A case of Wilson disease with the ATP7B mutation presenting movement disorders

Background: Wilson disease is an autosomal recessive condition manifested when abnormal copper accumulation in the body particularly involving many organs such as brain, liver, and cornea. Diagnosis is challenging with the completion of tests in blood and urine, a liver biopsy, and clinical evaluation. ATP7B mutations with more than 600 identified variants are the genetic disorders of Wilson disease. Case Description: We report an adolescent case with no family history presented with extrapyramidal dyskinesia. Other symptoms include liver cirrhosis and Kayser–Fleischer ring. The typical presentation of blood test results and brain MRI images helps us to suspect Wilson disease in this case. We confirmed to have a p.R778L form and a p.S105X form in ATP7B mutations. After combining therapy with trihexyphenidyl and trientine, the patient’s medical condition was stable and no side effects were observed. Conclusion: Screening for the diagnosis of Wilson disease is essential in helping patients benefit from early treatment and genetic counseling.

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Siblings with Bardet Beidl Syndrome

Journal of Nepal Paediatric Society ◽

10.3126/jnps.v33i3.8081 ◽

2013 ◽

Vol 33 (3) ◽

pp. 236-238

Author(s):

Ram Peter ◽

Priya Jose ◽

MNG Nair

Keyword(s):

Clinical Features ◽

Autosomal Recessive ◽

Clinical Presentation ◽

The Body ◽

Bardet Biedl Syndrome ◽

Recessive Condition ◽

Autosomal Recessive Condition

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081 J. Nepal Paediatr. Soc. 2013;33(3):236-238

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Wilson Disease

Pediatrics in Review ◽

10.1542/pir.17.12.448 ◽

1996 ◽

Vol 17 (12) ◽

pp. 448-448

Author(s):

Philip O. Ozuah

Keyword(s):

Biliary Excretion ◽

Wilson Disease ◽

Autosomal Recessive ◽

Copper Metabolism ◽

The Body ◽

Hepatolenticular Degeneration ◽

Dietary Copper ◽

Hepatic Copper ◽

Excess Copper ◽

Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

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Papillon-Lefevre Syndrome: A Novel Familial Presentation

World Journal of Dentistry ◽

10.5005/jp-journals-10015-1041 ◽

2010 ◽

Vol 1 (3) ◽

pp. 209-212

Author(s):

S Sudhakar ◽

Prabhat MPV ◽

B Praveen Kumar

Keyword(s):

Immune Cells ◽

Early Onset ◽

Polymorphonuclear Leukocytes ◽

Autosomal Recessive ◽

Functional Disability ◽

The Body ◽

Cathepsin C ◽

Recessive Condition ◽

Autosomal Recessive Condition ◽

Rare Instance

ABSTRACT Papillon-Lefevre syndrome (PLS) is a condition characterized by dermatological manifestations and early onset periodontitis. The pathogenesis of PLS is secondary to mutation of the cathepsin C gene. Hence, the manifestations are expressed on the areas of the body covered by epithelium, such as palms, soles, knees and keratinized oral gingiva. Various immune cells, including polymorphonuclear leukocytes, macrophages, and their precursors are also affected leading to functional disability. PLS is an autosomal recessive condition and can occur in siblings born of consanguineous marriages. This report highlights a rare instance of two siblings of a family affected with Papillon-Lefevre syndrome.

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Acute-Onset Optic Neuropathy in Wilson’s Disease

Case Reports in Ophthalmology ◽

10.1159/000495744 ◽

2019 ◽

Vol 9 (3) ◽

pp. 520-525

Author(s):

Liyung Tiffany Chou ◽

Derek Horkey ◽

Mark Slabaugh

Keyword(s):

Autosomal Recessive ◽

Wilson’S Disease ◽

Vision Loss ◽

Wilson's Disease ◽

Acute Onset ◽

Copper Accumulation ◽

Hepatolenticular Degeneration ◽

Ocular Manifestations ◽

Excess Copper ◽

Autosomal Recessive Condition

Wilson’s disease (WD), also known as hepatolenticular degeneration, is a rare autosomal recessive condition of excess copper accumulation that is most commonly associated with hepatic, neurologic, psychiatric, and ocular manifestations. While Kayser-Fleischer rings and sunflower cataracts are well known in WD, visual impairment is very rare. We report the case of a 20-year-old female who presented with acute liver failure and associated monocular vision loss. WD was found to be a cause of her liver disease and decreased vision.

