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Diagnostic Magnetic Resonance Imaging of the primary spinal hamartoma. (A) Coronal T2 image of the cervical spine shows an intraspinal extramedullary mass (arrow) which is iso to hypointense, compressing the cord. (B) Contrast enhanced axial T1 image with fat saturation showing the enhancing intraspinal mass (arrow); (C) Coronal contrast enhanced T1 image with fat saturation showing the lobulated intraspinal component (arrow) which infiltrated into the cord. (D) Coronal contrast enhanced T1 image, arrows show extension through multiple neural foramina on the right.
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Magnetic resonance imaging (MRI) of the brain and spine revealed a cervical spine extramedullary lesion extending from C2-C6 with extension through several neuronal foramina on the right ( Figure 1 ) and severe compression of the spinal cord.
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H&E and Immunohistochemistry (IHC) stains displaying histopathologic features of spinal hamartoma. (A) H&E stain; original magnification x12.5. Irregular lobules of hyaline cartilage, with loose fibrous stroma in between. Irregular nerve-like tissue is found in the loose fibrous stroma (B) H&E stain; original magnification x200. High power view of the cartilage and nerve-like tissue. (C) IHC stain for S100; original magnification x 50. Both the cartilage and the nerve-like tissue are positive for S100. (D) IHC stain for neurofilament; original magnification x50. The nerve-like tissue is positive for neurofilament.
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The lesion showed anastomosing islands of hyaline cartilage with loose fibrous stroma (including nerve-like tissue) in between ( Figures 2A, B ). Immunohistochemistry (IHC) stains of the nerve-like tissue were positive for neurofilament and S100, consistent with nerve differentiation ( Figures 2C, D ).
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Diagnostic timeline of our infant with congenital spinal hamartoma and DICER1 Syndrome. Created with .
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Ongoing Surveillance with 6 monthly abdominal/pelvic ultrasound and chest X-ray and annual ophthalmologic assessment has not revealed any other DICER1-associated manifestations to date ( Figure 3 ).