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.

scholarly journals Hemichorea-hemiballismus in a patient with hyperglycaemic hyperosmolar state

2020 ◽  
Vol 8 (10) ◽  
pp. 3710
Author(s):  
Rifkatu S. Reng ◽  
Odumodu Kenechukwu ◽  
Shuaibu Ramatu ◽  
Oyakhire Shyngle ◽  
Omonua Special ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Involuntary Movement ◽  
Rare Complication ◽  
Cerebral Atrophy ◽  
Lower Limbs ◽  
High Grade Fever ◽  
Rare Manifestation ◽  
History Of ◽  
Hypertensive Woman ◽  
The Right

Hemichorea-hemiballismus (HCHB) is a rare manifestation of hyperglycaemic hyperosmolar state caused by contralateral lesion in basal ganglia. A 74-year-old, known diabetic and hypertensive woman presented with one-week history of high-grade fever and loss of consciousness associated with involuntary movement of the right upper and lower limbs for 10 hours prior to presentation. Physical examination revealed pyrexia, tachycardia and altered sensorium. Blood glucose was 53.8 mmol/l, hemoglobin A1c (Hb A1c) 9.9% and brain computed tomography (CT) scan showed cerebral atrophy with bilateral basal ganglia hyperdensities. Escherichia coli was cultured from the urine. She did well on treatment with soluble insulin, rehydration and intravenous ceftriaxone. HCHB is a rare complication seen in patients with poorly controlled diabetes mellitus. This report highlights the reversibility of the disease with prompt diagnosis and appropriate insulin treatment. HCHB should be distinguished from other intracranial pathologies.

scholarly journals Wilson’s disease: neuroimaging features

2021 ◽  
Author(s):  
Francisco Costa Beber Lemanski ◽  
Vitor Dalepiane Rossato ◽  
Nathalia Beck Corrêa ◽  
Letícia Reginato ◽  
Gabriel Tarasconi Zanin
Keyword(s):  
Basal Ganglia ◽  
Wilson’S Disease ◽  
Genetic Disorder ◽  
Wilson's Disease ◽  
The Body ◽  
Copper Accumulation ◽  
Axial Section ◽  
The Central Nervous System ◽  
Narrative Literature Review ◽  
Magnetic Resonance Imaging Mri

Background: Wilson’s disease (DW) is a genetic disorder characterized by the accumulation of copper in the body. The copper accumulation is systemic and occurs in several tissues, with the central nervous system (CNS) being one of the most affected sites. The use of imaging tests is not necessary for the diagnosis. However, in the suspicion of neurological damage, Magnetic Resonance Imaging (MRI) plays an important role in the assessment of the metal deposit in the CNS and in the clinico-anatomical correlation in symptomatic patients. Objectives: to identify the characteristic findings of DW in neuroimaging exams. Methods: a narrative literature review. Results: in MRI, the most affected sites in the CNS are the basal ganglia (mainly the outermost portion of the putamen), followed by the midbrain, the pons, and the thalamus. Alterations are bilaterally and symmetrically. T2 sequence reveals hyperintensity in putamen, the most common abnormality, as well as in the rest of the basal ganglia. Eventually, it is possible to identify the “panda sign” in the axial section of the midbrain, due to the involvement of the tegmental region associated with the normal signal of the red nuclei and hypointensity of the superior colliculus, characteristic of DW. In the T1 sequence, patients with neurological symptoms present hypointense images. Conclusions: MRI has a diagnostic and prognostic role in DW. The putamen is the most affected structure, but abnormalities in the pons, midbrain, and thalamus are part of the neuroimaging spectrum of Wilson’s disease. The “panda sign” is the classic MRI finding.

scholarly journals CASE REPORT: HEMICHOREA-HEMIBALLISMUS IN NON-KETOTIC HYPERGLYCEMIA AND NON-HEMORRHAGIC STROKE PATIENT WITH BASAL GANGLIA HYPERDENSITY

2019 ◽  
Vol 2 (2) ◽  
pp. 74-80
Author(s):  
Regina Caecilia Setiawan ◽  
William Septian Sonyo ◽  
Luh Kadek Trisna Lestari
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Basal Ganglia ◽  
Involuntary Movement ◽  
Clinical Manifestations ◽  
The Body ◽  
Initial Symptom ◽  
Uncontrolled Diabetes ◽  
The Right ◽  
Ketotic Hyperglycemia

