scholarly journals Recurrent acute pancreatitis in a Wilson disease patient: an unusual association

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Sanjay Kumar ◽  
Sridhar Sundaram ◽  
Harish Darak ◽  
Suprabhat Giri ◽  
Shobna Bhatia
Keyword(s):  
Acute Pancreatitis ◽  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Disease Patient ◽  
Young Patients ◽  
Wilson's Disease ◽  
The Body ◽  
Multisystem Disorder ◽  
Recurrent Acute Pancreatitis ◽  
Urinary Copper

Abstract Background Wilson’s disease is a multisystem disorder with predominant clinical symptoms depending on the site of copper deposition in the body. Hepatic presentation is usually seen in the younger age group. And pancreatitis is rarely associated with Wilson’s disease. To the best of our knowledge, recurrent acute pancreatitis as a presenting manifestation in a WD patient has not been mentioned before in the literature. Case presentation We report a 17-year-old boy who presented with recurrent acute pancreatitis and subsequently developed deranged liver enzymes and ascites. Work up for the cause of recurrent acute pancreatitis was normal. Low ceruloplasmin (0.07 mg/dL), high 24-h urinary copper excretion (576 μg/day), and dry copper content in the liver (270 μg/g) clinched the diagnosis of Wilson’s disease. The patient was started on a low-copper diet and D-penicillamine therapy resulting in an improvement in symptoms and no further recurrence of pancreatitis. Conclusion The possibility of Wilson’s disease should be considered in young patients with recurrent acute pancreatitis, who have a protracted and obscure disease course.

scholarly journals Acute Pancreatitis as a Complication of Antiepileptic Treatment: Case Series and Review of the Literature

2021 ◽  
Vol 13 (1) ◽  
pp. 98-103
Author(s):  
Agnieszka Pawłowska-Kamieniak ◽  
Paulina Krawiec ◽  
Elżbieta Pac-Kożuchowska
Keyword(s):  
Valproic Acid ◽  
Acute Pancreatitis ◽  
Metabolic Disorders ◽  
Genetic Factors ◽  
Clinical Symptoms ◽  
Gallstone Disease ◽  
Young Patients ◽  
Case Series ◽  
Review Of The Literature ◽  
Acid Therapy

Acute pancreatitis (AP) appears to be rare disease in childhood. In children, it has a different aetiology and course, and requires different management than in adult patients. The diagnosis of AP is based on at least two of the three criteria, which include typical clinical symptoms, abnormalities in laboratory tests and/or imaging studies of the pancreas. There are many known causes leading to AP in children including infections, blunt abdominal trauma, genetic factors, gallstone disease, metabolic disorders, anatomical defects of the pancreas, systemic diseases, as well as drugs, including antiepileptic drugs, and especially preparations of valproic acid. In our study, we present four cases of young patients diagnosed with acute pancreatitis as a complication of valproic acid therapy and we present a review of the literature. We believe that the activity of pancreatic enzymes should be monitored in children treated with valproate preparations in the case of clinical symptoms suggesting AP.

scholarly journals Cholangiocarcinoma in Wilson’s Disease – a Case Report

2017 ◽  
Vol 26 (3) ◽  
pp. 305-308
Author(s):  
Dániel Németh ◽  
Anikó Folhoffer ◽  
Gábor Smuk ◽  
Béla Kajtár ◽  
Tamás Tornóczky ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Treatment Initiation ◽  
Clinical Symptoms ◽  
Rapid Development ◽  
Primary Tumour ◽  
Chelating Agent ◽  
Wilson's Disease ◽  
Protective Role ◽  
Ceruloplasmin Level

It has been suggested that hepatobiliary carcinomas are less frequent in Wilson’s disease (WD) than in liver diseases of other etiology. However, the protective role of copper against malignancies is debated. Only a few cases of cholangiocarcinoma (CCC) in WD have been published. Here we report on a case of a 47-year-old male H1069Q homozygous, Kayser-Fleischer ring positive WD patient with a low ceruloplasmin level who was followed up and treated with chelating agents throughout nine years. The patient presented with neurological symptoms and liver cirrhosis at diagnosis. Clinical symptoms regressed after the treatment initiation. Rapidly developed tumour metastases were found in the bones, lung and liver (without jaundice). Autopsy revealed cholangiocarcinoma as the primary tumour confirmed by strong CK7 positivity and glypican-3 negativity. The curiosity of the presented case is the very rapid development of CCC despite continuous chelating agent therapy.Abbreviations: CCC: cholangiocarcinoma; HCC: hepatocellular carcinoma; WD: Wilson disease.

