A 2year 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 (AIIMS Nov 2014)
|A||Neurofibromatosis type I|
|C||Sturge weber's syndrome|
|D||Linear Sebaceous nevus syndrome|
History of seizures and multiple hypopigmented macules over the back (ash leap patch) suggest the diagnosis of tuberous sclerosis.
Criteria for diagnosis tuberous sclerosis
o Criteria for diagnosis of tuberous sclerosis complex have been revised.
o 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.
1. Facial angiofibromas or forhead plaques
2. Nontraummatic ungula or periungual fibroma
3. Hypomelanotic macules (more than 3)
4. Shagree patch (connective tissue nevus)
5. Multiple retinal nodular hamartomas
6. Cortical tuber
7. Subependymal nodule
8. Subependymal giant cell astrocytoma
9. Cardiac rhabdomyoma, single or multiple
11. Renal angiomylipoma
1. Multiple randomly distributed pits in dental enamel
2. Hamartomatous rectal polyps
3. Bone cysts
4. Cerebral white matter radial migration lines
5. Gingival fibromas
6. Nonrenal hamartomas
7. Retinal achromic (pale, without color) patch
8. “Confetti” Skin lesions
9. Multiple renal cysts