Case 13

Diagnosis: Orbital wall infarction with subperiosteal hematomas

Clinical presentation: 11 year old child with sickle cell disease presents with severe headache and periorbital swelling.

Imaging Findings: The non C+ CT demonstrates left periorbital soft tissue swelling and an intraorbital area of increased soft tissue density in the superior aspect of orbit

The MRI demonstrates a corresponding intraorbital fluid collection, areas of abnormal calvarial and orbital bone signal and enhancement, and enhancing dura with intracranial epidural fluid collections

Ddx: Orbital cellulitis and osteomyelitis

Discussion: Sickle cell disease (SCD) causes arteriolar occlusion and tissue infarction

Orbital wall infarcts can develop spontaneous hematomas which require expedient diagnosis because they can be sight-threatening when they occur intraorbitally

The main differential is osteomyelitis and abscess formation

TIP: Periorbital cellulitis and orbital abscesses are typically associated with sinusitis. In this case, the sinus disease is minimal and the child has SCD. Also look at the signal characteristics of the the subperiosteal fluid collections. Low signal on T2 indicates acute/early subacute hemorrhage and can help differentiate from an abscess.

References:

  • McBride CL, Mai KT, Kumar KS. Orbital infarction due to sickle cell disease without orbital pain. Case Rep Ophthalmol Med 2016;5867850
  • Janssens C, Clayes L, Maes P, Boiy T, Wojciechowski M. Orbital wall infarction in child with sickle cell disease. Acta Clin Belg 2015;70:451-452
  • Oka DN, Tokpa A, Bah A, Drou L. Spontaneous intracranial extradural hematoma in sickle cell disease. J Neurol Surg Rep 2015;76:e97-e99

 

Case 12:

Diagnosis: Embryonal tumor of the spinal cord with diffuse metastatic disease

Clinical presentation: 12 y/o presenting with headache, back pain and upper extremity weakness for a year

Imaging Findings: T2 heterogeneous, expansile enhancing intramedullary mass in the cervicothoracic cord (C5-T3) demonstrating diffuse restricted diffusion. Metastatic disease within the brain demonstrated on postcontrast and DWI with hyperintensity throughout the leptomeninges.

Discussion: There has been major revamping of the formerly known Primitive neuroectodernal tumor (PNET), now better described in a group known as Embryonal tumors. These tumors are highly malignant undifferentiated or poorly differentiated tumors of neuroepithelial origin. This group now includes medulloblastoma, embryonal tumor with multilayered rosettes, medullopepithelioma, CNS neuroblastoma, CNS ganglioneuroblastoma, CNS embryonal tumor, ATRT, and CNS embryonal tumor with rhabdoid features. Consider this in a pediatric patient presenting with a tumor demonstrating restricted diffusion and CSF dissemination.

References:

  1. Bhatia A, Pruthi S. Pediatric Brain Tumors: A Different Ball Game. Semin Roentgenol. 2017;53(1):77-100. doi:10.1053/j.ro.2017.11.007
  2. Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.Acta Neuropathol. 2016;131(6):1-18. doi:10.1007/s00401-016-1545-1
  3. Shih RY, Koeller KK. Embryonal Tumors of the Central Nervous System. 2018.

Case 11, Hemophagocytic lymphohistiocytos (HLH) Secondary to EBV

  • Imaging at presentation shows normal ventricles with multiple scattered areas of restricted diffusion from infection (EBV). 3 months later significant atrophy, FLAIR hyperintensity in white matter, and restricted diffusion in inferior cerebellum with enhancement
  • Multisystem disorder with aggressive proliferation of activated macrophages and histiocytes, often affecting the central nervous system
  • Primary form (familial or sporadic) results from defect of the immune system, occurs in young infants, and is fatal if untreated
  • Secondary form is a reactive process in response to infective agents as well as to malignanciesand tends to occur in immunocompromised individuals
  • Radiology = Diffuse leptomeningeal and perivascular enhancement, which corresponds to meningeal and perivascular infiltrations of histiocytes and lymphocytes, patchy areas of increased T2 signal intensity in the white matter of the both cerebral hemispheres, and a diffuse parenchymal volume loss of the cerebrum and cerebellum. Nodular or ring enhancement of the parenchymal lesion appears due to the compromised blood-brain barrier that is associated with active demyelination.
  1. Ozgen B, Karli-Oguz K, Sarikaya B, Tavil B, Gurgey A. Diffusion-weighted cranial MR imaging findings in a patient with hemophagocytic syndrome. Am J Neuroradiol. 2006;27(6):1312-1314.
  2. Chung TW. CNS Involvement in Hemophagocytic Lymphohistiocytosis: CT and MR Findings. Korean J Radiol. 2008;8(1):78.

