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: Signs of tuberous sclerosis can appear later in childhood or even into adulthood. These symptoms may include: White spots on the skin (called hypopigmented macules) that glow under a special lamp A rash on the face (called facial angiofibromas) that may look like acne Problems with the kidneys (associated with growths in the kidneys) Areas of very thick skin, often on the back Growths under or around the nails Pitted teeth Coughing or shoness of breath Mental disabilities. Developmental delays Autism spectrum disorder Reference: GHAI Essential pediatrics, 8th edition
Category:
Pediatrics
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