A 2 year old child is brought by parents with history of seizures and developmental delay. He has multiple hypopigmented macules over the back. What is the most probable diagnosis –
Correct Answer: Tuberous sclerosis
Description: History of seizures and multiple hypopigmented macules over the back (ash leap patch) suggest the diagnosis of tuberous sclerosis.
Criteria for diagnosing tuberous sclerosis
Criteria for diagnosis of tuberous sclerosis complex have been revised.
The features have been divided into major features and minor features : -
Definitive diagnosis ---> Either 2 major features or 1 major plus 2 minor features.
Probable diagnosis --> 1 Major plus 1 minor features
Possible diagnosis --> 1 Major feature or 2 or more minor features
Category:
Pediatrics
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