To report a pediatric case of megakonial congenital dystrophy (CMD) which is a rare form of CMD. We report a 5 years old turkish boy who admitted for difficulties in walking and stair climbing since he began to walk . He was born from consaguineous parents and has no relevant family history. He had no symptoms at birth and started to walk independently at the age of 18 months. He had global developmental delay predominantly involving gross-motor and language domains. The levels of creatinine phosphokinase (CK) were persistently increased (484-241).

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