Late diagnosis of Wilson's disease more than 10 years after the initial neuropsychiatric symptoms in two cases

2015 ◽  
Vol 53 (05) ◽  
Author(s):  
S László ◽  
D Németh ◽  
A Krolopp ◽  
A Folhoffer ◽  
F Szalay
Keyword(s):  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Wilson's Disease ◽  
Late Diagnosis

Wilson’s Disease Presenting With Haematuria and Swelling

2012 ◽  
Vol 23 (1) ◽  
pp. 51-52
Author(s):  
Pradip Kumar Dutta ◽  
Syed Md Jabed ◽  
Md Abul Kashem ◽  
Saibal Das ◽  
Md Nurul Huda
Keyword(s):  
Fanconi Syndrome ◽  
Wilson’S Disease ◽  
Disease Gene ◽  
Wilson's Disease ◽  
Late Diagnosis ◽  
Nephritic Syndrome ◽  
Rare Manifestation ◽  
Acute Nephritic Syndrome

Wilson’s disease gene located in Chromosime 3 is also expressed in Kidneys. So Wilson’s disease may have renal manifestations either as primary even or secondarily as Hepato renal syndrome. Patients commonly manifest as Fanconi syndrome or Urolithiasis. Haematuria and proteinuria is a rare manifestation. Here we are presenting a case who initially presented with haematuria and proteinuria (Acute nephritic syndrome) which masked features of Wilson’s disease and late diagnosis. JCMCTA 2012; 23(1): 51-52

scholarly journals Small fiber dysfunction in patients with Wilson's disease

2014 ◽  
Vol 72 (8) ◽  
pp. 592-595 ◽  
Author(s):  
Francisco de Assis A. Gondim ◽  
Davi F. Araújo ◽  
Ítalo S. Oliveira ◽  
Otoni Cardoso do Vale
Keyword(s):  
Autonomic Dysfunction ◽  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Wilson's Disease ◽  
Small Fiber Neuropathy ◽  
Disease Course ◽  
Neuromuscular Dysfunction ◽  
Small Fiber ◽  
Skin Wrinkling

Objective: Patients with Wilson’s disease (WD) may develop a wide variety of neuropsychiatric symptoms, but there are few reports of autonomic dysfunction. Here, we described evidence of small fiber and/or autonomic dysfunction in 4 patients with WD and levodopa-responsive parkinsonism. Method: We reviewed the charts of 4 patients with WD who underwent evaluation for the presence of neuromuscular dysfunction and water-induced skin wrinkling test (SWT). Results: Two men and 2 women (33±3.5 years) with WD were evaluated. They all had parkinsonism at some point during their disease course. Parkinsonism on patient 4 almost completely subsided with treatment of WD. Two patients had significant sensory and 2 significant autonomic complaints, including syncopal spells. NCS/EMG was normal in all but SWT was abnormal in half of them (mean 4-digit wrinkling of 0.25 and 1). Discussion: A subset of patients with WD exhibit evidence of abnormal skin wrinkling test (small fiber neuropathy).

Late diagnosis of wilson's disease: A single center experience over two decades

2002 ◽  
Vol 34 (9) ◽  
pp. 686
Author(s):  
A. Deplano ◽  
G. Garrucciu ◽  
A. Tocco ◽  
N.E. Manzoni ◽  
P. CossuRocca ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Late Diagnosis ◽  
Single Center ◽  
Single Center Experience

scholarly journals Clinical significance of self-descriptive apathy assessment in patients with neurological form of Wilson’s disease

2021 ◽  
Author(s):  
Marcin Leśniak ◽  
Magdalena Roessler-Górecka ◽  
Anna Członkowska ◽  
Joanna Seniów
Keyword(s):  
Wilson’S Disease ◽  
Rating Scale ◽  
Neuropsychiatric Symptoms ◽  
Executive Dysfunction ◽  
Wilson's Disease ◽  
Clinical Syndrome ◽  
Assessment Tools ◽  
Self Awareness ◽  
Clinical Scales ◽  
Proxy Version

Abstract Background and aim Apathy is one of the neuropsychiatric symptoms of Wilson’s disease (WD) which typically affects the brain’s fronto-basal circuits. Lack of agreed diagnostic criteria and common use of self-description assessment tools lead to underestimation of this clinical phenomenon. The aim of this study was to investigate whether subjective and informant-based clinical features of apathy in patients with WD enable clinicians to make a valid diagnosis. Methods Multiple aspects of goal-oriented behavior were assessed in 30 patients with the neurological form of WD and 30 age-matched healthy participants using two questionnaires, the Lille Apathy Rating Scale (LARS) and the Dysexecutive Questionnaire (DEX). Both included a self-descriptive and a caregiver/proxy version. Cognitive functioning was estimated with the use of Addenbrooke’s Cognitive Examination-Revised. Results Patients obtained significantly worse scores on all clinical scales when more objective measures were considered. Features of apathy and executive dysfunction were revealed in patients’ caregiver versions of LARS and DEX, which may indicate poor self-awareness of patients with WD. Roughly 30% of participants were likely to present with clinically meaningful symptoms, independent of cognitive dysfunction. Conclusions Methods relying on self-description appear inferior to informant-based scales when diagnosing apathy. More objective criteria and measurement tools are needed to better understand this clinical syndrome.

