Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review

Abstract

Wilson's disease (WD) is an autosomal recessive disorder, in which the metabolism of copper is affected by metal accumulation in several organs that causes gradual organ degeneration. Since Wilson's initial description of WD over a century ago, there have been significant improvements in understanding and managing the condition. Nevertheless, the ongoing gap between the onset of symptoms and diagnosis highlights the difficulties in identifying this copper overload disorder early. Despite being a treatable condition, detecting WD early remains a challenge for healthcare professionals at all levels of care, likely due to its rarity. The key challenge is, therefore, to educate physicians on how to identify atypical or infrequent symptoms of WD, prompting them to consider the diagnosis more carefully. The purpose of our review is to draw attention to the difficulties associated with diagnosing pediatric WD, starting from our personal experience of a complex case and then examining relevant literature. In summary, the diagnosis of WD in children is intricate and requires a heightened level of suspicion to identify this infrequent condition. A thorough evaluation by a multidisciplinary team of physicians, along with genetic testing, histopathologic examination, and specialized imaging studies, may be necessary to confirm the diagnosis and guide treatment.

Keywords: Wilson’s disease; biopsy; children; cirrhosis; hemolytic anemia; laparoscopy.

Figure 1

Upper endoscopy revealing grade two esophageal varices. (A,B) figures reveal tortuous, enlarged blood vessels that occupy less than one-third of the lumen of the esophagus. Some of the varices also present ulcerations.

Figure 2

Laparoscopic examination of the liver. (A) This image reveals the dilated and distorted blood vessels suggestive for collateral vascularization, while (B) depicts the nodular and irregular surface of the liver, with a pale color specific for cirrhosis.

Figure 3

Liver biopsy from our patient presenting with cirrhosis secondary to previously unrecognized Wilson’s disease. (A): Gomori stain of hepatic tissue showing copper deposits; (B): Rhodanine stain of hepatic tissue showing copper deposits.

Figure 4

Urinary excretion of copper during the administration of copper chelators therapy.