hepatolenticular degeneration/seizures

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Was Cavum Septum Pellucidum the Cause of Intractable Seizure in a 17-Year-Old Boy with Wilson Disease?

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BACKGROUND Cavum septum pellucidum (CSP), which is often found incidentally in a few populations, occasionally becomes symptomatic if enlarged significantly. Wilson disease (WD) is an uncommon autosomal recessive inborn defect in copper metabolism characterized by abnormal accumulation of copper in

Predictors of seizure in Wilson disease: A clinico-radiological and biomarkers study.

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There is paucity of studies on predictors of seizures in Wilson disease with neurological manifestation (WDNM), and none has evaluated the role of copper (Cu) induced oxidative stress, proinflammatory and excitotoxicity in the genesis of seizure.To report

Acute extrapyramidal syndrome and seizures as heralding manifestation of Wilson disease.

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Neurological Wilson disease in children: a three years experience from Multan.

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OBJECTIVE To describe the neurological manifestations, results of investigations and response to treatment in Wilson disease in children from Multan. METHODS This cross sectional study was conducted at Neurology Department of Children Hospital and Institute of Child Health Multan from June 2005 to

Anesthetic management of a pediatric patient with wilsons disease.

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Wilsons disease, characterized by cirrhosis, extrapyramidal symptoms and Kayser-Fleischer corneal rings, is a rare hereditary disease of human copper metabolism. Clinical findings in Wilsons disease are complex and neurological symptoms such as tremor, dysarthria, rigid dystonia, seizures,

[Clinical study on manifestation of hepatolenticular degeneration complicated with epilepsy and therapeutic effect of integrative Chinese and Western medicine treatment].

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OBJECTIVE To observe the clinical manifestation of 155 patients with hepatolenticular degeneration (HLD) complicated with epilepsy and the therapeutic effect of integrative Chinese and Western medicine treatment on them. METHODS Clinical manifestation of patients and its relationship with

Psychological presentations without hepatic involvement in Wilson disease.

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Wilson disease is an autosomal recessive inborn error of copper metabolism that leads to neurologic symptoms and variable degrees of hepatic damage. The most common characteristic signs clinically are liver disease, psychiatric disease, neurologic disease, or a combination of these. Early

Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity.

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Four unrelated children were thought to have valproate-associated hepatotoxicity. They presented with recurrent partial secondarily generalized status epilepticus and epilepsia partialis continua followed by mental and motor regression. Despite treatment with multiple antiepileptic medications, they

Misidentification of Wilson Disease as Schizophrenia (1998-2013): Case Report and Review.

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Wilson's disease (WD) is a neurodegenerative disorder due to copper metabolism. Schizophrenia-like psychosis and delusional disorder are rare forms of psychiatric manifestations of WD. The lack of recognition of these signs and symptoms as being attributable to WD often leads to delays in diagnosis

Clinical features and outcome of Wilson's disease with generalized epilepsy in Chinese patients.

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Generalized epilepsy is rarely reported in patients with Wilson disease (WD) and lacks experience in clinical practice. We aim to provide better experience for the diagnosis and treatment for WD patients with epilepsy in the future.A retrospective study was

Neuromuscular complication after liver transplant in children: a single-center experience.

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OBJECTIVE Neurologic complications are a significant cause of morbidity in children after liver transplant. In this study, we sought to evaluate the neurologic complications in children after liver transplant. METHODS All children aged younger than 18 years old who had undergone liver transplant

Infantile diffuse cerebral degeneration with hepatic cirrhosis.

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Four children had progressive degeneration of the cerebral cortex, with hepatic cirrhosis. They and four previously described ones, are representative of a distinct form of hepatocerebral degeneration. Onset of the neurological disorder is between ages 1 and 3 years, at times with mild developmental

Primary and secondary defects of the mitochondrial respiratory chain.

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Over 100 mutations of mitochondrial DNA (mtDNA) have been associated with human disease. The phenotypic manifestation of mtDNA mutations is extremely broad, from oligosymptomatic patients with isolated deafness, diabetes, ophthalmoplegia, etc., to complex encephalomyopathic disorders that may

[Basal ganglia calcification: clinical manifestations and diagnostic evaluation].

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Physiological intracranial calcification occurs in about 0,3-1,5% of cases. It is asymptomatic and is detected incidentally by neuroimaging. Pathological basal ganglia calcification is due to various causes, such as: metabolic disorders, infectious and genetic diseases and other. Hypoparathyroidism

Leukoencephalopathy syndrome after living-donor liver transplantation.

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OBJECTIVE Leukoencephalopathy syndrome is a neurologic complication after organ transplantation caused predominantly by the neurotoxic effects of immunosuppressive agents on cerebral white matter. We determined the incidence and features of leukoencephalopathy syndrome in recipients after

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