Newborn with a posterior fossa cyst on prenatal ultrasound

MRI of mega cisterna magna — Sagittal (above left), coronal (above right), and axial (below) T1 MRI without contrast of the brain shows a prominent retrocerebellar cerebrospinal fluid space (the cisterna magna) with a normal vermis, normal 4th ventricle, and normal cerebellar hemispheres.

The diagnosis was mega cisterna magna.

Preschooler with new onset diabetes insipidus

MRI of Langerhans cell histiocytosis of the pituitary — Sagittal T1 MRI without contrast (above left) of the brain shows absence of the posterior pituitary bright spot. Sagittal (above right) and coronal T1 with contrast (below left) show a thick and enhancing pituitary stalk. Axial T1 with contrast (below right) again shows the thick enhancing pituitary stalk and enhancing lesions in both sphenoid wings and in the left orbit.

The diagnosis was Langerhans cell histiocytosis of the pituitary and Langerhans cell histiocytosis of the orbit.

Toddler with left orbital swelling

CT and MRI of Langerhans cell histiocytosis of the orbit — Coronal CT with contrast of the orbits in bone (above left) and soft tissue (above right) windows show bony destruction in the superolateral aspect of the orbit caused by a soft tissue mass. Coronal T1 MRI without (below left) and with contrast (below right) of the orbits better show the soft tissue mass superolateral to the left orbit which enhances avidly.

The diagnosis was Langerhans cell histiocytosis of the orbit.

Toddler with a genetic syndrome undergoing screening neuroimaging

MRI of hamartoma of the tuber cinereum / hypothalamic hamartoma — Sagittal T2 (above), T1 without contrast (below left) and T1 MRI with contrast (below right) of the brain show a suprasellar mass that is solid and heterogenous which is isointense on T1 and T2 and is nonenhancing.

The diagnosis was hamartoma of the tuber cinereum.

Infant with a back mass

CT of fibromatosis — Axial (above), coronal (below left) and sagittal (below right) CT with contrast of the abdomen show a round, avidly enhancing soft tissue mass arising from the subcutaneous tissues to the left of midline.

The diagnosis was fibromatosis.

Teenager with first time seizure

MRI of dysembryoplastic neuroepithelial tumor / DNET — Axial T1 without contrast (above left), T2 (above right) and T1 with contrast (below left) MRI of the brain show a round heterogenous lesion in the medial aspect of the left temporal lobe that appears to extend into the cortex, has a small amount of surrounding edema, and does not enhance. On gradient echo (below right) there is some hemosiderin staining in the lesion but no hemosiderin ring around it.

The diagnosis was dysembryoplastic neuroepithelial tumor.

Teenager with bloody diarrhea

Gross pathological image of ulcerative colitis — Gross pathological image of the sectioned colon shows colonic pseudopolyps throughout the length of the colon.

The diagnosis was ulcerative colitis.

Premature newborn with an acutely distended abdomen

Surgical image of small bowel perforation — Surgical image shows a large hole in the small intestine in the center of the image.

The diagnosis was small bowel perforation.

Newborn with an anterior abdominal wall defect

Clinical image of omphalocele — Clinical image shows a large sac containing liver and other viscera with the umbilical cord originating from the sac.

The diagnosis was omphalocele.

Preschooler with a cystic left renal mass

Pathological image of pediatric cystic nephroma — Gross pathological image (left) and sectioned gross pathological image (right) shows a mass composed of multiple cysts separated by thin septae.

The diagnosis was pediatric cystic nephroma.

Newborn with a solid renal mass diagnosed on prenatal ultrasound

Pathological image of mesoblastic nephroma — Gross pathological image shows a light tan to yellow colored tumor mass situated within the lower pole of the kidney which has a fibrous, whorled cut section reminiscent of a leiomyoma.

The diagnosis was mesoblastic nephroma.

Infant with non-bilious and bilious vomiting and a distended abdomen

Surgical image of Meckel diverticulum — Surgical image shows dilatation of almost the entire small bowel except for the decompressed terminal ileum in the left lower corner of the photograph. At this transition point, a diverticulum is noted on the anti-mesenteric border of the ileum.

The diagnosis was small bowel obstruction due to Meckel diverticulum.

Infant with bilious vomiting

Surgical image of malrotation with midgut volvulus — Surgical image shows spiraling of the bowel around the midgut mesentery (left inferiorly). The small bowel (superiorly) is dusky in color.

