Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease.

ABSTRACT: Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acute onset anarthria as the heralding and predominant presenting feature has been rarely reported in the literature. We reported a case of a 12-year-old girl who presented with acute onset anarthria and dystonia of 1-month duration. On further evaluation, a diagnosis of WD was made. The patient showed partial improvement after she was started on copper chelating agents and anticholinergics.

SUBMITTER: Verma R

PROVIDER: S-EPMC3761678 | biostudies-other | 2013

REPOSITORIES: biostudies-other

ACCESS DATA

Json Xml

Publications

Acute onset anarthria without hepatic manifestation: a rare presentation of Wilson disease.

Verma Rajesh R Bhandari Aveg A Tiwari Navin N Chaudhari Tejendra S TS

BMJ case reports 20130820

Wilson disease (WD) is one of the few inherited but treatable disorder mainly affecting the liver and brain resulting in severe disability or death if left untreated. Hence, it is important to keep a high index of suspicion for diagnosing this clinical entity in appropriate clinical settings. The clinical presentation can be quite variable and they may present solely with neurological features sans hepatic symptoms. Such neurological manifestations usually follow subacute to chronic course. Acut ...[more]

PMID: 23966348

Similar Datasets

Wilson disease with hepatic presentation in an eight-month-old boy.

Project description:Wilson disease is an autosomal recessive disorder of copper metabolism that can cause fatal neurological and hepatic disease if not diagnosed and treated. The youngest child with normal liver function reported so far is an 8-mo-old Japanese boy with low ceruloplasmin levels, and the youngest child with elevated aminotransferase ever reported so far is a 9-mo-old Korean boy with confirmed by genetic testing. Here we report an 8-mo-old Chinese boy presented with elevated liver enzymes, and low serum ceruloplasmin level. Genetic analysis of ATP7B gene detected two heterozygous disease causing mutations (c.2621C>T/p.A874V and c.3809A>G/p.N1270S), and parental origins were determined. Persistent elevation of serum aminotransferase in this infant was normalized after zinc therapy. To our best knowledge, this is the youngest patient with elevated liver enzymes ever reported worldwide. We hope that this will raise awareness among pediatricians, leading to earlier diagnosis, timely treatment, and better clinical outcome.

| S-EPMC4528042 | biostudies-literature

Multifocal myoclonus as a heralding manifestation of Wilson disease.

Project description:Wilson disease (WD) is one of the few curable movement disorders that manifests with varied presentations so that WD needs to be considered in any patient with a movement disorder under the age of 50 years. Although WD is one of the causes of myoclonus, it is rarely seen in WD and usually as an associated finding. We report a case of an adolescent female patient of WD who presented with cortical multifocal myoclonus of 6-month duration with later development of generalized dystonia, extrapyramidal syndrome, and cognitive decline. Kayser-Fleischer ring was present on slit lamp examination. Serum copper, urine copper, serum ceruloplasmin, and magnetic resonance imaging brain were consistent with the diagnosis of WD. Copper chelation was started along with other symptomatic treatments and diet modifications. Myoclonus had resolved by 3-month follow-up with the improvement of other symptoms. This case report emphasizes that myoclonus can be the main and presenting feature of WD.

| S-EPMC5314857 | biostudies-literature

Elusive endocarditis: a rare manifestation without valvular involvement.

Project description: Not available

| S-EPMC9017815 | biostudies-literature

Clinical presentation and mutations in Danish patients with Wilson disease.

Project description:This study describes the clinical presentation and diagnosis in all Danish patients (49, 41 unrelated) with Wilson disease (WND). On the basis of the number of diagnosed patients from 1990-2008, the prevalence was estimated to be 1:49?500. Among routinely used diagnostic tests, none were consistently indicative of WND, with the exception of the 24-h urine-Cu test, which is always outside the normal range. Mutations were identified in 100% of the screened ATP7B alleles (70 unrelated), including five novel mutations: p.1021K; p.G1158V; p.L1304F; IVS20-2A>G; Ex5_6del. In all, 70% of mutations were found in exons 8, 14, 17, 18, and 20. The most frequent mutation, p.H1069Q, comprised 18%. We propose a new and simple model that correlates genotype and age of onset. By assuming that the milder of two mutations is 'functionally dominant' and determines the age of onset, we classified 25/27 mutations as either severe (age of onset <20 years) or moderate (age of onset >20 years), and correctly predicted the age of onset in 37/39 patients. This method should be tested in other Wilson populations.

| S-EPMC3179371 | biostudies-literature

Scrotal abscess as a manifestation of posterior duodenal perforation; a very rare presentation.

Project description:Posterior perforation of duodenal ulcers is very rare; the infection may spread from the retroperitoneal space to the scrotum. A 75-year-old male presented with painful right scrotal swelling for 2 days associated with fever. During abdominal examination there was abdominal tenderness and scrotal swelling and tenderness. CT scan of the abdomen showed large amount of air collection in the retroperitoneal space extending to the right scrotum with contrast media passing to the retroperitoneum and right scrotum. Laparotomy done and there was a perforation in the posterior wall of the duodenum, suturing done and right scrotal abscess drained.

| S-EPMC6734181 | biostudies-literature

Myocarditis: A rare manifestation of acute Q fever infection.

