الموقع الرسمي للدكتور أحمد رفاعي

  • الرئيسية
  • محاضراتي - فيديو
  • محاضراتي - بور بوينت
  • case of the week
  • أعمال من تصويري
  • أعمال من رسوماتي
  • قصص قصيرة
  • اتصل بنا

Case : 5

1/10/2013

7 Comments

 
Picture







Technique :

Axial CT study for the brain with IV contrast administration

 Findings :
 Calcified subependymal tubers are seen confirming the diagnosis
of tuberous sclerosis

 Diagnosis : tuberous sclerosis

 Teaching points :
·    One of the phacomatosis( neuroectodermal disorders ) characterized by hamartomatous tumors + malformations occurring in brain, eyes, bone,  kidneys, lung, skin, heart and visceral involvement .
 ·    Classic clinical triad ( in only 30%) : seizures, mental retardation, and adenoma sebaceum
·      Brain involvemet: subependymal tubers ( pathognomonic finding ), giant cell astrocytoma at the region of foramen of Monro, cortical and subcortical tubers and gray matter heterotopia.
·      Renal involvement: angiomyolipoma ( 40-90%) , simple cysts ( 15%),and renal cell carcinoma (1-3%)
 ·      Ocular involvement: retinal hamartoma, optic nerve glioma
 ·      Lung involvement:interstitial lung disease, lymphangioleiomyomatosis, pneumothorax, and chylothorax
 ·      Heart involvement: cardiomyopathy, subendocardial rhabdomyoma 
·      Bone involvement: bone islands in pelvic brim, vertebrae, long bones,sclerotic calvarial patches and bone cysts.
·     Visceral involvement: multiple lipomas of liver, adenomas of pancreas and tumors of spleen.


7 Comments