Familial neurodegenerative disorder associated with raised urinary VMA.
نویسندگان
چکیده
منابع مشابه
Familial Hypomagnesemia with Secondary Hypocalcemia Mimicking Neurodegenerative Disorder.
BACKGROUND Familial hypomagnesemia with secondary hypocalcemia is a genetic disorder of magnesium metabolism that presents with refractory seizures in infancy. CASE CHARACTERISTICS We herein report an infant with familial hypomagnesemia who presented as medically-refractory seizures and had cerebral atrophy on neuroimaging. Interestingly he had lost previous two siblings because of lack of co...
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Hypoxia has been regarded as one of the many factors stimulating augmented catecholamine biosynthesis (Vogt, 1960). Plasma levels of epinephrine and norepinephrine were found to be increased in newborns with the respiratory distress syndrome or placental insufficiency (Cheek, Malinek, and Fraillon, 1963). Infants with severe heart failure eliminate in the urine twice as much metanephrine, norme...
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Pathological accumulation of intermediate filaments can be observed in neurodegenerative disorders, such as Alzheimer's disease, frontotemporal dementia and Parkinson's disease, and is also characteristic of neuronal intermediate filament inclusion disease. Intermediate filaments type IV include three neurofilament proteins (light, medium and heavy molecular weight neurofilament subunits) and α...
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Two families with familial exudative vitreoretinopathy were studied in which platelet aggregation defects were found in all the affected members. The major defect observed was absent platelet aggregation with arachidonic acid. In addition platelet aggregation with collagen and adrenaline was reduced in one severely affected member. The implication of the platelet aggregation defect in the patho...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1979
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.54.1.80-a