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Dysequilibrium Syndrome

DES


Presentation

  • A review of the literature on, proposed pathogenesis of, and prophylactic possibilities for dialysis dysequilibrium syndrome in neurosurgical patients is presented.[ncbi.nlm.nih.gov]
Falling
  • This unusually benign phenotype possibly relates to a less disruptive effect of the mutation, falling within a domain (EGF-B) not predicted as crucial for the protein function.[ncbi.nlm.nih.gov]
  • This fall was independent of the ultrafiltration rate.[annals.org]
  • Two theories are actually proposed to clarify why this happens: a reverse osmotic shift induced by urea ; and also a fall in cerebral intracellular pH.[dealingwithtinnitus.com]
  • Two theories have been proposed to explain why this occurs: a reverse osmotic shift induced by urea removal. fall in intracellular pH. 25 Clinical Manifestation The classic DDS develops during or immediately after hemodialysis.[slideplayer.com]
Short Stature
  • We have investigated a consanguineous Iranian family with eight patients who suffer from mental retardation, disturbed equilibrium, walking disability, strabismus and short stature.[ncbi.nlm.nih.gov]
  • Abstract We have investigated a consanguineous Iranian family with eight patients who suffer from mental retardation, disturbed equilibrium, walking disability, strabismus and short stature.[doi.org]
Fatigue
  • Stress, tension, or fatigue may cause the brain stem to function less efficiently, resulting in some loss of automatic reflex control of balance.[vestibular.org]
  • Changes in sensorium include loss of memory, impaired concentration, depression, delusions, lethargy, irritability, fatigue, insomnia, psychosis, stupor, catatonia, and coma.[emedicine.medscape.com]
Nausea
  • Clinical finding Headaches (often bilateral with throbbing), nausea, muscle cramps, hypertension, irritability, agitation, drowsiness, convulsions.[medical-dictionary.thefreedictionary.com]
  • This results in brain edema that manifests as neurological symptoms such as headache, nausea, vomiting, muscle cramps, tremors, disturbed consciousness, and convulsions. In severe cases, patients can die from advanced cerebral edema.[unboundmedicine.com]
  • Disequilibrium syndrome of dialysis has essentially the same symptoms as cerebral edema: dizzy, faint, lightheaded, ringing in the ears, racing pulse, feeling warm, sweating, nausea, vomiting, yawning, itching and severe muscle cramps (anywhere on the[allnurses.com]
  • Nausea & vomiting. dyspnea. The acute management of low blood pressure associated with hemodialysis includes the following: 12 Ultrafiltration should either be stopped or the rate decreased.[slideplayer.com]
  • Nausea and vomiting can be treated medically using medications like ondansetron. If seizures ever happen, the typical recommendation is to stop dialysis and initiate antiseizure medications.[verywell.com]
Muscle Twitch
  • The most common signs and symptoms presented in dialysis disequilibrium disorder are restlessness, continuous headaches, episodes of mental confusion in the patient, occasional muscle twitching and sometimes patients have even presented a coma, along[joecosgrovepentechealth.wordpress.com]
  • Symptoms The formation central edema causes increase intracranial pressure, therefore, symptoms are quite similar as acute hyponatremia, The included symptoms are 5 Restlessness, Headache, Mental confusion Occasional muscle twitching Coma Apart from this[syndromespedia.com]
  • Patients may complain of slurred speech, pruritus, muscle twitches, or restless legs. Physical Physical findings are variable and depend on the severity of the encephalopathy. Neurologic findings range from normal to a comatose state.[emedicine.medscape.com]
Muscle Hypotonia
  • Clinical features include severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, athetosis, ophthalmoplegia, and sensorineural[ncbi.nlm.nih.gov]
