A Neglected Case of Wilson Disease

Halimiasl, Aliasghar; Ghadamli, Parviz; Afshar, Solmaz Ehteshami; Moussavi, Farideh; Hosseini, Ahmad

doi:10.17795/compreped.8164

Cited by 2 publications

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References 10 publications

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“…Acute hepatitis has a wide variety of etiologies. Therefore, the correct diagnosis and selecting the appropriate therapy remains a clinical dilemma that pediatric gastroenterologists are faced in their practice with it ( 3 , 5 ). There are few cases with classical manifestations of WD and several features of AIH, simultaneously.…”

Section: Discussionmentioning

confidence: 99%

Simultaneous Presentation of Wilson’s Disease and Autoimmune Hepatitis; A Case Report and Review of Literature

et al. 2015

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Introduction:Coexistence of Wilson’s disease and autoimmune hepatitis has been rarely reported in English literature. In this group of patients, there exist features of both diseases and laboratory and histopathological studies may be misleading. Medical treatment for any of these entities, per se, may result in poor response. Therefore, by considering the acute hepatitis resembling Wilson’s disease and autoimmune hepatitis, simultaneous therapy with immunosuppressive and penicillamine may have a superior benefit.Case Presentation:We present the case of a 10-year-old boy with nausea, vomiting, yellowish discoloration of skin and sclera, abdominal pain and tea-color urine. Physical examination showed mild hepatomegaly and right upper quadrant tenderness. Laboratory and histochemical studies and atomic absorption test were done and the results were highly suggestive of both Wilson’s disease and autoimmune hepatitis, in him.Conclusions:This case study highlights, although rare, the coexistence of Wilson’s disease and autoimmune hepatitis and the need to maintain a high level of awareness of this problem. Therefore, it is reasonable to consider this type of hepatitis in rare patients, with dominant features of both diseases at the same time.

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Section: Discussionmentioning

confidence: 99%

Simultaneous Presentation of Wilson’s Disease and Autoimmune Hepatitis; A Case Report and Review of Literature

et al. 2015

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Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain

Isa,

Alahmed,

Busehail

et al. 2024

Cureus

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Introduction Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a mutation in the ATP7B gene. This mutation affects copper metabolism, leading to the accumulation of copper in the liver, brain, cornea, and other tissues. If not treated, WD can lead to significant morbidities. This study aimed to display the prevalence, clinical presentations, diagnosis, treatment, and outcome of WD in Bahrain. Methods This is a retrospective cohort study of patients diagnosed with WD in the Department of Pediatrics, Salmaniya Medical Complex, Manama, Kingdom of Bahrain, from March 2002 to July 2024. The diagnosis of WD was based on clinical presentations, laboratory markers, radiological imaging, and genetic testing. Results Up to July 2024, eight patients from four families were diagnosed with WD in Bahrain. Accordingly, the prevalence of WD was 1.7 patients per 100,000 (0.002%). Parental consanguinity was noted in all families. Males were equal to females (n=4, 50% each). The mean age at presentation was 13 ± 3.6 years, ranging from 9 to 21 years. Three patients (37.5%) presented with hepatic manifestations, two (25%) with neurological manifestations, and three (37.5%) were detected upon family screening. Kayser Fleischer (KF) rings were found in two (25%) patients via slit lamp examination. Of the seven patients with available data, five (71.4%) had low serum copper, six (85.7%) had low serum ceruloplasmin, and six (85.7%) had high 24-hour urinary copper. Genetic testing was positive for the ATP7B gene variants in all patients, of which four members of one family had a novel mutation. Abdominal ultrasound revealed hepatic cirrhosis in four (50%) patients, increased hepatic echogenicity in five (62.5%), splenomegaly in three (37.5%) patients, and ascites in one (12.5%) patient. Brain magnetic resonance imaging (MRI) was positive in three (50%) out of six patients. All patients received copper chelating therapy. Six (75%) patients survived; one of them underwent living-related liver transplantation due to rapidly progressive neurological symptoms. Two (25%) patients died due to hepatic failure and encephalopathy. Conclusion WD is a rare disorder in Bahrain. This study presents eight patients with WD from four families. Five patients were symptomatic at presentation, while three were diagnosed upon genetic family screening. Hepatic manifestations were the most common presentation, followed by behavioral changes and neurological symptoms. Two patients had KF rings, while three had classical brain MRI findings. Genetic testing served as a confirmatory diagnostic tool that revealed a diversity of variants causing the disease, of which one variant was a novel mutation. Despite oral chelating therapy, morbidity and mortality remain high in patients with WD.

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A Neglected Case of Wilson Disease

Cited by 2 publications

References 10 publications

Simultaneous Presentation of Wilson’s Disease and Autoimmune Hepatitis; A Case Report and Review of Literature

Simultaneous Presentation of Wilson’s Disease and Autoimmune Hepatitis; A Case Report and Review of Literature

Genetically Confirmed Wilson Disease: A Retrospective Cohort Study From Bahrain

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