Case 10. Craniopharyngioma

  • Most common symptoms are headaches and visual disturbance from mass effect on optic nerves and the optic chiasm.
  • Partially enhancing complex cystic suprasellar mass, without restricted diffusion
  • Key-imaging feature of craniopharyngioma on MRI includes fluid-fluid levels of various intensities on precontrast T1
  • MRI is most beneficial for surgical planning and in demonstrating the normal pituitary gland, which will be displaced inferiorly from the large suprasellar mass easily distinguishing it from intrinsic pituitary tumors
  • Calcifications vary in appearance, from thin to chunky and masslike, which is one advantage of CT over MRI in diagnosis
  • Treatment is surgical

Case 9. Diagnosis Subglottic Infantile Hemangioma

Clinical presentation: Stridor, respiratory distress in an infant

Imaging: Asymmetric narrowing of subglottic airway, which may be suggested on radiographs. CT demonstrates intensely enhancing mass. MRI T2 bright mass with avid enhancement.

General considerations: Glut 1 positive, 50% have cutaneous stigmata, PHACE association

Treatment: Propanolol, steroids, laser, and surgery

Case 8. Oligodendroglioma

•Less than 1% of pediatric central nervous system neoplasms
•Calcification, vasogenic edema, and enhancement are less commonly noted in children
•Hallmark molecular codeletion of 1p and 19q chromosome arms, diagnostic and prognostic
•Cortical–subcortical location, most commonly in the frontal lobe
•New enhancement in previously non-enhancing, untreated tumor, suggestive of malignant transformation
•Grade III tumors showed lower ADC values compared with grade II tumors (Khalid L, CaroneM, DumrongpisutikulN, et al. Imaging characteristics of oligodendrogliomas that predict grade. Am J Neuroradiol. 2012;33(5):852-857. doi:10.3174/ajnr.A2895)

Case 7. Diagnosis: Zellweger Spectrum Disorder

Clinical presentation: Abnormal facial features, seizures, developmental delay and hearing loss. Associated with renal cysts and hepatic dysfunction.

Imaging: Hypomyelination (look at the posterior limbs on T1), polymicrogyria, and periventricular (germinolytic) cysts (as in this case). Diagnosis is based on clinical presentation, imaging findings and the presence of peroxisomal metabolites.

Polymicrogyria most common in perisylvian/rolandic regions (as in this case).

DDX: Infantile adrenal leukodystrophy, chondrodysplasia punctata, congenital CMV, congenital muscular dystrophies.

Addition information: AKA Cerebrohepatorenal syndrome, peroxisomal disorder

 

 

Case 6. Diagnosis: Thymopharyngeal Duct Remnant

 

AKA Type 3/4 branchial cleft sinus.

Clinical presentation: Recurrent left neck abscess in a child with commonly associated suppurative thyroiditis.

Imaging: Thyroid involvement (diminished enhancement in this case) with inflammation extending to the pyriform sinus. Sometimes air seen in sinus tract (not in this case). CT suggestive and recommend direct laryngoscopy.

Embryology: Imaging and surgical findings suggest that they arise from the embryonal thymopharyngeal duct of the third branchial pouch, because they do not follow the hypothetic course of third or fourth arch fistulas.

These lesions present as large cysts in the newborn or infant.

Reference: Thomas B, et al. Revisiting Imaging Features and the Embryologic Basis of Third and Fourth Branchial Anomalies. AJNR 2010

Case 5. Diagnosis: Kaposiform Lymphangiomatosis (KLA) with associated Kasabach-Merrit Phenomenon (KMP)

  • KLA is a new distinct, generalized aggressive lymphatic anomaly. KLA is considered a vascular malformation under the 2018 ISSVA classification.
  • Histology shows clusters or sheets of spindled lymphatic endothelial cells accompanying malformed lymphatic channels.
  • Imaging shows infiltrative lesions typically within the mediastinum, pleura, neck, bones, spleen, and abdominal viscera.
  • Kaposiform hemangioendothelioma (KHE) is histologically similar, but the clinical & imaging features are different. KHE is typically unifocal and has a purpuric cutaneous lesion, while KLA is usually multifocal and the skin is normal. KMP can be associated with both.
  • Sirolimus is an mTOR inhibitor and has been used to treat KLA (as well as other vascular anomalies) with successful results.

Case 4. Diagnosis: Infantile Hemangioma. Ultrasound demonstrates a high flow lesion within the region of the left parotid gland. Most common vascular tumor of childhood. Pathology (not obtained, but would be Glut-1 positive). Further imaging is not indicated given location and appearance. Non-operative treatment primarily is propranolol (b-Blocker). Characteristic rapid enlargement in the infant with slow regression over years.