Psychomotor Retardation
  • Clinical features include cerebellar ataxia with wide-based gait, psychomotor retardation, intention tremor, and dysarthria. Affected individuals are from a Grand Cayman Island isolate. Neuroimaging is characterized by cerebellar hypoplasia.[ncbi.nlm.nih.gov]
Headache
  • In rare cases severe headaches can be associated with other serious conditions so any recurring headaches should be taken seriously and brought to the attention of your Nephrologist to identify the precise cause.[kidneybuzz.com]
  • The signs and symptoms vary widely from restlessness and headache to coma and death.[utsouthwestern.influuent.utsystem.edu]
  • Patients who have headaches on dialysis in the absence of hypotension and suspected dialysis disequilibrium should be questioned about : Caffien use, which can sometimes precipitate headache Metabolic disturbances (eg, hypoglycemia, hypernatremia, hyponatremia[slideplayer.com]
  • This results in brain edema that manifests as neurological symptoms such as headache, nausea, vomiting, muscle cramps, tremors, disturbed consciousness, and convulsions. In severe cases, patients can die from advanced cerebral edema.[unboundmedicine.com]
  • The symptoms can vary from mild ones like headache to the most severe forms where patients can develop coma, or even death .[verywell.com]
Ataxia
  • An 18-month-old girl presented with significant hypotonia, global developmental delay, and truncal and peripheral ataxia.[ncbi.nlm.nih.gov]
  • About this article Publication history Published 28 November 2007 DOI Further reading Systematic review of autosomal recessive ataxias and proposal for a classification Marie Beaudin, Christopher J. Klein, Guy A.[doi.org]
Cerebellar Ataxia
  • BACKGROUND: Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[ncbi.nlm.nih.gov]
  • A homozygous deletion encompassing VLDLR has previously been found to cause a syndrome of cerebellar ataxia and mental retardation associated with cerebellar hypoplasia in the Hutterite population known as dysequilibrium syndrome (DES).[doi.org]
Tremor
  • Variable signs were extensor plantar reflexes (9/11), short stature (-2SD in 8/11), strabismus (7/11), small muscle mass (6/11), mild intention tremor (3/11), cataracts (1/11), and epilepsy (1/11).[ncbi.nlm.nih.gov]
  • This results in brain edema that manifests as neurological symptoms such as headache, nausea, vomiting, muscle cramps, tremors, disturbed consciousness, and convulsions. In severe cases, patients can die from advanced cerebral edema.[unboundmedicine.com]
  • Critically ill patients at risk for DDS include recent CVA, head trauma, subdural hematoma, hyponatremia,, hypertensive emergency, and hepatic encephalopathy Mild cases are characterized by restlessness, nausea, vomiting, headache, disorientation, and tremors[umem.org]
  • Symptoms Symptoms result from brain edema, varying from mild to severe: Headache Nausea with or without vomiting Dizziness Muscle cramp Blurred vision Tremors Restlessness Agitation Alteration of consciousness Seizure Coma Sudden cardiac arrest Syndrome[renalandurologynews.com]
  • Variable signs were extensor plantar reflexes (9/11), short stature (–2SD in 8/11), strabismus (7/11), small muscle mass (6/11), mild intention tremor (3/11), cataracts (1/11), and epilepsy (1/11).[doi.org]
Dysarthria
  • RESULTS: Five patients had non-progressive cerebellar ataxia (NPCA), dysarthria and short stature. Mental retardation and strabismus, characteristic for DES-VLDLR, were inconsistent among our patients.[ncbi.nlm.nih.gov]
  • Symptoms include dysarthria, apraxia, personality changes, psychosis, myoclonus, seizures and, finally, dementia. In most cases, the condition progresses to death in 6 months.[emedicine.medscape.com]
  • The recognized symptoms of VLDLRCH are moderate-to-severe intellectual disability, seizures, dysarthria, strabismus and delayed locomotion.[en.wikipedia.org]

