Childhood chorea with cerebral hypotrophy: a treatable GLUT1 energy failure syndrome.
OBJECTIVE
To expand the spectrum of glucose transporter type 1 deficiency syndromes with a novel clinical and radiological phenotype not associated with microcephaly.


METHODS
Case report.


METHODS
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.
Pérez-Dueñas
Belén
B
Department of Neurology, Hospital Universitari Sant Joan de Déu, Barcelona, Spain.
Prior
Catherina
C
Ma
Qian
Q
Fernández-Alvarez
Emilio
E
Setoain
Xavier
X
Artuch
Rafael
R
Pascual
Juan M
JM
D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000178:diet therapy* / Q000235:genetics / Q000473:pathology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000178:diet therapy / Q000235:genetics / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000178:diet therapy / Q000235:genetics* / Q000473:pathology; D002658:Developmental Disabilities / Q000235:genetics; D055423:Diet, Ketogenic; D027342:Excitatory Amino Acid Transporter 2 / Q000235:genetics*; D005260:Female; D005947:Glucose / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D013577:Syndrome
D027342:Excitatory Amino Acid Transporter 2; D005947:Glucose