نتایج جستجو برای: neurometabolic disorder
تعداد نتایج: 597203 فیلتر نتایج به سال:
OBJECTIVE Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder. MATERIALS & METHODS The patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder w...
Because of the wide availability of hardware as well as of standardized analytic quantification tools, proton magnetic resonance spectroscopy ((1)H-MRS) has become widely used to study psychiatric disorders. (1)H-MRS allows measurement of brain concentrations of more traditional singlet neurometabolites like N-acetylaspartate, choline, and creatine. More recently, quantification of the more com...
Aromatic L-amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive neurometabolic disorder that leads to a severe combined deficiency of serotonin, dopamine, norepinephrine and epinephrine. Onset is early in life, and key clinical symptoms are hypotonia, movement disorders (oculogyric crisis, dystonia, and hypokinesia), developmental delay, and autonomic symptoms.In this cons...
Major advances have been made in the clinical and radiologic characterization of children presenting with the different forms of an acquired inflammatory demyelinating syndrome (ADS) such as acute disseminating encephalomyelitis, neuromyelitis optica spectrum disorders, and clinically isolated syndromes. Nevertheless, a proportion of cases that present with similar symptoms are due to a broad s...
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic accumulation in multiple tissues. Progressive neuropsychiatric disturbances are a frequent manifestation of this disease. Although seizures have been frequently noticed as...
Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC presented with ...
L-2-hydroxyglutaric aciduria is a rare and novel autosomal recessive inherited neurometabolic disorder. Since its first description by Duran in 1980, less than 100 cases have so far been reported. Occurring mostly in childhood, it is characterized by slowly progressive neurological dysfunction with cerebellar ataxia, pyramidal signs, intellectual decline, seizure, and extrapyramidal symptoms. M...
INTRODUCTION: Glutaric aciduria type 1 is a neurometabolic disorder occurring due to deficient activity of glutaryl-CoA dehydrogenase. Multiple neurotoxic metabolites start accumulating in plasma, CSF and urine which are detected by mass spectrometry. Early new-born screening plays an important role early diagnosis whereas typical radiographic features metabolic workup supports the diagnosis. T...
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