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Generalized Hyperpigmentation of Skin as an Atypical Presenting Feature in Wilson Disease

Bangladesh Journal of Child Health ◽

10.3329/bjch.v42i1.37051 ◽

2018 ◽

Vol 42 (1) ◽

pp. 43-45

Author(s):

Abdullahel Amaan ◽

Md Rukunuzzaman ◽

Khainoor Zahan ◽

Khan Lamia Nahid ◽

ASM Bazlul Karim

Keyword(s):

Liver Disease ◽

Wilson Disease ◽

Autosomal Recessive ◽

Copper Metabolism ◽

Autosomal Recessive Disorder ◽

Whole Body ◽

Copper Accumulation ◽

Diagnostic Dilemma ◽

Common Causes ◽

The Common

Background: Wilson disease is an autosomal recessive disorder of copper metabolism, where excessive copper accumulation occurs in various tissues. Although hepatic and neurological symptoms predominates, it may present with some other unusual features which sometimes confuses clinicians and makes a diagnostic dilemma. We present here an 11 years old boy presented with gradual darkening of whole body over last 2 months and jaundice for 5 month. His clinical features and laboratory parameters were suggestive of Wilson disease. Being one of the common causes of chronic liver disease (CLD) in childhood, Wilson disease may present with some atypical features like darkening of complexion.Bangladesh J Child Health 2018; VOL 42 (1) :43-45

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Catatonic Disorder due to Wilson’s disease - A rare presentation

Bengal Journal of Psychiatry ◽

10.51332/bjp.2015.v20.i2.38 ◽

2015 ◽

pp. 17-20

Author(s):

Tanushree Bhattacharya ◽

Asish Debnath ◽

Sharmila Sarkar

Keyword(s):

Wilson Disease ◽

Autosomal Recessive ◽

Wilson’S Disease ◽

Autosomal Recessive Disorder ◽

Wilson's Disease ◽

The Body ◽

Rare Presentation ◽

Neurological Features ◽

Copper Chelators ◽

Psychiatric Manifestations

Wilson disease (WD) is a relatively rare autosomal recessive disorder caused by the mutation of ATP7B gene, resulting in impaired transportation of copper in the body which is then deposited in various organs such as liver, brain and kidney. Catatonia at first presentation in WD has rarely been reported. Here we report a case of a 14 year old boy who presented with catatonia among other neuropsychiatric features and who was later diagnosed with Wilson's disease. He responded well to treatment with Copper chelators, olanzapine and lorazepam. Though uncommon, a diagnosis of Wilson's disease should be considered in the evaluation of adolescents and young adults presenting with psychiatric manifestations &/or neurological features.

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THE PSEUDOSCLEROTIC FORM (“WING-BEATING TREMOR”) OF WILSON’S DISEASE

Romanian Journal of Neurology ◽

10.37897/rjn.2015.4.10 ◽

2015 ◽

Vol 14 (4) ◽

pp. 242-244

Author(s):

Alina Poalelungi ◽

◽

Viorel Poalelungi ◽

Daniela Mladin ◽

Bogdan O. Popescu ◽

...

Keyword(s):

Wilson Disease ◽

Autosomal Recessive ◽

Wilson’S Disease ◽

Brain Mri ◽

Copper Metabolism ◽

Autosomal Recessive Disorder ◽

Wilson's Disease ◽

Slit Lamp ◽

The Right ◽

Progressive Accumulation

Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “wing-beating tremor” in the right arm that started with two month in advance of hospital admission, than evolved to the left arm, a week before hospitalization. The slit-lamp examination showed the presence of Kayser-Fleischer rings in both eyes. The laboratory tests and brain MRI confirmed the diagnostic of Wilson’s disease.

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Epidemiology, Evaluation and Management of Wilson Disease: Review Article

Journal of Pharmaceutical Research International ◽

10.9734/jpri/2021/v33i57a33973 ◽

2021 ◽

pp. 94-103

Author(s):

Mohammed Salah Hussein ◽

Turki Mohammed A. Alshehri ◽

Nada Muidh Aloufi ◽

Alghamdi, Ibrahim Saeed A. ◽

Al zahrani, Adel Abdulrahman S. ◽

...