Wilson's Disease

1984 ◽  
Vol 5 (7) ◽  
pp. 217-222
Author(s):  
Caroline A. Riely
Keyword(s):  
Wilson’S Disease ◽  
Acute Phase Reactant ◽  
Wilson's Disease ◽  
Clinical Findings ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Ferric Ions ◽  
Pediatric Age Group ◽  
Life Threatening ◽  
Response To Stress

Wilson's disease (hepatolenticular degeneration) is a relatively rare cause of illness in the pediatric age group. But, as a chronic life-threatening disease that is treatable, even "curable," its investigation should be thoroughly pursued by the pediatrician. The recognition of Wilson's disease provides the opportunity to prevent this illness in presymptomatic family members. Therefore, Wilson's disease should be included in the differential diagnosis of all forms of liver disease in pediatrics and appropriately excluded. The clinical findings that are compatible with a diagnosis of Wilson's disease are protean, and confirming or denying this diagnosis is often difficult. In order to appreciate these problems, it is necessary first to understand the normal physiology of copper in the body and the derangements in this homeostasis that characterize Wilson's disease (Fig 1). COPPER HOMEOSTASIS Normal Copper is absorbed from the diet in excess of the body's requirement for it. Many foods contain copper, but chocolate, nuts, mushrooms, liver, and shellfish are particularly rich sources. Once absorbed, copper is transported free in the blood to the liver. Here, a certain fraction is incorporated in an irreversible fashion into ceruloplasmin. This copper-containing protein separates in the α2-globulins, can be an acute-phase reactant, increasing in concentration in response to stress. Alternatively, in the presence of hepatic failure with decrerased protein synthesis, its concentration in blood decreases. Ceruloplasmin is an oxidative enzyme used in a variety of pathways, including the oxidation of ferrous to ferric ions.

Focal Ballismus (Right Arm) in a Boy with Wilson's Disease

2020 ◽  
Author(s):  
Roshan Koul ◽  
Priti Vijay ◽  
Rajeev Khanna ◽  
Seema Alam
Keyword(s):  
Basal Ganglia ◽  
Subthalamic Nucleus ◽  
Wilson’S Disease ◽  
Involuntary Movement ◽  
Wilson's Disease ◽  
Vascular Trauma ◽  
The Body ◽  
Lower Limbs ◽  
Rare Entity ◽  
The Right

AbstractBallismus is defined as rapid, forceful, shaking or throwing involuntary movement of the extremities, mainly proximal parts. When it affects half of the body (upper and lower limbs on one side), it is called hemiballismus. If it affects one limb, it could be labeled as focal or one limb ballismus. Any lesion (vascular, trauma, tumor, deposition, and demyelination) in the subthalamic nucleus of the basal ganglia results in ballismus. A rare entity such as copper deposition in Wilson's disease can manifest as ballismus. We describe a boy with Wilson's disease with focal ballismus of the right arm.

Macromastia with Multiple Fibroadenomas in a Wilson's Disease Patient

2004 ◽  
Vol 4 (2) ◽  
pp. 115
Author(s):  
Hoon Hyuk Kim ◽  
Gi Young Sung ◽  
Jong Min Baek ◽  
Do Sang Lee ◽  
Wook Kim ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Disease Patient ◽  
Wilson's Disease

scholarly journals DIAGNOSIS AND MANAGEMENT OF PANCREATIC MUCINOUS CYSTADENOMA

2015 ◽  
Vol 2 (2) ◽  
pp. 63-67
Author(s):  
Lidia Ladea ◽  
Andreea Nicoleta Costache ◽  
F. C. Blăjuț ◽  
V. Tomulescu
Keyword(s):  
Acute Pancreatitis ◽  
Therapeutic Option ◽  
Malignant Lesion ◽  
Mucinous Cystadenoma ◽  
Rare Condition ◽  
The Body ◽  
Pancreatic Cysts ◽  
Benign Tumors ◽  
Recurrent Acute Pancreatitis ◽  
Mucinous Cystadenomas

Pancreatic mucinous cystadenomas (MCAs) are considered to be benign tumors with a high risk of malignant progression. The pancreatic mucinous cystadenoma is considered to be a rare condition that may lead to pancreatic cancer when not surgically resected. MCAs represent 9.7% of all neoplastic pancreatic cysts. The male:female ratio of MCAs is 1:10. The condition appears mostly in women, mean age in the 5th decade. The cyst is restricted by a fibrous capsule of variable consistency and has usually no communication with the pancreatic ductal system. The MCAs are located mostly in the body or tail of the pancreas. The MCAs located in the head of the pancreas are more likely to be malignant. Complete surgical resection is the recommended therapeutic option. We present a case of a 59-year-old female patient admitted in the Departemt of Surgery and Liver Transplatation of Fundeni Clinical Institute for recurrent episodes of acute pancreatitis. After a thorough investigation was performed, the CT-examination showed a pancreatic mass, located in the tail, measuring 30/40mm. Because the CT aspect was specific for a cystic-like lesion, surgery was recommended. The patient underwent a laparoscopic caudal splenopancreatectomy with a favorable postoperative evolution. The particularity of the case comes from the patient’s clinical presentation, with recurrent acute pancreatitis and the imagistic aspect (ultrasound and CT) that initially suggested a pseudocystic-like lesion, but the elevated CA 15-3 and further elaborated examinations indicated a possible malignant lesion.

