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Treatment:
Medical
- Antiepileptic medications
- Renal lesion monitoring, with ultrasound or CT
- Developmental disorder and psychiatric testing
- Laser treatment for facial angiofibromas
- SEGA resection for symptomatic hydrocephalus. Refractory seizure patients could benefit from tuber resection.
Key points
- Phakomatoses are syndromes caused by abnormal differentiation of neuroectodermal tissues. They include Tuberous Sclerosis, Von-Hippel Lindau, Sturge-Weber, Neurofibromatosis, and Ataxia-Telangectasia.
- The classic clinical triad in Tuberous Sclerosis is adenoma sebaceum, mental retardation, and seizures.
- CNS manifestations include subependymal hamartomas, tubers, and subependymal giant cell astrocytomas.
- Although benign, SEGAs often cause hydrocephalus. which can be fatal.
- Extra-CNS manifestations include retinal hamartomas, renal angiomyolipomas, renal cysts, cardiac rhabdomyomas, and lymphangioleiomyomatosis.
- Renal angiomyolipomas over 4 cm are at risk for severe hemorrhage.
We welcome your feedback, please send questions and comments to Marcel Maya, MD
