Search

Wilson's disease, also known as hepatolenticular degeneration, is a rare genetic metabolic disorder that leads to excessive accumulation of copper in the body, particularly in the liver and brain. This results in the gradual damage of these organs and leads to a variety of clinical symptoms. The symptoms of Wilson's disease can be diverse, leading to a broad spectrum of clinical manifestations including fatigue, jaundice, hand tremors, mood disorders, difficulty walking, speech disturbances, as well as neurological and psychiatric issues.The treatment of Wilson's disease typically involves the oral administration of copper-chelating agents, which help the body to eliminate the excess copper. In some cases, symptomatic treatment related to liver or brain damage may also be necessary. The diagnosis of Wilson's disease is based on laboratory tests, imaging studies (such as MRI or CT scans), and the assessment of clinical symptoms. Due to the variety of symptoms, patients are often misdiagnosed, and untreated Wilson's disease inevitably leads to death. Genetic testing can also be useful in confirming the diagnosis. Although Wilson's disease is a chronic condition, with appropriate treatment and monitoring, its symptoms can be effectively managed, and further damage to the liver and brain can be prevented. Regular monitoring of copper levels in the blood, as well as liver and brain function, is crucial for the effective management of Wilson's disease.

Wilson's disease is a genetic neurometabolic disorder affecting copper metabolism in the body. It occurs due to mutations in the ATP7B gene. Here, we report a case of a 12-year-old boy, born out of a second-degree consanguineous marriage, who presented with complaints of jaundice for the past one year, poor scholastic performance, and behavioral abnormalities for the past one month. There was a history of multiple suicides in the maternal family, and liver disorder in the maternal uncle. Various examinations revealed jaundice, Kayser-Fleischer ring in eyes, and dystonia of the extremities with hepatosplenomegaly. Copper studies were inconclusive, and neuroimaging showed characteristic findings specific for Wilson's disease. The child was treated with a low-copper diet, vitamin K, oral zinc acetate, oral D-penicillamine, trihexyphenidyl, baclofen, clonazepam, and propranolol., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, D et al.)

Wilson's disease (WD), or "hepato-lenticular degeneration," is a rare genetic disorder of autosomal recessive inheritance causing toxic tissue accumulation of copper, mainly in the liver, brain, and cornea. Its phenotypic and genotypic heterogeneity characterizes it. This study aimed to clarify the clinical features and spectrum of Wilson's disease in children from the eastern region of Morocco and to study the evolutionary profile and survival in this population while discussing and highlighting the various diagnostic and therapeutic difficulties encountered in the management of WD in our context. This retrospective study encompassed 24 children diagnosed with Wilson's disease, selected from the gastroenterology-hepatology and pediatric nutrition units at Mohamed VI University Hospital in Oujda, Morocco, over a span of nine years, from January 2015 to November 2023. Our series results show 14 boys and 10 girls; the median age of discovery was 11 years, with extremes ranging from 18 months to 15 years. The consanguinity was found in 13 patients. Clinically, the edemato-ascitic syndrome was noted in 14 patients with an alteration of the general state; icterus was found in 13 patients; signs of portal hypertension were present in six patients; and neurological signs in seven cases. Skin manifestations occurred in three cases, and arthralgia in three cases. Six children were diagnosed on the occasion of a family screening. Biologically, hepatic cytolysis was found in 20 patients, with signs of hepatocellular failure in 15 cases. Hemolytic anemia was present in nine patients. Ceruloplasminemia was decreased in 21 patients and cupremia in 19 patients. Cupruria was increased in 22 cases. The Kayser-Fleicher ring was found in 10 cases. Abdominal ultrasound showed ascites in 16 patients, hepatomegaly in 1, splenomegaly in two cases, hepatosplenomegaly in five cases, and cirrhosis in two. MRI showed signal abnormalities in 11 patients. Therapeutically, D-penicillamine was initially introduced in 18 patients and zinc acetate in 6 patients. The evolution was favorable for 15 patients still followed up in the department. Three patients died of hepatocellular failure, and two died of hepatic encephalopathy. Four patients were lost to follow-up., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2024, Rkain et al.)