Wolfgang Hirsch, R.P. Spielmann (Halle)  

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Head-Brain and brain nerves  

congenital  

Mental retardation, epilepsy, typical changes in the skin: Adenoma sebaceum: facial angiofibromas in the nasolabial fold - starting at age 1-5. Multiple ungual fibromas, depigmentation of the trunk.  

In this contribution, only the cerebral lesions of a 9 year-old boy are shown.

Fundamentally, however, Multi-organ illness (phakomatosis) with manifestations possible in:

Skin: Adenoma sebaceum: facial angiofibromas in the nasolabial fold;

Eye: retinal hamartomas that can calcify;

Kidney: Angiomyofibromas, see there;

Lung and Abdomen: Lymphangioleiomyofibromatosis, see there.

Heart: benign rhabdomyomas.

 

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MRI 1: Transversal



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MRI 2: Transversal



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MRI 3: Transversal



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MRI 4: Transversal



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MRI 5: Coronal



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MRI 6: Transversal



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MRI 7: Transversal



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MRI 8: Transversal



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MRI 9: Transversal



Intracerebrally, there are 4 types of changes to be found:

1. Subependymal Hamartomas: They push themselves out under the ependyma into the ventricles, are very small, are principally seen in every ventricle (but most often in the lateral ventricles). Calcifications are seen in rising age. In small children these are hyperintense, but later become isointense to the white matter.

2. Large-cell tumors: differentiate themselves from above only because of their size and the tendency to grow. They are also more often to be found in the area of the foramen of Monroi. Contrast uptake is possible, but not obligatory.

3. (Sub)-Cortical Tuber: Round or polygonal, underneath the cortex, and are seen often causing widened gyri. In babies, T1 images are hyperintense and T2 is hypointense. Later they become isointense in T1 and hyperintense in T2. There is a tendency for calcification.

4. White matter lesions: spanning or linear, these have the same signal intensity characteristics as the (sub)cortical tuber and are composed of dysplastic cell formations. Here too, calcifications are possible.

Extracerebral manifestations: Kidney, lung, abdomen (see above. In these examples, only cerebral manifestations are shown.)

 

Total constellation (Consens)  

Relatively typical findings in summation. The difficulty and need to compare this to neurofibromatosis or other cerebral tumors occur only very seldomly.  

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1. Medline:
Barkovich AJ
Pediatric Neuroimaging
2000  

Tuberous, sclerosis, brain, Bourneville-Pringle's disease, tuberous sclerosis, mental retardation, epilepsy, skin, Adenoma sebaceum, facial angiofibromas, nasolabial fold, ungual fibromas, depigmentation, kidney, Angiomyofibromas, retinal hamartoma, Lymphangioleiomyofibromatosis, phakomatosis, child, childhood, pediatric radiology  

Wolfgang Hirsch, RP Spielmann. Tuberous sclerosis of the brain / Bourneville-Pringle's disease. PedRad [serial online] vol 1, no. 11.
URL: www.PedRad.info/?search=20011128175838