Stories about: Tuberous Sclerosis Program

Tuberous sclerosis: Clinical clues for early diagnosis

A scan of the brain of a tuberous sclerosis patient.

Tuberous sclerosis is a rare neurological condition characterized by benign tumor growth in various parts of the body. It often affects the brain, eventually causing epilepsy and neurodevelopmental disorders. One challenge has been diagnosing the condition in infants, as they often don’t present with many clinical signs. However, a recent study published in Pediatrics has shed some light on early manifestations of this condition that may help lead to earlier diagnosis — and possibly earlier and more aggressive treatment.

To better understand clinical clues that may be seen in pediatric practice, Notes sat down with principal investigator of the study, Mustafa Sahin, MD, PhD, director of the Translational Neuroscience Center at Boston Children’s Hospital. He and his team in the Tuberous Sclerosis Program at Boston Children’s follow about 300 children with the condition. …Read More

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