A 2-year-old boy presents with history of recurrent seizures and developmental delay. On examination he is found to have multiple hypopigmented macules over the back. The most probable diagnosis of this child is:
Ans. B. Tuberous sclerosisThere are 5 neurocutaneous syndromes well known and tuberous sclerosis is one of them. All these conditions have certain cutaneous as well as CNS manifestations as the name itself implies. Common neurocutaneous syndromes include: Neurofibromatosis, Tuberous sclerosis, Von-Hippel Landau disease, Sturge weber syndrome and Ataxia telangiectasia.Hypopigmented spots also known as ash leaf spots are seen in Tuberous sclerosis. Other cutaneous manifestation in TS include adenoma sebaceum, shagreen patches, subungual fibromas and gingival fibromas.Cutaneous lesions in Neurofibromatosis include cafe - au lait spots which are hyperpigmented lesions ranging from light brown to dark brown.Sturge Weber syndrome is characterized by facial nevus flammens which is usually seen in the distribution of the first branch of trigeminal nerve.
Linear sebaceous nevus syndrome
Tuberous sclerosis
Neurofibromatosis
Von Hippel - Landau disease
Genetics And Genetic Disorders