Batten the mistery disease: A brief on batten disease
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The word Batten which it seems very rare and recessivene urder active disease which mainy found in children .Generally it grws with childhood which is the most common form of a group of diseasorder called as neuronal ceroid lipofuscinoses. In the field of medicine it is also called as Neuronal Ceroid Lipofuscinosis (NCL).The major difference between Batten and NCL are: Progressivness, age of onset, side effect, pathogenic response, mode of action to receptor etc.It is a genetic diseasorder which generay deveped during childhood The maximum risk factor is in between the age 5 to10.At eary stage the major symptoms are seizure and eye prbelms The earliest symptoms range from being fairly obvious, with a child experiencing seizures or vision problems, through to subtle signs such as mild personality changes or clumsiness. Now a day by through the development of many animal model and by the help of new technology gradually we controll over the disease.Keywords:
Batten disease
Neuronal ceroid lipofuscinosis
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Twenty-six children with juvenile Batten9s disease are reviewed. On clinical and histological evidence they appear to represent a specific disease entity, which though rare is a substantial cause of blindness in children aged 5--15 years. Children present with rapid progressive visual loss at age 6--7 years, early mental deterioration, and fits about 2--4 years later, and this is the stage at which the diagnosis is usually made. Macular degeneration appears to be a consistent early feature, and peripheral retinal changes become more marked as the disease progresses. Phototoxicity may possibly play a part in the retinal degeneration.
Degeneration (medical)
Batten disease
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Clinical characteristics Arylsulfatase A deficiency (also known as metachromatic leukodystrophy or MLD) is characterized by three clinical subtypes: late-infantile MLD, juvenile MLD, and adult MLD. Age of onset within a family is usually similar. The disease course may be from several years in the late-infantile-onset form to decades in the juvenile- and adult-onset forms. Late-infantile MLD. Onset is before age 30 months. Typical presenting findings include weakness, hypotonia, clumsiness, frequent falls, toe walking, and dysarthria. As the disease progresses, language, cognitive, and gross and fine motor skills regress. Later signs include spasticity, pain, seizures, and compromised vision and hearing. In the final stages, children have tonic spasms, decerebrate posturing, and general unawareness of their surroundings. Juvenile MLD. Onset is between age 30 months and 16 years. Initial manifestations include decline in school performance and emergence of behavioral problems, followed by gait disturbances. Progression is similar to but slower than in the late-infantile form. Adult MLD. Onset occurs after age 16 years, sometimes not until the fourth or fifth decade. Initial signs can include problems in school or job performance, personality changes, emotional lability, or psychosis; in others, neurologic symptoms (weakness and loss of coordination progressing to spasticity and incontinence) or seizures initially predominate. Peripheral neuropathy is common. Disease course is variable – with periods of stability interspersed with periods of decline – and may extend over two to three decades. The final stage is similar to earlier-onset forms. Diagnosis/testing The diagnosis of MLD is established in a proband with progressive neurologic dysfunction, MRI evidence of leukodystrophy, or ARSA enzyme deficiency and identification of biallelic ARSA pathogenic variants on molecular genetic testing, or identification of elevated urinary excretion of sulfatides, or less commonly, identification of metachromatic lipid deposits in nervous system tissue. Management Treatment of manifestations: Physical therapy and an enriched environment to maximize intellect, neuromuscular function, and mobility; family support to enable parents and/or caregivers to anticipate decisions on walking aids, wheelchairs, feeding tubes, and other changing care needs; treatment of seizures using antiepileptic drugs in standard protocols; treatment of contractures with muscle relaxants. Standard treatments for gastroesophageal reflux, constipation, drooling, dental care, pulmonary function, and impaired vison. Prevention of primary manifestations: Hematopoietic stem cell transplantation (HSCT) is the only therapy for primary central nervous system manifestations. Outcomes depend on the clinical stage and the presence of neurologic symptoms. The best results are observed when HSCT is performed in pre- and very early symptomatic individuals with the juvenile or adult form of the disease. HSCT is not recommended for individuals with symptomatic, late-infantile MLD. Prevention of secondary complications: Therapies designed to prevent decline in mobility, cognitive ability, communication, or food intake; safety measures for movement limitations and seizure precautions. Surveillance: Regular monitoring by a neurologist or metabolic geneticist including evaluation for changes in motor function, development of seizures, contractions, feeding difficulties, and disease progression following anesthesia or fever; periodic brain MRI examination. Genetic counseling MLD is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing of at-risk family members and prenatal testing for a pregnancy at increased risk are possible if both ARSA pathogenic variants have been identified in an affected family member.