Background : Hemichorea-hemiballismus (HC-HB) is a hyperkinetic disorder characterized by uncontrolled movements, non patterned, occurring mostly in the proximal extremity on one side of the body. The etiology that most often causes HC-HB is acute cerebrovascular disorder. Non-ketotic hyperglycemia is another etiology that is very important because it is the second most common cause of HC-HB and can be manifested as an initial symptom or complication of diabetes mellitus. This case is rare and the prevalence is unknown. Case : A diabetic patient with non-ketotic hyperglycemia reported  with hemiballismus syndrome. A 60-year-old woman experiences involuntary, repetitive, and non-rhythmic movements in the left arm and leg. These patients have a history of uncontrolled diabetes mellitus and hypertension. Head CT scan images in patients showed hyperdensity lesions in the right basal ganglia which were thought to be caused by non-ketotic hyperglycemia and infarction in the right temporal lobe. Involuntary movements improve after blood glucose targets are achieved by administering basal and prandial insulin.  Clinical response in the case of hemiballismus above is reversible even though the appearance of hyperdensityt lesions can last for several months. Discussion : Hemichorea-Hemiballismus (HC-HB) is a rare disorder of involuntary movement, most often caused by focal lesions in the basal ganglia and the contralateral subthalamic nucleus. HC-HB is mainly caused by systemic processes both focal and diffuse. Nonketotic hyperglycemia is known to be a metabolic cause of HC-HB, especially in elderly patients with uncontrolled diabetes mellitus. Clinical manifestations and supporting patients support hyperglycemia and basal ganglia hyperdensity to be the etiology of hemiballismus experienced by patients. Conclusion : Many etiologies can cause this disorder, but vascular disorders and non-ketotic hyperglycemia are the most common etiologies. HC-HB in non-ketotic hyperglycemic is manifestation which is very rare in diabetes mellitus. The prognosis is quite good in most patients with or without treatment. This case report describes a successful treatment approach with positive results and a fairly short duration.

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.

Copper inhibits pressor responses to noradrenaline but not potassium. Interactions with prostaglandins E1, E2, and I2 and penicillamine

1979 ◽  
Vol 57 (1) ◽  
pp. 35-40 ◽  
Author(s):  
S. C. Cunnane ◽  
H. Zinner ◽  
D. F. Horrobin ◽  
M. S. Manku ◽  
R. O. Morgan ◽  
...  
Keyword(s):  
Dose Response ◽  
Response Curve ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Biological Action ◽  
Dose Response Curve ◽  
Low Concentrations ◽  
Pressor Responses ◽  
The Right ◽  
Copper Effect

Low concentrations of copper inhibited responses to norepinephrine and angiotensin (IC50 3 × 10−6 M) but not to potassium in rat mesenteric vascular preparations perfused either with buffer or indomethacin and prostaglandin (PGE2). The dose–response curve was not shifted by indomethacin, imidazole, or PGE2 but was moved to the right by 2.8 × 10−11 M PGE1 and to the left by 2.8 × 10−7 M PGE1. These effects of copper are similar to the effects of PGI2 in the preparation. Copper moved the PGI2 dose–response curve against noradrenaline in parallel to the left, suggesting that the two were interacting at some point. Penicillamine, which may stimulate PGE1 synthesis, had PGE1-like interactions with the copper effect, suggesting that its value in Wilson's disease may be partly due to antagonism of the biological action of copper as well as to its copper-chelating properties.

scholarly journals Involuntary movement in an emotionally labile girl : Think of Wilson’s Disease

2018 ◽  
Vol 6 (1) ◽  
pp. 57-59
Author(s):  
Chowdhury Rifat Niger ◽  
Raj Chowdhury ◽  
Chowdhury Akram Uz Zaman ◽  
Tamzeed Hossain ◽  
Rawshan Arra Khanam
Keyword(s):  
Clinical Features ◽  
Inborn Error ◽  
Biochemical Parameters ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Involuntary Movement ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Neurological Manifestations