scholarly journals Association of variants in the CP, ATOX1 and COMMD1 genes with Wilson disease symptoms in Latvia

2019 ◽  
Vol 22 (2) ◽  
pp. 37-42
Author(s):  
A Zarina ◽  
I Tolmane ◽  
Z Krumina ◽  
AI Tutane ◽  
L Gailite
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Direct Sequencing ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Allelic Variants ◽  
Functional Changes ◽  
Pathogenic Variants ◽  
Genotype Frequencies

AbstractWilson’s disease (WD) is a copper metabolism disorder, caused by allelic variants in the ATP7B gene. Wilson’s disease can be diagnosed by clinical symptoms, increased copper and decreased cerulopasmin levels, which could all also be by other genetic variants beyond the ATP7B gene, e.g., disturbed ceruloplasmin biosynthesis can be caused by pathogenic allelic variants of the CP gene. Copper metabolism in the organism is affected by several molecules, but pathogenic variants and related phenotypes are described with COMMD1 and ATOX1 genes. The aim of the study was to test other genes, CP, ATOX1 and COMMD1, for possible influence to the manifestation of WD. Patients were enrolled on the basis of Leipzig’s diagnostic criteria, 64 unrelated patients with confirmed WD. Direct sequencing of promoter region of the CP gene and ATOX1 and COMMD1 gene exons was conducted. Statistically significant differences were found between the two variants in the CP gene and the ATP7B genotype (rs66508328 variant AA genotype and the rs11708215 variant GG genotype) were more common in WD patients with an unconfirmed ATP7B genotype. One allelic (intronic) variant was found in the ATOX1 gene without causing the functional changes of the gene. Three allelic variants were identified in the COMMD1 gene. No statistically significant differences were found between allele and genotype frequencies and the first clinical manifestations of WD. Different variants of the CP gene contributed to a WD-like phenotype in clinically confirmed WD patients with neurological symptoms and without identified pathogenic variants in the ATP7B gene. Allelic variants in the ATOX1 and COMMD1 genes do not modify the clinical manifestation of WD in Latvian patients. (266 words)

scholarly journals INITIAL ASSESSMENT FINDINGS IN PATIENTS WITH CONFIRMED WILSON’S DISEASE

2021 ◽  
Vol 5 (2) ◽  
pp. 161-167
Author(s):  
O. A. Zhigaltsova-Kuchinskaya ◽  
◽  
N. N. Silivontchik ◽  
S. A. Likhachev ◽  
I. V. Pleshko ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Molecular Genetic ◽  
Wilson's Disease ◽  
Clinical Suspicion ◽  
Initial Assessment ◽  
Serum Free ◽  
Copper Excretion ◽  
Serum Ceruloplasmin ◽  
Urinary Copper ◽  
Urinary Copper Excretion

Bacground. The optimization of Wilson’s disease (WD) diagnosis is one of the most disputable problem. Objective. The retrospective study of initial assessment findings under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Material and methods. The results of laboratory tests and Kaiser-Fleischer rings (KF rings) identification under clinical suspicion for WD in 102 patients with the confirmed diagnosis. Results. At stage I, 17 patients (16.7%; 95% CI 10.7–25.1) were defined as having clinically definitive WD based on the combination of low serum ceruloplasmin and KF rings, 4 patients (3.9%; 95% CI 1.5–9.7) – based on the drop of ceruloplasmin level. After stage II, involving 24-hour urinary copper excretion evaluation, the rate of definitive diagnosis of WD reached 24,5% (95% CI 17.2 33.7). After stage III (genotyping for carriage of ATP7B gene mutations) – 56.9% (95% CI 47.2–66.0). Serum free copper increase was found in 54.9% (95% CI 41.4 67.7) of cases. Conclusions. Under clinical suspicion for WD, initial structured ophthalmological, laboratory and molecular-genetic assessment ensured the diagnosis of WD only in 56.9% (95% CI 56.9; 47.2–66.1). Frequent detection of serum free copper increase (54.9%, 95% CI 41.4 67.7) allows to use this test due to its greater availability as compared with 24-hour urinary copper excretion evaluation in WD diagnostics.

On dermatitis exfoliativa universalis subacata (Wilson's disease)

1926 ◽  
Vol 22 (11) ◽  
pp. 1272-1277
Author(s):  
I. A. Levin
Keyword(s):  
Wilson’S Disease ◽  
Skin Diseases ◽  
Clinical Symptoms ◽  
Wilson's Disease ◽  
Characteristic Features ◽  
The 1960S

The classification of skin diseases, despite the successes of dermatology, is still incomplete. There is no single principle that would meet all its requirements, and the confusion that prevailed in the 1960s, not to mention the earlier ones, when, without knowing the essence of most skin diseases, they were grouped only by clinical symptoms, has not disappeared until now. Especially it concerns the diseases close to pityriasis rubra Negae, the characteristic features of which are redness and peeling.

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