Case of the Day(sm)

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Chest radiograph on a six-year-old girl.

Our appreciation is extended to Dr. Jeremy Cardinal,
Indiana University Department of Radiology,
for contributing this case.

History: Chest radiograph on a six-year-old girl.

Review the image below. Which choice most likely represents the salient finding?

Mass lesion.Vascular anomaly.Loculated effusion.Atelectasis.Round pneumonia.

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Case of the Day(sm)

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Chest radiograph on a six-year-old girl.

Same image (with lateral) is again shown below. Click to enlarge. Which choice most most likely characterizes the mass lesion?

Fibrous tumor of the pleura.Primary pulmonary neoplasm.Neurogenic tumor.Esophageal mass lesion (neoplasm or duplication).Chest wall sarcoma.

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Case of the Day(sm)

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Chest radiograph on a six-year-old girl.

Here are some selected CT and MR images of the same patient. Click to enlarge.

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Case of the Day(sm)

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Chest radiograph on a six-year-old girl.

Findings: The plain radiographs demonstrate a left apical mass with splaying of the ribs and abnormal spinal contour. The CT demonstrates a paravertebral soft tissue mass in the left apex. There is dural ectasia, expansion of the neuroforamina, and and scalloping of the vertebral bodies. The MR demonstrates multiple enhancing heterogenous T2 hyper intense masses in the left paravertebral region centered in the upper thoracic spine with dural ectasia and lateral thoracic meningoceles.

Differential diagnosis:

Plexiform neurofibroma
Chronic inflammatory demyelinating polyneuropathy
Neuroblastoma
Sarcoma
Hemangioma

Diagnosis: Plexiform neurofibroma

Which choice best depicts the syndrome associated with this diagnosis?

Von Recklinghausen disease.Neurofibromatosis type 1.Neurofibromatosis type 2.A or B.A or C.

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Case of the Day(sm)

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Chest radiograph on a six-year-old girl.

Key points:

Neurofibromatosis type 1 (NF1) is a multisystem disease caused by a mutation or deletion of the NF1 gene on chromosome 17, with autosomal dominant inheritance.
Approximately 50% of cases represent new mutations.
Cutaneous findings include café-au-lait spots, axillary freckling, and neurofibromas. Lisch nodules may be present in the iris.
Radiographic findings include bizarre kyphoscoliosis, scalloped vertebra, hypoplastic pedicles, enlarged neuroforamina, and ribbon ribs.
Other imaging findings include multiple nerve sheath tumors, plexiform neurofibromas, dural ectasia, lateral meningoceles, foci of white matter T2 prolongation in younger patients, sphenoid wing dysplasia, glial tumors, fibromuscular dysplasia, vascular stenosis, intracranial aneurysms, and moyamoya
The target sign on T2 weighted images suggest neurogenic tumor

References:

Gilbert Vezina MD. "Neurofibromatosis Type 1, Spine." StatDx. https://my.statdx.com/STATdxMain.jsp?rc=false#dxContent;neurofibromatosis_type_1_spine_pedsneuro 09/30/2011

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