Personality changes
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The neurodegenerative diseases of infancy and childhood include disorders in which there is progressive loss of neurological function due to structural abnormalities of the central nervous system. Well over six hundred disorders, many of which are rarely seen, can be included in this category. Yet, the conditions represent collectively over one-fourth of all admissions to pediatric neurology services. Five-year samples of admission characteristics of 1218 patients from two medical centers over twenty-two years permit an estimate of the frequency of the neurodegenerative diseases. The six most-encountered diagnoses, in declining order, were: subacute sclerosing panencephalitis; neuronal ceroid lipofuscinosis; tuberous sclerosis with degeneration; West disease, or idiopathic degenerative encephalopathy associated with infantile spasms; Werdnig-Hoffmann disease, and hereditary spastic paraplegia. A classification is offered grouping the neurodegenerative disorders into five major categories: polioencephalopathies, leukoencephalopathies, corencephalopathies, spinocerebellopathies, and diffuse encephalopathies. Disorders in each subgroup may be either genetic or nongenetic. Neurodegenerative diseases have multiple causes, including metabolic, viral, immunopathic, environmental, and epileptogenic. The cause of many remains unknown.
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Pathognomonic
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Degeneration (medical)
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The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, autosomal recessive, and progressive neurodegenerative diseases, which result from an enzymatic defect or the deficiency of a transmembrane protein, leading to the accumulation of lipopigments (lipofuscin) in various tissues. NCL results in the impairment of function in several end-organs including the central nervous system with loss of cognitive and motor function, myoclonus, and intractable seizures. Additional involvement includes the cardiovascular system with arrhythmias and bradycardia as well as impairment of thermoregulation leading to perioperative hypothermia. Given the complexity of the end-organ involvement and the progressive nature of the disorder, the anesthetic care of such patients can be challenging. Till date, there are a limited number of reports regarding the anesthetic management of patients with NCL. We present an 18-year-old patient with NCL who required anesthetic care during replacement of a vagal nerve stimulator. Previous reports of anesthetic care for these patients are reviewed, the end-organ involvement of NCL discussed, and options for anesthetic care presented.
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ABSTRACT Inborn errors of metabolism in adults are still largely unexplored. Despite the fact that adult‐onset phenotypes have been known for many years, little attention is given to these disorders in neurological practice. The adult‐onset presentation differs from childhood‐onset phenotypes, often leading to considerable diagnostic delay. The identification of these patients at the earliest stage of disease is important, given that early treatment may prevent or lessen further brain damage. Neurological and psychiatric symptoms occur more frequently in adult forms. Abnormalities of eye movements are also common and can be the presenting sign. Eye movement disorders can be classified as central or peripheral. Central forms are frequently observed in lysosomal storage disorders, whereas peripheral forms are a key feature of mitochondrial disease. Furthermore, oculogyric crisis is an important feature in disorders affecting dopamine syntheses or transport. Ocular motor disorders are often not reported by the patient, and abnormalities can be easily overlooked in a general examination. In adults with unexplained psychiatric and neurological symptoms, a special focus on examination of eye movements can serve as a relatively simple clinical tool to detect a metabolic disorder. Eye movements can be easily quantified and analyzed with video‐oculography, making them a valuable biomarker for following the natural course of disease or the response to therapies. Here, we review, for the first time, eye movement disorders that can occur in inborn errors of metabolism, with a focus on late‐onset forms. We provide a step‐by‐step overview that will help clinicians to examine and interpret eye movement disorders. © 2018 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.
Movement Disorders
Ocular Motility Disorders
Mitochondrial disease
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Huntington's disease is an autosomal dominant slowly degenerative apoptotic condition in CNS, in particular in striatum. It is characterized by involuntary movements; in particular chorea, personality changes and subcortical dementia. About 250 persons are diagnosed in Norway with the condition at any time, most are diagnosed between 35 and 55 years but onset before 20 years of age can be seen and diagnosis in later life is not rare. The average duration is about 15 years from diagnosis to death, but it can be considerably longer. Signs, symptoms and therapeutic challenges are mentioned in addition to molecular and clinical genetic aspects, in particular pre-symptomatic and prenatal diagnosis.
Personality changes
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