*7 year-old boy with seizure.
What is the most likely diagnosis?
Answer
Answer: Tuberous sclerosis
Case Discussion:
The unenhanced axial CT images showed small calcified subependymal hamartomas and, cortical-subcortical tubers.
Tuberous sclerosis (also known as tuberous sclerosis complex or Bourneville disease) is a phakomatosis (neurocutaneous disorder) characterized by development of multiple benign tumors of the embryonic ectoderm. Tuberous sclerosis has an incidence of 1:6000-12,000.
Clinical presentation
• Seizures
• Mental retardation
• Adenoma sebaceum
Radiographic features
• Cortical or subependymal tubers and white matter abnormalities
• Renal angiomyolipomas
• Cardiac rhabdomyoma(s)
Neurological findings
• cortical/subcortical tubers: 50% are in the frontal lobe; high T2 and low T1 with only 10% of tubers showing enhancement
• subependymal hamartomas: 88% calcification
• subependymal giant cell astrocytomas
• white matter abnormalities
• retinal phakomas
References:
1. Umeoka S, Koyama T, Miki Y et-al. Pictorial review of tuberous sclerosis in various organs. Radiographics. 28 (7): e32.
2. Bell DG, King BF, Hattery RR et-al. Imaging characteristics of tuberous sclerosis. AJR Am J Roentgenol. 1991;156 (5): 1081-6.
3. Kalantari BN, Salamon N. Neuroimaging of tuberous sclerosis: spectrum of pathologic findings and frontiers in imaging. AJR Am J Roentgenol. 2008;190 (5): W304-9.
4. Bernauer TA. The radial bands sign. Radiology. 1999;212 (3): 761-2.