A 7-year-old male patient presented with ceain lesions on the face and the lumbosacral region. Patient also gave a history of frequent episodes of seizures for which NCCT head was done. Which of the following chromosomes is involved in the above disease: –
Correct Answer: 22q
Description: THIS IS A CLASSICAL CASE OF TUBEROUS SCLEROSIS. Image A is of Adenoma sebaceum over face Image B is of Shagreen patch over lumbosacral region. Image C is cranial CT showing Subependymal nodules in lateral ventricles. All these findings are characteristic features of TUBEROUS SCLEROSIS inherited in AUTOSOMAL DOMINANT manner. The gene involved is TSC1/hamain on chromosome 9p34. 22q and 17q are involved in neurofibromatosis 2 and 1 respectively. Other impoant features of tuberous sclerosis: Ash leaf macule Koenens tumour (periungual fibroma) Renal angiomyolipoma Ash leaf macules Retinal hamaoma Pulmonary lymphangiomyomatosis. Vogt's triad: epilepsy + low iq +adenoma sebaceum. Infantile spasm
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