Keyword(s):

Wilson Disease ◽

Autosomal Recessive ◽

The Body ◽

Hepatolenticular Degeneration ◽

Excess Copper ◽

Liver Decompensation ◽

Optimum Technique ◽

The Family ◽

Key Factor ◽

The Brain

Wilson disease (hepatolenticular degeneration) is a rare autosomal recessive ailment characterized by aberrant copper buildup in the body, with the brain, liver, and cornea being notably affected. Wilson illness is caused by a mutation in the ATP7B gene on chromosome 13, which regulates the protein transporter that excretes excess copper into the bile and out of the body. So far, over 500 mutations have been discovered. The most common treatment for WD is D-penicillamine (D-PCA). Patients with severe spasms, deformities, or dysphonia, as well as those who are allergic to D-PCA, should avoid it. Early Diagnosis is a key factor in saving patient’s live, and thus prober investigation should be done as soon as possible. Family screening is a must when a patient is diagnosed to role out any other patients in the family with the disease and because of the strong genetic factor impacting the disease. early detection is critical for initiating therapy in the early, asymptomatic stages of the disease, rather than when liver decompensation or extensive neurological irreversible harm has already occurred. In this circumstance, the optimum technique is to finish copper investigations in the index patient's first- and second-degree relatives. In the present article we’ll be discussing disease prevalence, etiology and more importantly diagnosis and management.

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PENGEMBANGAN BAHAN AJAR IPA SMP PADA TEMA ENERGI DALAM TUBUH MENGGUNAKAN METODE 4STMD

EDUSAINS ◽

10.15408/es.v8i2.2039 ◽

2019 ◽

Vol 8 (2) ◽

pp. 166-175

Author(s):

Gia Juniar Nur Wahidah ◽

Sjaeful Anwar

Keyword(s):

Concept Maps ◽

The Body ◽

Instructional Materials ◽

Teaching Material ◽

Test Results ◽

Teaching Materials ◽

Eligibility Criteria ◽

Material Development ◽

Selection Step ◽

Selection Of

Abstract This research aims to produce science teaching materials in junior level with Energy in The Body as the theme using Four Steps Teaching Material Development (4STMD). The material is presented in an integrated way so that students can think holistically and contextually. The method used in this study is Research and Development. In this R&D methods is used 4STMD. There are four steps done on the development of teaching materials, the selection step, structuring step, characterization, and didactic reduction. Selection step includes the selection of indicators in accordance with the demands of the curriculum which is then developed with the selection of concepts and values that are integrated with the concept of science. Structuring step includes make macro structures, concept maps, and multiple representations. Characterization's step includes preparation instruments, then trial to students to identify difficult concepts. The last, didactic reduction was done by neglect and the annotations in the form of sketches.The test results readability aspect instructional materials lead to the conclusion that by determining the main idea, the legibility of teaching materials reached 67%, with moderate readability criteria. Test results of feasibility aspects based on the results of questionnaires to the 11 teachers lead to the conclusion that the overall, level of eligibility teaching materials reached 91% with the eligibility criteria well. Keywords: teaching materials; energy; 4STMD Abstrak Penelitian ini bertujuan untuk menghasilkan bahan ajar IPA SMP pada tema Energi dalam Tubuh menggunakan metode Four Steps Teaching Material Development (4STMD). Materi disajikan secara terpadu sehingga memacu siswa untuk berpikir secara holistik dan kontekstual. Metode penelitian yang digunakan pada penelitian ini adalah metode penelitian dan pengembangan. Dalam penelitian dan pengembangan yang ini, digunakan metode Four Steps Teaching Material Development (4STMD). Terdapat empat tahap yang dilakukan pada pengembangan bahan ajar, yakni tahap seleksi, strukturisasi, karakterisasi, dan reduksi didaktik. Tahap seleksi meliputi pemilihan indikator yang sesuai dengan tuntutan kurikulum yang kemudian dikembangkan dengan pemilihan konsep dan nilai yang diintegrasikan dengan konsep IPA. Tahap strukturisasi meliputi pembuatan struktur makro, peta konsep, dan multipel representasi dari materi. Tahap karakterisasi meliputi penyusunan instrumen karakterisasi, kemudian uji coba kepada siswa untuk mengidentifikasi konsep sulit. Tahap terakhir, yaitu reduksi didaktik konsep terhadap konsep sulit. Reduksi didaktik yang dilakukan berupa pengabaian dan penggunaan penjelasan berupa sketsa. Hasil uji aspek keterbacaan bahan ajar menghasilkan kesimpulan bahwa berdasarkan penentuan ide pokok, keterbacaan bahan ajar mencapai 67%, dengan kriteria keterbacaan tinggi. Hasil uji aspek kelayakan berdasarkan hasil angket terhadap 11 orang guru menghasilkan kesimpulan bahwa secara keseluruhan tingkat kelayakan bahan ajar mencapai 91% dengan kriteria kelayakan baik sekali. Kata Kunci: bahan ajar; energi; 4STMD Permalink/DOI: http://dx.doi.org/10.15408/es.v8i2.2039

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