Project description:Myocarditis is a rare disease manifestation of acute Q fever caused by infection with Coxiella burnetii, an infectious Gram-negative proteobacteria. C. burnetii has a large animal reservoir and is often transmitted to humans during animal birth. Acute Q fever has a nonspecific disease presentation leading to delayed treatment and potentially worsened clinical outcomes. We describe a case of an otherwise healthy adult man with angina, ST elevations, and positive cardiac troponins-all findings suggestive of acute coronary syndrome. Cardiac catheterization revealed no significant coronary blockages or abnormalities. On echocardiography he was found to have heart failure with reduced ejection fraction. The patient's social history included several risk factors for Q fever. Serologic testing returned positive for anti-C. burnetii antibodies, and a diagnosis of acute Q fever myocarditis was made. The patient was appropriately treated with a course of doxycycline and clinically improved. <Learning objective: Q fever has a nonspecific presentation often leading to a delayed or missed diagnosis, resulting in worsened morbidity and mortality. Patients with angina-like chest pain and risk factors for Q fever should promptly be tested for infection with C. burnetii. Cardiac magnetic resonance imaging is a useful tool to improve diagnostic accuracy, with positive serology confirming the diagnosis. Treatment includes a course of antibiotics-often doxycycline.>.

| S-EPMC6698251 | biostudies-literature

'Caterpillar right ventricle': unusual manifestation of a rare disease.

Project description:A 66-year-old man presented with abdominal distension and pedal oedema for the past 10 years. He had history of right heart failure on several occasions in the past, and one of these admissions prompted referral to a cardiac specialist. On examination, he had markedly elevated jugular venous pressure with prominent 'y-descent', a tricuspid regurgitation murmur, gross ascites and pedal oedema. A full blood count, routine biochemical screen and serum bicarbonate levels were normal. Right ventricular angiogram revealed a 'caterpillar'-like aneurysm of the right ventricle (RV) apex (figure 1 arrow) with a dilated right ventricular outflow tract and significant tricuspid regurgitation with a dilated right atrium (see online supplementary video 1). Figure 1 Acine angiographic frame of the right ventricle in posteroanterior view, showing a 'caterpillar'-like right ventricle aneurysm (arrow). 10.1136/heartasia-2017-010957.supp3Supplementary file 3. Question:On the basis of the clinical and right ventriculography features, what is the most likely diagnosis for this patient?Arrhythmogenic right ventricular cardiomyopathy (ARVC)Right ventricular endomyocardial fibrosis (RV-EMF) with an RV aneurysmCardiac sarcoidosisCongenital diverticulum of the right ventricle.

| S-EPMC5692100 | biostudies-literature

Pleuroparenchymal sarcoidosis - A recognised but rare manifestation of disease.

Project description:Pleural involvement is rare in sarcoidosis. The presence of a large symptomatic effusion in a patient with sarcoidosis should therefore prompt further investigation for an alternate aetiology. Here we present a case of confirmed pleuro-parenchymal sarcoidosis. We discuss the important differential diagnoses and review the current literature.

| S-EPMC5925957 | biostudies-literature

An uncommon presentation of a rare disease: A case of anti-glomerular basement membrane disease without renal involvement.

Project description:Anti-glomerular basement membrane disease (anti-GBM) is a well-documented, small vessel vasculitis that is classically associated with glomerulonephritis and alveolitis [1]. However, regardless of clinical process, not every patient will present with a constellation of classically associated symptoms. Literature review demonstrates that early anti-GBM disease can present as glomerulonephritis without alveolitis [2,3]. In this case report, we describe the unique clinical course of a 26-year-old male who originally presented with hemoptysis and his subsequent clinical workup revealing anti-glomerular basement membrane disease without renal involvement.

| S-EPMC7695918 | biostudies-literature

Wilson disease: Canadian perspectives on presentation and outcomes from an adult ambulatory setting.

Project description:BackgroundWilson disease (WD) is a rare disorder of copper metabolism.ObjectiveTo describe the authors' clinical experience with a cohort of 48 adult patients followed in an ambulatory setting.MethodsA retrospective chart review of patients with a diagnosis of WD was performed.ResultsFifty-nine charts were identified and 11 were excluded on further review. At diagnosis, 14 patients were asymptomatic, with 13 hepatic, 15 neurological and six mixed hepatic?neurological presentations. Ceruloplasmin levels were low (<0.20 g?L) in 94%, and 24 h urinary copper levels high (>0.60 µmol?L) in 95% of cases. D-penicillamine was the most common initial therapy (48%), with zinc the most common at review (65%). Overall, biopsy and ultrasound reports documented cirrhosis in 53%. Portal hypertension, defined as splenomegaly (>12.0 cm), reversed portal venous flow on ultrasound or varices?gastropathy on endoscopy was seen in 63%. At last review, 39% had elevated aspartate aminotransferase (>34 U?L) and?or alanine aminotransferase levels (>40 U?L). One death and one transplant occurred, while three patients had encephalopathy, two became jaundiced, two developed ascites and one experienced variceal bleed. Of 21 neurological presenting patients, 14 improved compared with baseline, with four making almost complete recovery. Eleven patients experienced documented episodes of neurological decline, including four with non-neurological presentation. Diagnostic magnetic resonance imaging showed basal ganglia (64%), brainstem (64%) abnormalities and atrophy (36%); follow-up showed basal ganglia lesions (50%) and atrophy (55%).ConclusionWD is a diverse chronic disease with generally favourable outcomes for patients who respond to initial therapy, which can be managed predominantly in an ambulatory setting.

| S-EPMC3378279 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data