TY - JOUR
T1 - Childhood chorea with cerebral hypotrophy
T2 - A treatable GLUT1 energy failure syndrome
AU - Pérez-Dueñas, Belén
AU - Prior, Catherina
AU - Ma, Qian
AU - Fernández-Álvarez, Emilio
AU - Setoain, Xavier
AU - Artuch, Rafael
AU - Pascual, Juan M.
PY - 2009/11
Y1 - 2009/11
N2 - Objective: To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly. Design: Case report. Setting: Two academic medical centers. Patient: A 7-year-old patient followed up for 4 years. Results: The patient exhibited a predominant syndrome of chorea and mental retardation associated with a combination of paroxysmal ataxia, dysarthria, dystonia and aggravated intellectual disability induced by fasting or exertion. She harbored a sporadic, heterozygous amino acid insertion in the GLUT1 transporter (insY292) that, in all likelihood, impaired blood-brain glucose flux. Her brain configuration appeared hypotrophic via magnetic resonance imaging, particularly over the occipital lobes. A ketogenic diet resulted in brain growth that accompanied a favorable symptomatic outcome. Conclusions: To date, glucose transporter type 1 deficiency syndrome includes several epileptic and movement disorder phenotypes caused by the clinical expressivity of the prominent cortical, basal ganglia, and cerebellar abnormalities found in the disease, but hypomorphic or novel variants are probably yet to be discovered.
AB - Objective: To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly. Design: Case report. Setting: Two academic medical centers. Patient: A 7-year-old patient followed up for 4 years. Results: The patient exhibited a predominant syndrome of chorea and mental retardation associated with a combination of paroxysmal ataxia, dysarthria, dystonia and aggravated intellectual disability induced by fasting or exertion. She harbored a sporadic, heterozygous amino acid insertion in the GLUT1 transporter (insY292) that, in all likelihood, impaired blood-brain glucose flux. Her brain configuration appeared hypotrophic via magnetic resonance imaging, particularly over the occipital lobes. A ketogenic diet resulted in brain growth that accompanied a favorable symptomatic outcome. Conclusions: To date, glucose transporter type 1 deficiency syndrome includes several epileptic and movement disorder phenotypes caused by the clinical expressivity of the prominent cortical, basal ganglia, and cerebellar abnormalities found in the disease, but hypomorphic or novel variants are probably yet to be discovered.
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U2 - 10.1001/archneurol.2009.236
DO - 10.1001/archneurol.2009.236
M3 - Article
C2 - 19901175
AN - SCOPUS:70449671049
SN - 0003-9942
VL - 66
SP - 1410
EP - 1414
JO - Archives of neurology
JF - Archives of neurology
IS - 11
ER -