A patient presents with seizures, adenoma sebaceum and mental retardation. What is the diagnosis?
(B) Tuberous sclerosis # In 1908 Vogt set forth the triad of intractable epilepsy, mental retardation, and adenoma sebaceum represents Hallmark of tuberous sclerosis complex (TSC) to most clinicians# Major features:> Facial angiofibromas or forehead plaque> Nontraumatic ungual or periungual fibroma> Hypomelanotic macules (> 3)> Shagreen patch (connective tissue nevus)> Multiple retinal nodular hamartoma> Cortical tuber: When cerebellar cortical dysplasia and cerebral white matter migration tracts occur together, they should be counted as one rather than two features of tuberous sclerosis.> Subependymal nodule> Subependymal giant cell astrocytoma> Cardiac rhabdomyoma, single or multiple> Lymphangioleiomyomatosis: When both lymphangioleiomyomatosis (LAM) and renal AMLs are present, other features of tuberous sclerosis should be present before a definite diagnosis is assigned.> As many as 60% of women with sporadic LAM (and not TSC) may have a renal or other AMLs.> Renal AML: When both LAM and renal AMLs are present, other features of tuberous sclerosis should be present before a definite diagnosis is assigned (see previous remarks).> Minor features> Multiple randomly distributed pits in dental enamel> Hamartomatous rectal polyps: Histologic confirmation is suggested.> Bone cysts: Radiographic confirmation is sufficient.> Cerebral white matter radial migration lines: Radiographic confirmation is sufficient. One panel member felt strongly that 3 or more radial migration lines should constitute a major sign.> Gingival fibromas> Nonrenal hamartoma: Histologic confirmation is suggested.> Retinal achromic patch> "Confetti" skin lesions> Multiple renal cysts:
Sturge Weber syndrome
Tuberous sclerosis
Neurofibromatosis
Neurocysticercosis
Miscellaneous