Subependymal hamartomas are seen in patients with tuberous sclerosis. They are located along the ventricles and are mostly asymptomatic. As with other hamartomas, they grow at the same rate as the surrounding tissues.
On imaging, they appear as small intraventricular mass, smaller than 1 cm, and demonstrates variable signal in MRI, calcification and contrast enhancements.
Subependymal hamartomas are a well-known manifestation of tuberous sclerosis, affecting 80% of patients with the condition 1. They are visible within the first six months of age 2.
Subependymal hamartomas are often asymptomatic. When symptoms occur, they are usually a result of obstructive hydrocephalus from the mass effect to the ventricular system.
Subependymal hamartomas are small irregular nodules, measuring <1 cm, with their long axis perpendicular to the ventricular surface. They grow in proportion to the surrounding tissues and may calcify with increasing age.
- appear as small irregular intraventricular mass.
- smaller than 1 cm
- calcification is common (88%)
- accompanying hydrocephalus may be present
- variable contrast enhancement
- T1: variable signal, frequently hyperintense to grey matter
- T2: variable signal, frequently iso to hyperintense to grey matter
- T1 C+ (Gd): also shows variable enhancement
- Marked hypointense areas are in keeping with calcification
Treatment and prognosis
Subependymal hamartomas are mostly asymptomatic. However, they may progress to subependymal giant cell astrocytoma which may lead to obstructive hydrocephalus, causing morbidity or mortality. Therefore, surveillance is offered to patients with tuberous sclerosis.
Should these tumors become symptomatic or large, surgical treatment is required.
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- 2. Atlas SW. Magnetic resonance imaging of the brain and spine. Lippincott Williams & Wilkins. (2008) ISBN:078176985X. Read it at Google Books - Find it at Amazon
- 3. Kwiatkowski DJ, Whittemore VH, Thiele EA. Tuberous Sclerosis Complex, Genes, Clinical Features and Therapeutics. Wiley-VCH. (2010) ISBN:3527322019. Read it at Google Books - Find it at Amazon
- 4. Barkovich AJ. Pediatric neuroimaging. Lippincott Williams & Wilkins. (2005) ISBN:0781757665. Read it at Google Books - Find it at Amazon