Wilson’s Disease (WD) is a rare, autosomal recessive, inborn error of copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic or both, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser – Fleischer ring. Here, we are reporting a 13 years old girl who was affected by Wilson’s disease, with both neurological manifestations & hepatic involvement.Bangladesh Crit Care J March 2018; 6(1): 57-59

Wilson's disease tremor is associated with magnetic resonance imaging lesions in basal ganglia structures

2006 ◽  
Vol 21 (12) ◽  
pp. 2134-2139 ◽  
Author(s):  
Martin Südmeyer ◽  
Andreas Saleh ◽  
Lars Wojtecki ◽  
Mathias Cohnen ◽  
Joachim Gross ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Basal Ganglia ◽  
Magnetic Resonance ◽  
Wilson’S Disease ◽  
Wilson's Disease ◽  
Resonance Imaging ◽  
Basal Ganglia Structures

scholarly journals A INFLUÊNCIA DO EXCESSO DE PESO NA FORÇA MUSCULAR E NA FUNCIONALIDADE MULHERES JOVENS

2019 ◽  
Vol 8 (1) ◽  
pp. 250-262
Author(s):  
Pâmela Abreu Vargas Barbosa ◽  
Amanda Marques Faria ◽  
Daniella Alves Vento ◽  
Flávio Monteiro Ayres ◽  
Cibelle Kayenne Martins Roberto Formiga ◽  
...  
Keyword(s):  
Social Sciences ◽  
Muscle Strength ◽  
Young Women ◽  
Peak Torque ◽  
The Body ◽  
Lower Limbs ◽  
Cross Sectional ◽  
The Social ◽  
The Right ◽  
And Function

O objetivo foi verificar a influência do excesso de peso na força muscular e na funcionalidade de tronco de mulheres jovens. Estudo analítico transversal, com 54 mulheres de 18 a 30 anos, com excesso de peso (n=25), e eutróficas (n=29). A força muscular de tronco foi avaliada pelo dinamômetro isocinético e a funcionalidade de tronco e membros inferiores através do Bunkie Test. A análise dos dados foi realizada por meio do programa SPSS (Sciences Statistical Package for the Social Sciences). Como resultado, o presente estudo identificou que as mulheres com excesso de peso conseguem gerar pico de torque absoluto na 1º série (p=0,023), na 2º série (p=0,009), e no impulso na 2º série (p=0,009) maiores que as mulheres eutróficas. No entanto, quando o pico de torque foi analisado proporcionalmente ao peso corporal, estes valores foram menores, não sendo encontrada diferença entre os grupos (p0,05). Para o Bunkie Test, o grupo com excesso de peso apresentou pior desempenho na funcionalidade, principalmente nos movimentos de extensão, em decúbito dorsal, dos membros inferiores direito (p=0,011), esquerdo (p= 0,004) e na manutenção do tronco em decúbito lateral direito (p=0,008). Conclui-se que o excesso de peso pode alterar diretamente a força muscular e interferir na funcionalidade de tronco de mulheres jovens, sugerindo um desequilíbrio muscular em tronco e membros inferiores.Palavras-chave: Força Muscular. Obesidade. Funcionalidade. THE INFLUENCE OF OVERWEIGHT ON MUSCLE STRENGTH AND FUNCTION IN YOUNG WOMENABSTRACT: The aim of this study was to verify the influence of overweight on muscle strength and functionality in young women. This is a cross-sectional analytical study that was conducted with 54 women aged 18 and 30 years – twenty-five (25) were overweight and twenty-nine (29) were eutrophic. Muscle strength was assessed by an isokinetic dynamometer, whereas functionality was assessed by the Bunkie Test. Data analysis was performed using the SPSS program (Sciences Statistical Package for the Social Sciences). As a result, the present study identified that overweight women can generate absolute peak torque in the 1st grade (p = 0.023), in the 2nd grade (p = 0.009), and in the 2nd highest grade (p = 0.009) than eutrophic women. However, when the peak torque was analyzed proportionally to the body weight, these values were lower, and no difference was found between the groups (p 0.05). For the Bunkie Test, the overweight group presented worse performance in the functionality, especially in the extension movements, in the dorsal decubitus position, of the right lower limbs (p = 0.011), left (p = 0.004) and in the maintenance of the decubitus trunk right side (p = 0.008). It is concluded that overweight can directly affect muscle strength and interfere with the trunk function of young women, suggesting a muscle imbalance in the trunk and lower limbs.Keywords: Muscle Strength. Obesity. Functioning.

