Abstract

DOMINGUES, Mariana; FERREIRA, Sandra  and  GONCALVES, Isabel. Wilson disease in an obese child. J Port Gastrenterol. [online]. 2013, vol.20, n.5, pp.215-218. ISSN 0872-8178.  https://doi.org/10.1016/j.jpg.2013.03.003.

We present a case of a symptom-free girl with a long history of overweight/obesity, referred for suspected nonalcoholic steatohepatitis. She presented elevated liver enzymes and a liver ultrasound with steatosis. Despite initial weight loss and the improvement of liver enzymes, the detection of a low caeruloplasmine level lead to further evaluation, including genetic and molecular biology tests, which confirmed Wilson Disease. Most obese children have nonalcoholic steatohepatitis and a few will suffer from other disease. Wilson Disease is an autossomal recessive disorder of copper metabolism with protean manifestation. Liver disease is the predominant presentation in children. Wilson Disease must be excluded in every cases of liver disease of unknown origin. Increased awareness of Wilson Disease in the pediatric population should lead to earlier diagnosis and improve the prognosis of this serious, but treatable, inborn error of metabolism.

Keywords : Wilson Disease; Obesity; Copper; ATP7B; Pediatric; Liver.

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