scholarly journals Neurologic Wilson Disease Presenting with Acute Delirium And Automatic Writing Behaviour: A Case Report

2019 ◽  
pp. 1-4
Author(s):  
Deniz Ertem ◽  
Dilşat Türkdoğan ◽  
Engin Tutar ◽  
Esra Polat ◽  
Gazanfer Ekinci ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Autosomal Recessive Disorder ◽  
Elevated Transaminase ◽  
Wide Range ◽  
Frontal Lobe Dementia ◽  
Automatic Writing ◽  
Writing Activity

Introduction: Wilson’s disease (WD) is a rare autosomal recessive disorder which leads to abnormal copper deposition in multiple tissues. Due to extensive deposition of copper in the liver and brain, WD primarily manifests with a wide range of symptoms as well as psychiatric symptoms. Method: We report a 15-year-old boy presenting with automatic writing behavior and acute neuropsychiatric symptoms; splenomegaly and elevated transaminase levels. Result: A diagnosis of WD was later made, following liver biopsy. Previously, increased writing activity has been reported in cerebrovascular disease, frontal lobe dementia, temporal lobe epilepsy, Parkinson disease and multiple sclerosis but not in WD. Conclusion: This is the first report of increased writing behavior in WD.

scholarly journals Neurodegeneration with brain iron accumulation: A case report

2016 ◽  
Vol 10 (2) ◽  
pp. 160-164 ◽  
Author(s):  
Daniel Nassif ◽  
João Santos Pereira ◽  
Mariana Spitz ◽  
Cláudia Capitão ◽  
Alessandra Faria
Keyword(s):  
Case Report ◽  
Genetic Testing ◽  
Autosomal Recessive ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Autosomal Recessive Disorder ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Diagnostic Importance ◽  
Abnormal Brain

ABSTRACT Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus. PKAN is included in a group of disorders known as neurodegeneration with brain iron accumulation (NBIA). We report a case of atypical PKAN with its most characteristic presentation, exhibiting marked psychiatric symptoms, speech disorder and focal dystonia. Brain MRI has great diagnostic importance in this group of disorders and, in this case, disclosed the eye-of-the-tiger sign. Genetic testing confirmed the diagnosis.

scholarly journals Wilson disease and psychiatric symptoms: A brief case report

2019 ◽  
Vol 32 (3) ◽  
pp. e100066
Author(s):  
Margarita Guerrero-Jiménez ◽  
Carmen Maura Carrillo de Albornoz Calahorro ◽  
Luis Gutierrez Rojas
Keyword(s):  
Wilson Disease ◽  
Psychiatric Symptoms ◽  
Genetic Disorder ◽  
Neuropsychiatric Symptoms ◽  
Copper Metabolism ◽  
Short Review ◽  
Neurological Damage ◽  
Delay In Diagnosis ◽  
Causal Treatment ◽  
Delay Of Diagnosis

Wilson disease (WD) is an uncommon recessive genetic disorder affecting copper metabolism. Cardiac, neurological, hepatic and renal manifestations are well defined, nevertheless approximately 30% of patients debut with neuropsychiatric symptoms. These psychiatric alterations resulting from the accumulation of this heavy metal in the basal ganglia are some how less specific. We present a short review of psychiatric symptoms of WD and describe a case of a 37-year-old woman diagnosed with WD who presented neuropsychiatric symptoms and had a consequent delay in diagnosis and causal treatment. Patients who develop WD starting with a predominance of neuropsychiatric symptoms tend to manifest hepatic symptoms later, therefore have a longer delay of diagnosis and a poorer outcome than patients with hepatic symptoms. An early diagnosis of WD can avoid irreversible neurological damage.

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

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

scholarly journals Severe generalized dystonia in paediatric onset wilsons disease

2019 ◽  
Vol 6 (6) ◽  
pp. 2720
Author(s):  
Jyothi A. ◽  
Subramanya N. K.
Keyword(s):  
Case Report ◽  
Wilson Disease ◽  
Transport Mechanism ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Neurological Involvement ◽  
Age Group ◽  
Systemic Involvement ◽  
First Case ◽  
Generalized Dystonia

Wilson disease (WD) is a rare autosomal recessive disorder with defect in copper transport mechanism with varied clinical manifestation predominantly hepatic, neurological, ophthalmological and multi-systemic involvement. WD in paediatrics  age group manifest differently from the adults.  In this case report, Authors have  described the first case report presenting with neurological involvement in the form of severe generalized dystonia in a paediatric onset WD. This case report is of greater significance in detecting the most often undetected paediatric WD presenting with a usual hepatic manifestation occurring early in the course.

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

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.

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

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.

scholarly journals Neurological Manifestation of Wilson Disease at an Early Age: A Case Report

2010 ◽  
Vol 23 (1) ◽  
pp. 87-90
Author(s):  
MI Bari ◽  
LS Sharmin ◽  
T Alam
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Wilson Disease ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Neurological Manifestation ◽  
Early Age ◽  
P Type

Wilson’s disease (hepatolenticuler degeneration), an inborn error of copper metabolism, is an autosomal recessive disorder characterized by degenerative changes in brain, liver disease and Kayser Fleisher (KF) rings in the cornea. It is due to a defect of p-type ATPase which is probably required for normal excretion of copper through bile. Hepatic manifestation of the disease is common at early age and neurological manifestation is common at an older age. We are reporting Wilson disease with neurological manifestation in a 10 year old boy. TAJ 2010; 23(1): 87-90

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

A Case of Congenital Glucose Galactose Malabsorption with a New Mutation in the SLC5A1 Gene

2020 ◽  
Author(s):  
Hasan Akduman ◽  
Dilek Dilli ◽  
Serdar Ceylaner
Keyword(s):  
Mutation Analysis ◽  
Autosomal Recessive ◽  
Glucose Transporter ◽  
Neonatal Period ◽  
Autosomal Recessive Disorder ◽  
Homozygous Mutation ◽  
New Mutation ◽  
Early Neonatal Period ◽  
Sodium Dependent ◽  
Hypernatremic Dehydration

AbstractCongenital glucose-galactose malabsorption (CGGM) is an autosomal recessive disorder originating from an abnormal transporter mechanism in the intestines. It was sourced from a mutation in the SLC5A1 gene, which encodes a sodium-dependent glucose transporter. Here we report a 2-day-old girl with CGGM who presented with severe hypernatremic dehydration due to diarrhea beginning in the first hours of life. Mutation analysis revealed a novel homozygous mutation NM_000343.3 c.127G > A (p.Gly43Arg) in the SLC5A1 gene. Since CGGM can cause fatal diarrhea in the early neonatal period, timely diagnosis of the disease seems to be essential.

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