scholarly journals Submandibular lipoma in elderly female in mid western Nepal: A Case Report

2017 ◽  
Vol 4 (2) ◽  
pp. 46-49
Author(s):  
Bishow Tulachan ◽  
Buddha Nath Borgohain
Keyword(s):  
Needle Aspiration ◽  
The Body ◽  
Rare Entity ◽  
Medical Sciences ◽  
Diagnostic Dilemma ◽  
Submandibular Region ◽  
Medical College ◽  
Needle Aspiration Cytology ◽  
The Right ◽  
Rule Out

Background and Objectives: The submandibular lipomas are relatively rare entity. The reported age of the patients were from birth to 84 years old, and average being 55.7 years. These are mainly asymptomatic and mostly cause aesthetic concerns. Deep lipomas, especially in the head and neck, are not commonly reported. To our knowledge there’s not even a single publication regarding the lipoma in the submandibular region in our mid western region as well as in our country.Presentation of case: A 72 years old female presented with complaints of painless progressive neck swelling in the right submandibular region for about 2 years. Clinically, it was thought to be submandibular gland neoplasm/ lymphadenopathy. Ultrasonography (USG) and fine-needle aspiration cytology (FNAC) were done. It was negative for malignancy. She underwent excision of the mass under general anesthesia without postoperative complications. The histopathology confirmed it to be lipoma. Discussion: Lipoma is a common benign mesenchymal tumour that is found almost anywhere in the body. However, a large lipoma is relatively rare in the submandibular region. On clinical doubt, one can rely on USG / MRI (magnetic resonance imaging) and FNAC to rule out diagnostic dilemma. The treatment of choice is simply excision. Conclusion: It’s a rare entity and may be the first report of a lipoma in the submandibular region in an elderly people. One should rule out its possibility while going through the submandibular region diseases.Janaki Medical College Journal of Medical Sciences (2016) Vol. 4 (2): 46-49

scholarly journals Fahr’s syndrome as a differential diagnosis amid parkinsonian syndromes: a case report

2021 ◽  
Author(s):  
Luana de Rezende Mikael ◽  
Coralia Gabrielle Vieira Silveira ◽  
Camilla Duarte Ribeiro ◽  
Daniel Damiani ◽  
Pedro Henrique de Lara Leite ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Basal Ganglia ◽  
Underlying Disease ◽  
Lower Limbs ◽  
Parkinsonian Syndrome ◽  
Parkinsonian Syndromes ◽  
Fahr’S Syndrome ◽  
Atypical Presentations ◽  
The Right

Context: Parkinsonian syndromes are routinely identified by neurologists. However, the differential diagnosis among probable etiologies can be challenging and complex. In Fahr’s syndrome, calcifications of the basal ganglia secondary to disorders of calcium metabolism are observed. A possible clinical presentation associated with this entity is the presence of a parkinsonian syndrome. Case report: A 54-years-old female patient presented with a progressive tremor in the right upper and lower limbs associated with bradykinesia. Seizures were observed during the course of the disease. After extensive clinical workup, primary hypoparathyroidism was diagnosticated along with the recognition of a mutation in the calcium activator gene. Computed tomography and magnetic resonance imaging of the head showed bilateral coarse calcifications in thalami and basal ganglia compatible with Fahr’s syndrome. We began treatment for control of the underlying disease, as well as for symptomatic control of parkinsonism. Conclusions: Different pathologies could justify the parkinsonian syndrome observed initially in the case described. Among them: Iidiopathic Parkinson’s Disease, Multiple System Atrophy, Progressive Supranuclear Palsy. In our patient, the atypical evolution in a young woman led to the research of possible secondary treatable causes. A diagnosis of Fahr’s syndrome related to hypoparathyroidism was unveiled. The differential diagnosis of Parkinson’s Syndrome is broad and difficult. We must be aware of the possible atypical presentations due to the possibility of a secondary condition whose etiology could be effectively treated.

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