An 8-year-old mentally retarded child presents with left side flank pain. On ultrasound hyperecoice lesion is seen in right kidney and multiple lesions in the liver. CT scan of abdomen shows -50 to -60 HU density of the lesions in kidney and liver. The most probable diagnosis is:
Correct Answer: Tuberous sclerosis
Description: (Refer: Nelson’ss textbook of pediatrics, 19th edition, pg no: 2049-2052)
Tuberous sclerosis (Bourneville's disease/ Epiloa)
Autosomal dominant inheritance.
Mutations in TSC-1 gene at 9q - encodes Tuberln.
Mutations inTSC-2 gene at 16 p - encodes Hamartin.
Category:
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