The diagnosis was malrotation with midgut volvulus.

Female infant with a mass protruding from the vagina

Clinical image of prolapsed ectopic ureterocele — Clinical image shows a purple mass protruding from the vagina. On ultrasound the mass was cystic and there was a left-sided duplicated kidney whose upper pole collecting system was extremely dilated.

The diagnosis was prolapse of an ectopic ureterocele into the vagina in a patient with a left duplicated kidney.

Infant with a single perineal opening

Clinical image of cloacal malformation — Clinical images show female external genitalia with no anus (left) and a single perineal orifice between the labia (right).

The diagnosis was cloacal malformation.

Preschooler with virilization and atypical genitalia

Clinical image of congenital adrenal hyperplasia — Clinical image shows an enlarged clitoris that resembles a penis and a partially closed labia.

The diagnosis was congenital adrenal hyperplasia.

Female teenager with hirsuitism and virilization and a left adrenal mass

Pathological image of adrenocortical carcinoma — Sectioned gross pathological image shows a solid mass filling and expanding the left adrenal gland.

The diagnosis was adrenocortical carcinoma.

Teenager with left leukocoria

CT of Coat disease — Axial CT without contrast of the orbits (above left) shows increased density in the left vitreous humor when compared to the right. Axial FLAIR MRI of the orbits (above right) shows the vitreous humor to have high signal intensity which is isointense on T1 MRI without contrast (below left) which was felt to be consistent with proteinaceous material or hemorrhage. Axial T1 with contrast (below right) shows wispy enhancement lateral to the left globe due to retinal detachment.

The diagnosis was Coat disease.

Infant with increasing head circumference

MRI of choroid plexus papilloma — Axial (above left), coronal (above right) and sagittal (below) T1 MRI with contrast of the brain shows an avidly enhancing round mass that has a frond-like pattern in the third ventricle causing marked dilation of the lateral and third ventricles.

The diagnosis was choroid plexus papilloma.

Toddler who was sleepy after a fall

CT and MRI of choroid plexus carcinoma — Axial CT without contrast of the brain (above left) shows a large high density mass that contains a few punctate calcifications in the trigone of the right lateral ventricle that is causing midline shift to the left. Axial T2 MRI (above left) of the brain shows the mass to surrounded by edema and to be causing some transependymal flow of cerebrospinal fluid. Axial (below left) and coronal (below right) T1 MRI with contrast show homogenous enhancement of the mass. A separate enhancing nodule is also noted in the left temporal lobe in the region of the left Sylvian fissure.

The diagnosis was choroid plexus carcinoma.

Newborn with myelomeningocele

MR of cavum septum pellucidum — Axial FLAIR (left) and coronal T1 MRI without contrast of the brain show an oval-shaped CSF space between the leaflets of the septum pellucidum in the center of the brain.

The diagnosis was cavum septum pellucidum.

Infant with left parietal soft tissue swelling

3D CT of intraparietal accessory skull suture — 3D reconstruction of a CT without contrast of the brain shows a lucency arising from the left lambdoid suture anteriorly and curving anteriorly that has a zig zag course through the parietal bone.

The diagnosis was an intraparietal accessory skull suture.

Infant with a bump in the left occiput

3D CT of accessory skull suture — 3D reconstruction of a CT without contrast of the brain shows a lucency arising from the left lambdoid suture inferiorly and curving to the left that has a zig zag pattern and seems to interdigitate within the skull. Soft tissue windows showed no associated soft tissue swelling.

The diagnosis was accessory skull suture.

Infant with bilious vomiting

Surgical image of malrotation with midgut volvulus — Surgical image shows spiraling of the bowel around the midgut mesentery (superiorly). The small bowel (peripherally) is dusky in color.

The diagnosis was malrotation with midgut volvulus.

Newborn with dehydration

US CT MRI of superior sagittal sinus thrombosis / SSST — Coronal spectral (upper left) and color (upper right) doppler US of the superior sagittal sinus shows decreased flow within it. Axial CT without contrast of the brain (below left) shows increased density in the superior sagittal sinus. Sagittal T1 MRI without contrast of the brain (below right) shows focal areas of increased signal intensity in the superior sagittal sinus.

The diagnosis was partial dural venous sinus thrombosis of the superior sagittal sinus.