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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 14-year-old girl had an acute episode of rhabdomyolysis after vigorous exercise and seizures. Laboratory studies revealed elevated creatine phosphokinase (CPK) activity and myoglobinuria without acute renal failure, as well as mild indirect hyperbilirubinemia, and hyperuricemia. The elevated CPK activity, mild indirect hyperbilirubinemia, and hyperuricemia persisted during a 10-month follow-up period, during which chronic hemolysis without overt anemia was also noted. A muscle biopsy specimen from the left biceps muscle revealed occasional muscle fiber necrosis and mild excess of glycogen accumulation on periodic acid-Schiff staining. Histochemical reactions were negative with phosphofructokinase (PFK) stain when fructose-6-phosphate was used as the substrate, but positive when fructose 1,6-bisphosphate was used as the substrate. These findings confirmed the diagnosis of muscle PFK deficiency (Tarui's disease), which is a defect of glycolysis in muscles and erythrocytes. Less than 40 such patients have been reported to date. When a specific metabolic myopathy is suspected in children with rhabdomyolysis, symptoms of hemolysis should also be sought to identify Tarui's disease. To the best of our knowledge, this is the first case of Tarui's disease identified in Taiwan.
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PMID:Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. 1036 41

Little is known about the progression of phosphofructokinase deficiency (glycogenosis type VII, Tarui's disease). We describe a 66-year-old woman who had this disease diagnosed in 1997. Initial manifestations had included simple partial seizures since 1977, anginal chest pain since 1982, and muscle cramps since 1983. To prevent recurrent myocardial infarction, anticoagulation therapy with phenprocumon was initiated. Cardiac involvement progressed over an 8-year period, manifesting as low-voltage electrocardiogram (ECG), ectopic supraventricular tachycardia, thickened mitral valve, mitral valve insufficiency, enlarged left atrium, left ventricular hypertrophy, and diastolic dysfunction. Progression of neurologic involvement manifested as complex partial seizures, double vision, reduced tendon reflexes, central facial palsy, bradydiadochokinesia, and distal weakness of the upper extremities. Discontinuance of oral anticoagulation after 19 years, initiation of enalapril therapy, and administration of carbamazepine markedly improved the patient's condition.
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PMID:Neurologic and cardiac progression of glycogenosis type VII over an eight-year period. 1259 98

Muscle phosphofructokinase deficiency is known to cause childhood-onset exercise intolerance, muscle cramps, and myoglobinuria. Rarely, phosphofructokinase deficiency manifests in infancy as congenital myopathy and arthrogryposis with fatal outcome. Here, the authors report the case of a 2-year-old boy with infantile phosphofructokinase deficiency who presented on the third day of life with intractable seizures. Two of his sisters died in infancy with hypotonia, developmental delay, and seizure disorder of unclear etiology. On follow-up, he has had hypotonia and mild developmental delay. However, he continues to gain developmental milestones, and his seizures are now well controlled on carbamazepine. This presentation suggests expanding the phenotype of muscle phosphofructokinase deficiency to include early-onset neonatal seizures. It is also unusual in the relatively milder course of the infantile form of this disorder. The authors propose that this form of glycogen storage disease be considered in the differential diagnosis of neonatal seizures and early infantile nonprogressive muscle weakness.
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PMID:Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. 1760 17

Progressive heart valve thickening and shrinkage, and progressive muscle cramps have not been reported as manifestations of glycogenosis type VII (Tarui's disease). In a 72-year-old female, Tarui's disease was diagnosed in 1997, initially manifesting as simple partial seizures since 1977, anginal chest pain since 1982 and muscle cramps since 1983. During the following years, low voltage ECG, ectopic supraventricular tachycardia, thickening of the mitral valve, mitral valve insufficiency, enlarged left atrium, left ventricular hypertrophy and diastolic dysfunction also developed. Neurological manifestations progressed to complex partial seizures, double vision, reduced tendon reflexes, central facial palsy, bradydiadochokinesia, distal weakness of the upper extremities and worsening muscle cramps. Thickening and shrinkage of the heart valves had further increased at 72 years of age. Progression of Tarui's disease may manifest as progressive thickening of the heart valves due to glycogen storage. Valve thickening may consecutively lead to valve insufficiency, enlargement of the atrium and atrial fibrillation. Progression of neurological manifestations may manifest as worsening muscle cramps.
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PMID:Progressive mitral valve thickening and progressive muscle cramps as manifestations of glycogenosis VII (Tarui's Disease). 1807 78