A 3-year-old male child presents with multiple episodes of seizures since early infancy, currently on valproate and oxcarbamazipine. O/E, there were cutaneous stigmata ( images A and B) with the normal systemic examination. Father also had a similar illness with few nail changes( image C). What is the most likely diagnosis:
McCune Albright syndrome
Sturge weber syndrome
Ans. A. Tuberous Sclerosis
Image A depicts a hypomelanotic lesion/ash leaf macule
Image B depicts a shagreen patch (leathery skin lesion, often seen on the torso/back)
Image C is of the father showing a periungual fibroma (indicative of the disease being probably autosomal dominant).
All these features are consistent with the diagnosis of tuberous sclerosis. It is inherited in an autosomal dominant manner (TSC1 and TSC1). These children often develop infantile spasms and other seizures due to cortical tubers and other neurological lesions.