Abstract
Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.
| Original language | English |
|---|---|
| Pages (from-to) | 878-881 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 167 |
| Issue number | 4 |
| DOIs | |
| State | Published - Apr 1 2015 |
Keywords
- Encephalocraniocutaneous
- Glioma
- Lipomatosis
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