent, the middle cerebellar peduncles, without diffusion restriction or enhancement (Figure 2).
case_images: (a) Axial contrast-enhanced CT image of the abdomen and pelvis at the level of the kidneys shows bilateral rind-like perirenal soft tissue infiltrations, giving the appearance of "hairy kidney" (arrowheads). Anterior abdominal wall infiltration is also seen (arrows). (b) Corresponding PET/CT image shows intense FDG uptake in the same areas.
case_images: CRIHEM2017-3862052.003.jpg
case_images: PMC5682916_01_CRIHEM2017-3862052.003.jpg
case_images: fig3
case_images: Computed tomography scan (CT) revealed bilateral perinephric soft tissue infiltration (hairy kidney sign), soft tissue thickening at the right atrioventricular sulcus, and infiltrative mass on the anterior abdominal wall (Figure 3(a)) as well as soft tissue thickening overlying the right atrium posteriorly (Figure 4). The positron emission tomography (PET) (Figure 3(b)) showed intense hypermetabolic uptake in the muscles and skin of the anterior chest and abdominal wall and left axillary and inguinal lymph nodes as well as perinephric and cerebellar uptake.
case_images: Axial contrast-enhanced CT image of the chest shows nodular soft tissue thickening overlying the right atrium posteriorly (arrow) and extending to the atrioventricular groove (arrowhead).
case_images: CRIHEM2017-3862052.004.jpg
case_images: PMC5682916_01_CRIHEM2017-3862052.004.jpg
case_images: fig4
case_images: Computed tomography scan (CT) revealed bilateral perinephric soft tissue infiltration (hairy kidney sign), soft tissue thickening at the right atrioventricular sulcus, and infiltrative mass on the anterior abdominal wall (Figure 3(a)) as well as soft tissue thickening overlying the right atrium posteriorly (Figure 4).
case_images: Histologically, the hematoxylin and eosin (H&E) stain shows infiltration by histiocytes (a), 100X. The infiltrate is composed of bland-looking histiocytes with foam-cell and giant-cell forms (b), 200X. The histiocytes stain positive for CD68 immunostain (c) and negative for S100 immunostain (d).
case_images: CRIHEM2017-3862052.005.jpg
case_images: PMC5682916_01_CRIHEM2017-3862052.005.jpg
case_images: fig5
case_images: Touton multinucleated giant cells, positive for CD68 and negative for S100 and CD1a indicating xanthogranuloma (Figure 5). The tissue was sent to the bioreference laboratory (Gen Path) in the United States of America for sequencing of BRAF gene, and the BRAF V600E mutation was detected.