A 14 year old boy comes to the physician with complaints of seizures & some skin macule as shown below. What can be the probable diagnosis?
Ans. C. Tuberous sclerosisa. Above given image shows Ash leaf macule.b. It is the earliest manifestation of Tuberous sclerosis.c. This condition is Autosomal dominant.d. Clinical features of this disease are-- Seizures- Mental disability- Ash leaf macule- Adenoma Sebaceum- Shagreen patch(collagenoma)- Cortical tuberse. On MRI scan, subependymal nodules are seen.
Sturge weber syndrome
Turcot syndrome
Tuberous sclerosis
Von Hippel disease
C.N.S.