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Headache and Focal Neurologic Deficits in a 37-Year-Old Woman

Maranatha O. Ayodele, MD1; Melike Pekmezci, MD2; Manish K. Aghi, MD, PhD3; Brian J. Scott, MD1,4
[+] Author Affiliations
1Department of Neurology, University of California, San Francisco
2Division of Neuropathology, Department of Pathology, University of California, San Francisco
3Department of Neurosurgery, University of California, San Francisco
4now with the Department of Neurology, Lahey Hospital and Medical Center, Burlington, Massachusetts
JAMA Neurol. 2013;70(11):1445-1449. doi:10.1001/jamaneurol.2013.3933.
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Published online

A 37-year-old woman presented with progressively worsening headache. She had no headache history, and initial evaluation revealed hydrocephalus of unclear etiology. A ventriculoperitoneal shunt was placed with improvement. However, her headache returned and she developed neurologic deficits. Imaging studies demonstrated multiple cystic lesions in the posterior fossa. Serum and cerebrospinal fluid studies were unrevealing and a biopsy of the cystic lesions was performed. The clinical approach, differential diagnosis, and neuropathological findings are discussed.

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Figure 1.
Magnetic Resonance Imaging of Brain and Cervical Spine

A, Axial gadolinium-enhanced T1-weighted magnetic resonance image (MRI) showing multiple, loculated, cystic collections with irregular, nodular enhancement along the borders. B, Axial diffusion-weighted MRI showing no evidence of diffusion restriction. C, Axial T2-weighted MRI with 1 cyst showing a T2-isointense internal nodular structure (arrow). D, Sagittal T2-weighted cervical spine MRI showing marked compression of the upper cervical cord (arrows). E, Axial T2-weighted MRI before development of a parenchymal lesion. F, Axial T2-weighted MRI taken 5 days later showing interval development of a new parenchymal lesion (arrow).

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Figure 2.
Neuropathological Findings on Brain Biopsy

A, Glandular tissue reminiscent of intestinal-type epithelium (hematoxylin-eosin, original magnification ×4). B, Diffuse nuclear positivity for caudal-type homeobox 2 protein (original magnification ×200). C, Diffuse cytoplasmic positivity for cytokeratin 7 (original magnification ×200). D, Diffuse cytoplasmic positivity for cytokeratin 19 (original magnification ×200). E, Patchy cytoplasmic positivity for cytokeratin 20 (original magnification ×200).

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