Workup

  • Further workup did not reveal any clear toxic, cerebrovascular or metabolic cause. I’m not sure what role dialysis played in the seizure but we did do our best to try and minimize the risk of DDS.[renalfellow.blogspot.com]
  • Following septic workup, his antibiotic management was changed to meropenem.[onlinejets.org]

Treatment

  • He recovered neurologically without any residuum following appropriate treatment and there was improvement on MRI.[ncbi.nlm.nih.gov]
  • Treatment of this syndrome once it has developed is rarely successful. Thus, measures to avoid its development are crucial.[utsouthwestern.influuent.utsystem.edu]
  • The blood purifying treatment for their chronic kidney disease is already pretty aggressive, and it gets even tougher when this treatment gets unexpected complications.[joecosgrovepentechealth.wordpress.com]
  • This comprehensive text reference seeks to assist physicians with treatment by providing an easy-to-use compendium covering the treatment and management of all neurological diseases along with details on the natural course of these diseases.[books.google.de]
  • Qb and treatment time can be increased in a step wise manner over the next 3-4 daily treatments. This is incorrect. Try again.[hemodialysiskinetics.coursepress.yale.edu]

Prognosis

  • Overall prognosis is good, with rapid recovery after treatment of the rejection episode. The presumed pathology is cytokine production secondary to the rejection process. Uremic polyneuropathy is the most common neurologic complication of RF.[emedicine.medscape.com]

Etiology

  • Abstract A new model of the uniqueness, nature and evolution of human bipedality is presented in the context of the etiology of the balance disorder of dysequilibrium syndrome. Human bipedality is biologically novel in several remarkable respects.[ncbi.nlm.nih.gov]
  • Elderly and pediatric patients Patients with pre-existing CNS lesions (recent stroke, head trauma) or conditions characterized by cerebral edema (malignant hypertension, hyponatremia, hepatic encephalopathy) High pre-dialysis BUN Severe metabolic acidosis Etiology[advancedrenaleducation.com]
  • Low PTH Values and high serum Creatin phosphokinase is frequent finding 16 Etiology Plasma volume contraction. Tissue hypoxia Hyponatremia. Hypomagnesemia. Carnitine deficiency. 17 Treatment.[slideplayer.com]
  • Etiology The cause of DDS is currently not well understood.[ipfs.io]
  • Sara and Ylva Floderus, The dysequilibrium syndrome: a study of the etiology and pathogenesis, Clinical Genetics, 27, 2, (191-195), (2008). Peter Bowen, John M. Opitz and James F.[doi.org]

Epidemiology

  • The Kidney Disease Questionnaire: A test for measuring patient knowledge about end-stage renal disease, ¡ournal of Clinical Epidemiology, 43(3), 297-307. ‎[books.google.de]
Sex distribution
Age distribution

Pathophysiology

  • In this review, we will examine the pathophysiology of this syndrome and discuss the factors to consider in avoiding its development.[utsouthwestern.influuent.utsystem.edu]
  • Using a case study, this article discusses the pathophysiology, clinical manifestations, prevention, and management of dialysis disequilibrium syndrome.[augusta.pure.elsevier.com]
  • The chronobiology, etiology and pathophysiology of obesity. Int J Obes (Lond) 2010; 34(12): 1667-1683. Touitou Y, Selmaoui B.[revistas.proeditio.com]
  • Recent advancements in cell biology implicate the role of urea disequilibrium (with a smaller contribution from organic osmolytes) as the pathophysiological mechanism responsible for this syndrome.[unboundmedicine.com]
  • Home CCC End-Stage Renal Failure by, last update April 9, 2019 OVERVIEW End-stage renal failure has multiple implications for ICU management PATHOPHYSIOLOGICAL CHANGES AND IMPLICATIONS Renal/ fluid: Low/no urine output fluid overload Metabolic and Endocrine[lifeinthefastlane.com]

Prevention

  • The prevention can be achieved by preventing the raising of an osmotic gradient. Hemofiltration is one of the simple ways to achieve this.[syndromespedia.com]
  • Using a case study, this article discusses the pathophysiology, clinical manifestations, prevention, and management of dialysis disequilibrium syndrome.[augusta.pure.elsevier.com]
  • For this reason, it is critical that dialysis personnel do everything they can to prevent dialysis disequilibrium syndrome from developing in the first place.[dialysistechniciansalary.org]
  • How can it be prevented? In order to prevent Dialysis Disequilibrium Syndrome, the dialysis treatment should be reduced in patients that have been identified as a high risk, commonly due to their end-stage renal disease.[joecosgrovepentechealth.wordpress.com]

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