43 Y/0 woman with seizure



Doctor's Information

Name : Seyed Morteza
Family : Bagheri
Affiliation :Radiology Department,Hasheminejad Hospital,IUMS
Academic Degree : Assistant Professor of Radiology
Email : This email address is being protected from spambots. You need JavaScript enabled to view it.
Resident : Mohsen Hasanzadeh


Case Section



Patient's Information

Gender : Female
Age : 43


Clinical Summary

43 Y/0 woman with seizure


Imaging Findings

Bilateral multiple ill define, non restricted, T2/FLAIR hyper intensity mainly in cortical/sub cortical region (yellow arrows) and others are in deep W.M. (red arrow) are seen. Multiple subependymal nodules up to 7mm diameter are noted, too(blue arrow).that some of them are calcified(green arrow).


Differential Diagnosis



Final Diagnosis

Tuberous sclerosis (Tubers and hamartomas)


Discussion (Related Text)

Reference: Tuberous sclerosis (TS) (also known as tuberous sclerosis complex or Bourneville disease) is a neurocutaneous disorder (phakomatosis) characterized by development of multiple benign tumours of the embryonic ectoderm, e.g. skin, eyes, nervous system. Epidemiology Tuberous sclerosis has an incidence of 1 in 6000 to 12,000, with most being sporadic (see below) 6. Clinical presentation Tuberous sclerosis was classically described as presenting in childhood with a triad of: Seizures: absent in 1/4 of individuals Mental retardation: up to half have normal intelligence Adenoma sebaceous: only present in about 3/4 of patients 6 The full triad is only seen in a minority of patients (around 30%). Therefore, diagnostic criteria have been developed to aid the diagnosis of TS - see tuberous sclerosis diagnostic criteria. When patients do not meet these criteria they are sometimes referred to as manifesting a forme fruste of the condition. Pathology Spontaneous mutations account for 50-86% of cases 4, with the remainder inherited as an autosomal dominant condition. In the majority of such cases (80%) the mutation has been narrowed down to two tumor suppressor genes: TSC1: chromosome 9q32-34 TSC2: chromosome 16p13.3 (accounts for most cases) Radiographic features Tuberous sclerosis has a great number of manifestations, involving many organ systems. The most common manifestations are: Cortical or subependymal tubers and white matter abnormalities Renal angiomyolipomas (AML) Cardiac rhabdomyoma(s) Neurological Cortical / sub cortical tubers: 50% are in the frontal lobe: high T2 and low T1 with only 10% of tubers showing enhancement Subependymal hamartomas 88% are associated with calcification, although calcification absent in early childhood Visible within the first 6 months of age 11 Variable signal, frequently high T1 and is to high T2 enhancement is variable and is not a useful feature in distinguishing them from subependymal giant cell astrocytomas (SGCA); only serial growth is reliable 9-10 subependymal giant cell astrocytomas (SGCA) peak occurance 8-18 years tend to be large and demonstrate growth 9-10 tend to have intense enhancement white matter abnormalities: superficial, radial white matter bands and cyst like lesions retinal phakomas rarer findings cerebellar atrophy infarcts (due to vascular occlusive disorders) cerebral aneurysms dysgenesis of the corpus callosum Chiari malformations microcephaly arachnoid cysts chordoma Abdominal renal angiomyolipoma(s) TS accounts for 20% of all AMLs 4 AML's seen in 55 - 75% of patient with TS tend to be multiple, large, bilateral. tend to grow and require surgical treatment, as the probability of haemorrhage is proportional to the size micro and macro aneurysms may be present 4 fat may not be visible in up to 4.5% 6 renal cysts : the TSC2 gene is located adjacent to the PCKD1 gene 4 18-53% of patients with TS 6 renal cell carcinoma and on





end faqaq


Go to top