A Case Report of Misdiagnosis of Psychotic Symptoms Predominant Wilson's Disease

Shah, Bhupendra; Limbu, Suren

doi:10.4103/jnrp.jnrp_515_17

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Cu overaccumulation in the heart tissues may contribute to WD development [ 3 , 4 ]. To determine the effects of GDL on Cu excretion in the heart tissue, Cu levels in the heart tissues were determined after 42 h of exposure by using an ICP-OES.…”

Section: Resultsmentioning

confidence: 99%

“…Hepatolenticular degeneration or Wilson’s disease (WD) is a rare autosomal recessive inherited disorder of copper (Cu) metabolism [ 1 , 2 ]. It was first defined by Kinnear Wilson in 1912 [ 3 ]. WD, characterized by the overaccumulation of Cu in the kidneys, brain, liver, and other vital organs, results from a ceruloplasmin synthesis obstacle and abnormal biliary Cu excretion induced by the ATP7B mutation [ 1 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Gandouling Mitigates CuSO4-Induced Heart Injury in Rats

Fang

Yang

Zhang

et al. 2022

Animals

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We assessed the protective effects of Gandouling (GDL) on copper sulfate (CuSO4)-induced heart injuries in Sprague–Dawley rats, which were randomly divided into the control, CuSO4, GDL + CuSO4 and penicillamine + CuSO4 groups. The rats received intragastric GDL (400 mg/kg body weight) once per day for 42 consecutive days after 56 days of CuSO4 exposure, and penicillamine was used as a positive control. The levels of plasma inflammatory cytokines (IMA, hFABP, cTn-I and BNP) were determined using the enzyme-linked immunosorbent assay. The histopathological symptoms were evaluated using hematoxylin and eosin staining and transmission electron microscopy. To determine the underlying mechanism, Western blotting was conducted for the detection of the heme oxygenase 1 (HO-1) expression. The results revealed that GDL supplementation alleviated the histopathological symptoms of the rat heart tissue, promoted Cu excretion to attenuate impairment, and significantly decreased inflammatory cytokine levels in the plasma (p < 0.01). In addition, GDL increased the HO-1 expression in the rat hepatic tissue. The protective effect of GDL on the heart was superior to that of penicillamine. Overall, these findings indicate that GDL alleviates hepatic heart injury after a Cu overaccumulation challenge, and GDL supplements can be beneficial for patients with Wilson’s disease.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Gandouling Mitigates CuSO4-Induced Heart Injury in Rats

Fang

Yang

Zhang

et al. 2022

Animals

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“…A two year study of records of patients at Ophthalmology at a Tertiary Center in Kathmandu reports seven patients with Kayser-Fleischer rings [55]. Several other cases diagnosed similarly have been reported from other major hospitals in Nepal [[56], [57], [58], [59]]. Another case of a 26 year old male with tremors was diagnosed to be Wilson's disease based upon the presence of Kayser-Fleischer rings, low serum ceruloplamin and a high 24 h urinary copper concentration [60].…”

Section: Resultsmentioning

confidence: 99%

Case reports of metabolic disorders from Nepal

Pandey

2019

Molecular Genetics and Metabolism Reports

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BackgroundThe prevalence of metabolic disease in Nepal is largely unknown. Some consideration has been given by the nepalese government for high prevalence of congenital disorders in some populations, but disorders due to enzymatic deficiencies have not been considered as a class of diseases where timely diagnosis and intervention might be possible. No case for these disorders has been made so far, however, findings of many rare metabolic diseases have been reported in literature by the nepalese medical fraternity.MethodsA search for case reports on metabolic disorders listed according to International Classification of Diseases −11 was performed using the google search engine.ResultsA total of 443 cases have been discovered presented in the literature. This does not include disorders that might be due to lifestyle and behaviour. Most of the reported cases have been identified based on clinical acumen, radiological and histopathological findings.ConclusionsGlucose 6 phosphate dehydrogenase deficiency, Wilson's disease and lysosomal disorders should be considered for early diagnosis through newborn screening along with the acknowledged disorders hypothyroidism and hemoglobinopathies in Nepal. Early intervention in these disorders can significantly reduce morbidity and mortality in infancy.

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Wilson disease

Aggarwal

Bhatt

2020

Current Opinion in Neurology

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Purpose of review The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. Recent findings Knowledge of the clinical spectrum of Wilson disease has expanded with recognition of patients who present in atypical age groups – patients with very early onset (<5 years) and those in whom symptoms present in mid-to-late adulthood. A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been identified. In addition to a better understanding of the phenotype of Wilson disease itself, features of some related disorders (‘Wilson disease-mimics’) have been described leading to a better understanding of copper homeostasis in humans. These disorders include diseases of copper disposition, such as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome, Niemann–Pick type C, and certain congenital disorders of glycosylation, as well as analogous disorders of iron and manganese metabolism. Outcomes for existing treatments, including in certain patient subpopulations of interest, are better known. Novel treatment strategies being studied include testing of bis-choline tetrathiomolybdate in phase 2 clinical trial as well as various preclinical explorations of new copper chelators and ways to restore ATP7B function or repair the causative gene. Summary Recent studies have expanded the phenotype of Wilson disease, identified rare inherited metal-related disorders that resemble Wilson disease, and studied long-term outcomes of existing treatments. These developments can be expected to have an immediate as well as a long-term impact on the clinical management of the disease, and point to promising avenues for future research.

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A Case Report of Misdiagnosis of Psychotic Symptoms Predominant Wilson's Disease

Cited by 4 publications

References 9 publications

Gandouling Mitigates CuSO4-Induced Heart Injury in Rats

Gandouling Mitigates CuSO4-Induced Heart Injury in Rats

Case reports of metabolic disorders from Nepal

Wilson disease

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