Clinical Feature, Cause and Outcome in Female Paediatric Child with Osseomuscular Type of Wilson’s Disease

Introduction: Genetically inherited diseases have grown in the last few decades. Wilson’s disease is one of those, named after the U.S.-born British neurologist Dr. Samuel Alexander Kinnier Wilson. Case Presentation: A 12 years old female child was admitted in A.V.B.R. hospital with the chief complaints of altered behaviour, speech disturbances, no physical coordination, uncontrolled movement since 2 to 3 months and fever since 2-3 days. Golden brown eye discoloration was present. After physical examination and investigation doctor diagnosed it as a case of Wilson’s disease. The Main Diagnosis, Therapeutic Intervention and Outcomes: After physical examination and investigation doctor diagnosed this as a case of Wilson’s disease. Zinc and vitamin supplements were given for 7 days to enhance immunity. Beta-blocker was given For 7days twice a day, Tab. Trietinine 250 mg was given once a day for 7 days to remove the heavy metal i.e. copper. She took all treatment and outcome was good. Her signs and symptoms got reduced and she was able to do her routine activities. Conclusion: The diagnosis of Wilson's disease relies largely on clinical examination and laboratory confirmation of abnormal metabolism of copper. This case responded well to all treatment and her recovery was good.

Download Full-text

A Rare Case Report on Therapeutic Management of Wilm’s Tumour

Journal of Pharmaceutical Research International ◽

10.9734/jpri/2021/v33i32b31750 ◽

2021 ◽

pp. 115-118

Author(s):

Priya Rewatkar ◽

Manoj Patil

Keyword(s):

Physical Examination ◽

Wilms Tumor ◽

Signs And Symptoms ◽

Female Child ◽

The United States ◽

The Body ◽

Therapeutic Interventions ◽

Timely Initiation ◽

Wilm's Tumor ◽

Wilm’S Tumor

Introduction: Wilms's tumour was named after Carl Max Wilhelm Wilms, a 19th century German surgeon. Wilm’s tumor is derived from primitive metanephric blastema and is a form of childhood carcinoma that begins in the kidneys (also called nephroblastoma). In infants, it is the most common form of kidney carcinoma. 9 out of 10 kidney cancers in kids is Wilms Tumor. Carcinoma can spread to other parts of the body. The incidence is around seven new cases per million children in the United States, with a peak incidence between the ages of 2 and 3 years. Main symptoms and important clinical findings: A 11 yrs. old female child was admitted in Acharya Vinoba Bhave Rural Hospital, Wardha on 08/02/2021 with chief complaint of breathing difficulty, shortness of breath, blood in the urine, nausea and vomiting. After physical examination and investigations, doctors diagnosed it as a case of Wilm’s tumor. The main diagnoses, therapeutic interventions and outcomes: After physical examination and investigations like MRI, doctor diagnosed it as a case Wilm’s tumour. Tab. Actinomycin D (Dactinomycin), tab. Vincristine (chemotherapy) were started and calcium and multivitamin supplements were given for 7 days to enhance immune function. Tab. Septran 160 mg OD and tab. Acenet 400 mg OD, tab. Bactrim 5mg OD was also prescribed. Patient took all treatment and outcome was good. Her signs and symptoms improved. Conclusion: Accurate diagnosis and timely initiation of treatment speeded up recovery.

Download Full-text

Wilson’s Disease: An Update on the Diagnostic Workup and Management

Journal of Clinical Medicine ◽

10.3390/jcm10215097 ◽

2021 ◽

Vol 10 (21) ◽

pp. 5097

Author(s):

Beata Kasztelan-Szczerbinska ◽

Halina Cichoz-Lach

Keyword(s):

Wilson’S Disease ◽

Autosomal Recessive Disorder ◽

Signs And Symptoms ◽

Wilson's Disease ◽

Clinical Findings ◽

Diagnostic Tools ◽

Inherited Disease ◽

Strict Adherence ◽

Novel Biomarkers ◽

Patient Prognosis

Wilson’s disease (WD) is a rare autosomal recessive disorder of hepatocellular copper deposition. The diagnostic approach to patients with WD may be challenging and is based on a complex set of clinical findings that derive from patient history, physical examination, as well as laboratory and imaging testing. No single examination can unequivocally confirm or exclude the disease. Timely identification of signs and symptoms using novel biomarkers and modern diagnostic tools may help to reduce treatment delays and improve patient prognosis. The proper way of approaching WD management includes, firstly, early diagnosis and prompt treatment introduction; secondly, careful and lifelong monitoring of patient compliance and strict adherence to the treatment; and, last but not least, screening for adverse effects and evaluation of treatment efficacy. Liver transplantation is performed in about 5% of WD patients who present with acute liver failure at first disease presentation or with signs of decompensation in the course of liver cirrhosis. Increasing awareness of this rare inherited disease among health professionals, emphasizing their training to consider early signs and symptoms of the illness, and strict monitoring are vital strategies for the patient safety and efficacy of WD therapy.

