Epilepsy and Electrophysiological Findings in Polish Twins With Glycogenosis Type IIIb

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...

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Bibliographic Details
Published in:Clinical EEG and neuroscience 2014-07, Vol.45 (3), p.201-204
Main Authors: Kroczka, Sławomir, Biedroń, Agnieszka, Kaciński, Marek
Format: Article
Language:English
Subjects:
Age
Anticonvulsants - therapeutic use
Brain damage
Brain Mapping - methods
Brain research
Cerebral Cortex - drug effects
Cerebral Cortex - physiopathology
Child, Preschool
Combined Modality Therapy
Consciousness
Diabetes
Diet, Carbohydrate-Restricted
Dietary Proteins - administration & dosage
Disease
Diseases in Twins - diagnosis
Diseases in Twins - genetics
Diseases in Twins - physiopathology
Diseases in Twins - therapy
Electroencephalography - methods
Enzymes
Epilepsy - diagnosis
Epilepsy - genetics
Epilepsy - physiopathology
Epilepsy - therapy
Female
Follow-Up Studies
Genetic Carrier Screening
Glucose
Glycogen Storage Disease Type III - diagnosis
Glycogen Storage Disease Type III - genetics
Glycogen Storage Disease Type III - physiopathology
Humans
Hypoglycemia
Infant
Infant, Newborn
Neurology
NMR
Nuclear magnetic resonance
Pediatrics
Poland
Signal Processing, Computer-Assisted
Spasms, Infantile - diagnosis
Spasms, Infantile - genetics
Spasms, Infantile - physiopathology
Spasms, Infantile - therapy
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Summary: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.
ISSN:1550-0594
2169-5202
DOI:10.1177/1550059413500276