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Congenital fiber‐type disproportion presenting as ventricular fibrillation

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being entirely supportive. It is important that it be diagnosed early, to manage and prevent complications as much as possible. Unfortunately, renal dysfunction in the present patient had not been… Click to show full abstract

being entirely supportive. It is important that it be diagnosed early, to manage and prevent complications as much as possible. Unfortunately, renal dysfunction in the present patient had not been detected early and had progressed considerably, although, in retrospect, it had followed a typical clinical course of NPHP with several signs, such as nocturnal enuresis (polyuria), refractory anemia, and short stature, which had provided opportunities for its discovery at earlier stages. Moreover, femoral bone cyst, which was detected at the age of 11, was a valuable opportunity for detection of chronic renal failure. In conclusion, this case is an important reminder of the difficulty and significance of detecting NPHP in the early stages, and shows that renal osteodystrophy should be considered an important differential diagnosis of cystic bone lesions.

Keywords: presenting ventricular; congenital fiber; disproportion presenting; fiber type; ventricular fibrillation; type disproportion

Journal Title: Pediatrics International
Year Published: 2017

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