Case 3. Diagnosis: Tuberous Sclerosis. Findings include multiple subependymal nodules and subcortical hamartomas. Remember the hamartomas demonstrate increased T1 signal in relation to unmyelinated white matter in the infant. Also Magnetic Transfer T1 weighted images can be quite helpful to increase the conspicuity of these lesions as well as any type 2B cortical dysplasia.

Case 2. Diagnosis: Anterior neck dermoid. They are usually located midline or off midline (suprasternal, tongue, nasal, anterior fontanelle, occipital). Contain epithelial and mesodermal elements (fat, cartilage, bone). Unilocular cystic mass, which may have negative HU on CT. MRI has variable signal intensity on T1 and T2 depending on content. T1 signal may suppress using fat suppression techniques. The classic sac-of marbles appearance as demonstrated in this case is due to coalescence of fat into small globules. Enhancement is typically absent. Differential diagnosis in this case would be an off midline thyroglossal duct cyst. A more encompassing differential (cystic pediatric neck masses) would also include…

  • Branchial cleft cyst (has to be in the right location)
  • Lymphatic malformation (typically multilocular)
  • Thymic cyst (newborn presentation)
  • Ranula (floor of mouth)
  • Cystic metastasis (uncommon in children) and necrotic tumors or lymph nodes

Diagnosis: Embryonal tumor of the spinal cord with diffuse metastatic disease

Clinical presentation: 12 y/o presenting with headache, back pain and upper extremity weakness for a year

Imaging Findings: T2 hyperintense, expansile enhancing intramedullary mass in the cervicothoracic cord (C5-T3) demonstrating diffuse restricted diffusion. Metastatic disease within the brain.

Discussion: There has been major revamping of the formerly known Primitive neuroectodernal tumor (PNET), now better described in a group known as Embryonal tumors. These tumors are highly malignant undifferentiated or poorly differentiated tumors of neuroepithelial origin. This group now includes medulloblastoma, embryonal tumor with multilayered rosettes, medullopepithelioma, CNS neuroblastoma, CNS ganglioneuroblastoma, CNS embryonal tumor, ATRT, and CNS embryonal tumor with rhabdoid features. Consider this in a pediatric patient presenting with a tumor demonstrating restricted diffusion and CSF dissemination.

References:

  1. Bhatia A, Pruthi S. Pediatric Brain Tumors: A Different Ball Game. Semin Roentgenol. 2017;53(1):77-100. doi:10.1053/j.ro.2017.11.007
  2. Louis DN, Perry A, Reifenberger G, et al. The 2016 World Health Organization Classification of Tumors of the Central Nervous System: a summary.Acta Neuropathol. 2016;131(6):1-18. doi:10.1007/s00401-016-1545-1
  3. Shih RY, Koeller KK. Embryonal Tumors of the Central Nervous System. 2018.

Case 13:

Diagnosis: Orbital wall infarction with subperiosteal hematomas

Clinical presentation: 11-year-old child with sickle cell disease presents with a severe headache and periorbital swelling.

Imaging Findings: The non C+ CT demonstrates left periorbital soft tissue swelling and an infraorbital area of increased soft tissue density in the superior aspect of the orbit

The MRI demonstrates a corresponding intraorbital fluid collection, areas of abnormal calvarial and orbital bone signal and enhancement, and enhancing dura with intracranial epidural fluid collections

Ddx:

•Orbital cellulitis
•Osteomyelitis

Discussion: Sickle cell disease (SCD) causes arteriolar occlusion and tissue infarction

Orbital wall infarcts can develop spontaneous hematomas which require expedient diagnosis because they can be sight-threatening when they occur intraorbitally
The main differential is osteomyelitis and abscess formation
TIP: Periorbital cellulitis and orbital abscesses are typically associated with sinusitis. In this case, the sinus disease is minimal and the child has SCD. Also look at the signal characteristics of the the subperiosteal fluid collections. Low signal on T2 indicates acute/early subacute hemorrhage and can help differentiate from an abscess.
References:
•McBride CL, Mai KT, Kumar KS. Orbital infarction due to sickle cell disease without orbital pain. Case Rep OphthalmolMed 2016;5867850
•JanssensC, ClayesL, MaesP, BoiyT, WojciechowskiM. Orbital wall infarction in child with sickle cell disease. ActaClinBelg2015;70:451-452
•Oka DN, TokpaA, Bah A, DrouL. Spontaneous intracranial extradural hematoma in sickle cell disease. J NeurolSurgRep 2015;76:e97-e99