Abstract
Glycogen storage diseases are rare genetic disorders, mostly autosomal recessively inherited. Abnormal accumulation is because of the lack of one of the enzymes involved in glycogen metabolism. Neurological manifestation of the diseases involves muscle weakness and hypoglycemia-induced seizures. In this article, we present a history of twin sisters with unusual coincidence of glycogenosis type IIIb and epilepsy. Hypoglycemic background of seizures and organic changes of the central nervous system were excluded. Since the introduction of antiepileptic treatment, the patients have been seizure-free; however, paroxysmal electroencephalographic (EEG) changes have persisted. A high-protein and low-carbohydrate diet has protected them against hypoglycemia.
MeSH terms
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Anticonvulsants / therapeutic use
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Brain Mapping / methods*
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Cerebral Cortex / drug effects
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Cerebral Cortex / physiopathology
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Child, Preschool
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Combined Modality Therapy
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Diet, Carbohydrate-Restricted
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Dietary Proteins / administration & dosage
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Diseases in Twins / diagnosis
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Diseases in Twins / genetics*
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Diseases in Twins / physiopathology*
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Diseases in Twins / therapy
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Electroencephalography / methods*
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Epilepsy / diagnosis
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Epilepsy / genetics*
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Epilepsy / physiopathology*
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Epilepsy / therapy
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Female
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Follow-Up Studies
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Genetic Carrier Screening
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Glycogen Storage Disease Type III / diagnosis
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Glycogen Storage Disease Type III / genetics*
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Glycogen Storage Disease Type III / physiopathology*
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Humans
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Infant
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Infant, Newborn
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Poland
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Signal Processing, Computer-Assisted*
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Spasms, Infantile / diagnosis
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Spasms, Infantile / genetics*
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Spasms, Infantile / physiopathology*
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Spasms, Infantile / therapy
Substances
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Anticonvulsants
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Dietary Proteins