Caracteristic brain MRI findings in neonates with tubeorus sclerosis.

The spectrum of characteristic brain MRI findings in neonates with TSC includes white matter lesions, cortical tubers, subependymal nodules, transmantel dysplasia, focal hemimegalencephaly, hemimegalencephaly, cerebral SEGCA and cerebellar SEGCA [Figures 1-4]. Normal MRI and CT the brain in neonates with TSC does not exclude later CNS involvement.

 
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Figure 1. [A]. Sagittal T1 weighted demonstrating an area of high signal abnormality in the precentral gyrus consistent with a cortical tuber. There is partial visualization of the subependymal tubers and white matter lesions. [B] Sagittal T1 weighted demonstrating white matter lesions.

 
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Figure 2. [A] Axial T1 weighted image with contrast demonstrating an extensive area of transmantle dysplasia compromising the right frontal cortex with associated hypermyelinization. There is sloping of the right frontal horn of the lateral ventricle. This is consistent with a focal hemimegalencephaly. [B] Axial T1 weighted image demonstrating diffuse enlargement of the right cerebral hemisphere, extensive cortical dysplasia, abnormal signal intensity of the periventricular white matter consistent with hemimegalencephaly.

 
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Figure 3. [A] Axial T1 weighted image demonstrating bilateral masses in the foramen of Monro, the right side larger than the left, consistent with subependymal giant cell astrocytomas. There is also a large cortical and subcortical tuber in the left temporal-occipital region. [B] Sagittal T1 weighted image with gadolinium demonstrating obstructive hydrocephalus, cortical and subcortical tubers and a large posterior fossa mass, that enhances heterogeneously and extends into the cervical canal.

 
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Figure 4. [A]. transverse T1 weighted image with gadolinium demonstrating obstructive hydrocephalus and a large heterogeneously enhancing mass in the posterior fossa and bilateral subependymal tubers. [B] Hematoxylin-eosin stain of tumor tissue [Figure 3 B and 4 A] demonstrating a solid proliferation of large balloon cells with abundant glassy to finely granular or foamy eosinophilic cytoplasm with frequent eccentric uniformly regular nuclei with a bland chromatin and distinct nucleoli.

(Victor Dubowitz. Muscle biopsy: a practical approach. Second edition. London: Bailliere Tindall; 1985).