scholarly journals Kayser-Fleischer Ring evaluation in Wilson's Disease in a tertiary eye care centre of Nepal

2015 ◽  
Vol 4 (3) ◽  
pp. 17-20
Author(s):  
A K Sharma ◽  
S Sitaula ◽  
M Thapa ◽  
G S Shrestha ◽  
B P Gajurel ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Positive Family History ◽  
Measurement Data ◽  
Copper Metabolism ◽  
Cost Effective ◽  
Wilson's Disease ◽  
Medical College ◽  
The Status ◽  
F Ring

Wilson’s disease is a hereditary disorder of copper metabolism which is characterized by neuropsychiatric and hepatic manifestations as well as appearance of Kayser-Fleischer ring. This is a retrospective review of the records of the patients of Wilson’s disease who attended Neuro-ophthalmic clinic for the identification of Kayser-Fleischer (K-F) ring from January2010 to June 2012. Detailed eye examination included visual acuity assessment, slit lamp biomicroscopy and intra-ocular pressure measurement. Data regarding clinical features, laboratory investigations and the status of K-F ring was recorded. Seven cases of Wilson’s disease with age range of 9-15 years were included in the study. Among them four (57.1%) had neuropsychiatric symptoms, two (28.5%) had hepatic disease and one (14.3%) was asymptomatic, diagnosed by positive family history and laboratory tests. Among four subjects having K-F ring, three (75%) subjects had neuropsychiatric symptoms and one subject had hepato-billiary disease. Besides K-F rings, other ophthalmic findings were sunflower cataract (14.3%) and vernal keratoconjuctivitis (14.3%). The identification of K-F ring is a simple and cost effective screening test for the diagnosis of Wilson’s disease. K-F is present in majority of the patients with neurological manifestations. DOI: http://dx.doi.org/10.3126/jcmc.v4i3.11934Journal of Chitwan Medical College 2014; 4(3): 17-20 

Late diagnosis of Wilson's disease in a case without onset of symptoms

1995 ◽  
Vol 91 (4) ◽  
pp. 302-305 ◽  
Author(s):  
H. Hefter ◽  
P. Weiss ◽  
H. Wesch ◽  
W. Stremmel ◽  
D. Feist ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Late Diagnosis

scholarly journals Hypopituitarism in Wilson’s disease resolved after copper-chelating therapy

2021 ◽  
Vol 2021 ◽  
Author(s):  
Nina Dauth ◽  
Victoria T Mücke ◽  
Marcus M Mücke ◽  
Christian M Lange ◽  
Martin Welker ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Neuropsychiatric Symptoms ◽  
Molecular Genetic ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Pituitary Function ◽  
List Type ◽  
Copper Chelation ◽  
Gonadal Dysfunction ◽  
Chelating Therapy

Summary Wilson’s disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.2828G>A and c.3140A>T). Copper-chelating therapy with D-penicillamine and zinc was initiated along with supplementation of hydrocortisone and L-thyroxine. Hypopituitarism resolved when urinary copper excretion returned to normal levels under copper chelation. This case should raise awareness of pituitary function in WD patients. Learning points Hypopituitarism can complicate Wilson’s disease (WD) and endocrinologists should be aware of it when caring for hypopituitary patients. Hepatologists should consider endocrinologic testing for hypopituitarism when WD patients present with symptoms of adrenal insufficiency, thyroid or gonadal dysfunction. Copper-chelating treatment is mandatory and may lead to the recovery of pituitary function in such patients.

scholarly journals Psychiatric manifestations in Wilson’s disease: possibilities and difficulties for treatment

2018 ◽  
Vol 8 (7) ◽  
pp. 199-211 ◽  
Author(s):  
Tomasz Litwin ◽  
Petr Dusek ◽  
Tomasz Szafrański ◽  
Karolina Dzieżyc ◽  
Anna Członkowska ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Treatment Guidelines ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Cognitive Disorders ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Inherited Metabolic Disorder ◽  
Improve Treatment ◽  
Psychiatric Manifestations

Wilson’s disease (WD) is an inherited metabolic disorder related to disturbances of copper metabolism, and predominantly presents with liver and neuropsychiatric symptoms. In most cases it can be successfully treated with anti-copper agents, and both liver function and neuropsychiatric symptoms typically improve. Treatment guidelines for WD include recommendations for anti-copper treatment as well as for the treatment of liver failure symptoms. Recently, recommendations for treatment of the neurological symptoms of WD have also been proposed. Although most WD patients present with psychiatric symptoms at some stage of the disease, currently there are no guidelines for the treatment of the psychiatric manifestations. Treatment of the psychiatric symptoms of WD is often guided by general psychiatric experience, which typically glosses over the specificity of WD, and can result in severe neurological and/or hepatic complications. Here we review and discuss the possible treatments available for the mood disturbances, psychosis, behavioral and cognitive disorders that can occur in WD, as well as their efficacy.

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