Download Full-text

Toxic milk mice models of Wilson’s disease

Molecular Biology Reports ◽

10.1007/s11033-021-06192-5 ◽

2021 ◽

Author(s):

Krzysztof Hadrian ◽

Adam Przybyłkowski

Keyword(s):

Chronic Hepatitis ◽

Wilson’S Disease ◽

Genetic Disorder ◽

Signs And Symptoms ◽

Wilson's Disease ◽

Cellular Damage ◽

Copper Accumulation ◽

Recessive Trait ◽

Stage Disease ◽

End Stage

AbstractWilson’s disease (WD) is a rare genetic disorder inherited as an autosomal recessive trait. The signs and symptoms of this disease are related to dysfunctional ATP7B protein which leads to copper accumulation and cellular damage. The organs that are most commonly affected by WD are the liver and brain. The dysfunctional ATP7B homolog has previously been identified in many different species, including two naturally occurring murine models called toxic milk mice. The aim of this paper was to compare the toxic milk mouse described by Rauch (tx) to that from Jackson Laboratory (txJ) through a review of studies on these two groups of mice. The two mice strains differ in the type of carried mutation and the phenotype of the disease. The data of the studies showed that the tx mice developed mild chronic hepatitis but suffered severe organ destruction with faster progression to full-liver cirrhosis. No changes were noted in the neurological and behavioral status of this strain despite the described toxic accumulation of copper and neuronal destruction in their brain. On the other hand, though the Jackson toxic milk mice (txJ) also presented chronic hepatitis, the condition was a bit milder with slower progression to end-stage disease. Moreover, hepatocyte suitable to perform neurobehavioral research as their phenotype characterized by tremors and locomotor disabilities better corresponds with the cliniconeurological picture of the humans.

Download Full-text

Atypical case of Wilson's disease with psychotic onset, low 24 hour urine copper and the absence of Kayser-Fleischer rings

Vojnosanitetski pregled ◽

10.2298/vsp130529049k ◽

2014 ◽

Vol 71 (12) ◽

pp. 1155-1158 ◽

Cited By ~ 1

Author(s):

Dragan Krstic ◽

Jadranka Antonijevic ◽

Zeljko Spiric

Keyword(s):

Genetic Analysis ◽

Wilson’S Disease ◽

Clinical Symptoms ◽

Psychiatric Symptoms ◽

Molecular Genetic ◽

Signs And Symptoms ◽

Wilson's Disease ◽

Molecular Genetic Analysis ◽

Laboratory Findings ◽

Atypical Case

Introduction. Wilson's disease is typically manifested in two clinical forms, neurological and hepatic and in rare cases it starts with psychiatric symptoms exclusively. We presented a rare atypical case of Wilson's disease with psychotic onset. Case report. A 22-year-old male patient was initially presented with predominant signs and symptoms of psychiatric disorder and then later with the development of neurological signs and symptoms. Neuroimaging, detected metal deposits in central nervous system (CNS) but not in peripheral organs, while serum analysis excluded pantothenate-kinase associated neurodegeneration (PKAN) and aceruloplasminemia. In favor of the diagnosis of Wilson's disease there were reduced concentrations of copper and ceruloplasmin concentrations and metal deposits in CNS, but other pathognomonic signs and symptoms were absent: in-creased copper in urine, Kayser-Fleischer rings in Descemet?s corneal membrane and deposits of copper in liver. Introduction of penicillamine treatment resulted in improvement in mental and general health of the patient. Molecular genetic analysis definitely confirmed the diagnosis of Wilson's disease. Conclusion. Wilson's disease can remain undetected for a long period of time if masked with dominant or exclusive psychiatric symptoms. If clear clinical symptoms and signs, and unambiguous laboratory findings are not present, it is necessary to perform molecular genetic analysis to confirm the definitive diagnosis.

Download Full-text

A CASE REPORT ON WILSON’S DISEASE: A RARE CLINICAL CONDITION OF COPPER DEPOSITION IN LIVER

International Journal of Pharmacy and Pharmaceutical Sciences ◽

10.22159/ijpps.2021v13i8.41707 ◽

2021 ◽

pp. 103-106

Author(s):

G. KISHORE SWATHI ◽

B. MANISHA ◽

R. SHARADHA ◽

SUSHANTA KUMAR DAS

Keyword(s):

Wilson’S Disease ◽

Clinical Symptoms ◽

Tertiary Care ◽

Wilson's Disease ◽

Care Hospital ◽

High Grade Fever ◽

Gradual Improvement ◽

Bile Acid Sequestrants ◽

Hepatic Involvement ◽

Chief Complaints

Wilson’s disease is a rare inherited disorder and is characterized by the accumulation of copper in various tissues and also in organs like the liver, brain, kidneys and cornea. Symptoms in paediatrics characteristically appear with hepatic involvement. In this case we have discussed about an eleven-year-old male child, who was presented to the Paediatric department in a tertiary care hospital with chief complaints of yellowish discoloration of eyes, dark coloured urine and high grade fever. Due to the accumulation of copper there were decreased levels of ceruloplasmin and there was an increased 24 hour urinary copper, which confirms the Wilson’s disease in this child. Child was treated with Cephalosporin antibiotics, vitamins, laxative, and bile acid sequestrants. Child showed gradual improvement in clinical symptoms and got discharged without any further event. Quality of evidence was assessed according to the GRADE system. Early diagnosis and management helped to prevent serious complications.

Download Full-text

Wilson`s disease in pregnancy: presentation of a case report.

Hellenic Journal of Obstetrics and Gynecology ◽

10.33574/hjog.2068 ◽

2020 ◽

Vol 19 (3) ◽

pp. 149-152

Author(s):

Ioannis Thanopoulos ◽

Kalliopi Pappa

Keyword(s):

Case Report ◽

Wilson’S Disease ◽

Copper Metabolism ◽

Autosomal Recessive Disorder ◽

Signs And Symptoms ◽

Wilson's Disease ◽

Management Options ◽

Present Case Report ◽

Progressive Liver Disease ◽

Almost All

Wilson’s disease is a rare inherited autosomal recessive disorder of copper metabolism causing toxic hepatic and neural accumulation. The gene that regulates the disease is located on chromosome 13 (13q14.3). The signs and symptoms of Wilson’s disease vary depending on the organs that are affected by the disease with almost all the patients showing evidence of progressive liver disease. Its severity varies and is strongly associated with the time of diagnosis. In the present case report we present a rare case presenting with Wilson`s disease during pregnancy and review current management options.

Download Full-text