TY - JOUR
T1 - Alternating hemiplegia of childhood
T2 - Metabolic studies in the largest European series of patients
AU - Fons, Carmen
AU - Campistol, Jaume
AU - Panagiotakaki, Eleni
AU - Giannotta, Melania
AU - Arzimanoglou, Alexis
AU - Gobbi, Giuseppe
AU - Neville, Brian
AU - Ebinger, Friedrich
AU - Nevšímalová, Soňa
AU - Laan, Laura
AU - Casaer, Paul
AU - Spiel, Georg
AU - Ninan, Miriam
AU - Sange, Guenter
AU - Artuch, Rafael
AU - Schyns, Tsveta
AU - Vavassori, Rosaria
AU - Poncelin, Dominique
PY - 2012/1
Y1 - 2012/1
N2 - Alternating hemiplegia of childhood (AHC) is a rare disorder with diagnosis based on clinical criteria, as no laboratory, neuroradiological or genetic markers are currently available. The pathogenic mechanisms are still an enigma. Some hypotheses have been proposed such as hemiplegic migraine variant, epileptic mechanism, channelopathy and mitochondrial disorder, but none of these has been confirmed. Our aim was to analyze the results of metabolic studies performed on a series of 157 European patients who fulfilled diagnostic criteria for AHC. We tried to find a common metabolic abnormality, related with AHC. We did not find significant abnormalities in basic metabolic screening, at different ages. Neurotransmitters in cerebrospinal fluid (n = 26) were normal in all of the patients. Mitochondrial respiratory chain enzyme activities were analyzed in 19 muscle biopsies; in 4 cases, different MRC enzyme deficiencies were demonstrated, ranging from mild-unspecific deficiencies to more profound and probably primary defects. Although we did not find specific metabolic markers in our series, some metabolic disorders such as pyruvate dehydrogenase deficiency, MELAS, cerebral glucose transporter defect and neurotransmitter deficiency can exhibit symptoms similar to those of AHC and need to be ruled out before a diagnosis of AHC can be established. Further studies including high-throughput diagnostic technologies seem necessary to elucidate the etiology of this severe and enigmatic disorder.
AB - Alternating hemiplegia of childhood (AHC) is a rare disorder with diagnosis based on clinical criteria, as no laboratory, neuroradiological or genetic markers are currently available. The pathogenic mechanisms are still an enigma. Some hypotheses have been proposed such as hemiplegic migraine variant, epileptic mechanism, channelopathy and mitochondrial disorder, but none of these has been confirmed. Our aim was to analyze the results of metabolic studies performed on a series of 157 European patients who fulfilled diagnostic criteria for AHC. We tried to find a common metabolic abnormality, related with AHC. We did not find significant abnormalities in basic metabolic screening, at different ages. Neurotransmitters in cerebrospinal fluid (n = 26) were normal in all of the patients. Mitochondrial respiratory chain enzyme activities were analyzed in 19 muscle biopsies; in 4 cases, different MRC enzyme deficiencies were demonstrated, ranging from mild-unspecific deficiencies to more profound and probably primary defects. Although we did not find specific metabolic markers in our series, some metabolic disorders such as pyruvate dehydrogenase deficiency, MELAS, cerebral glucose transporter defect and neurotransmitter deficiency can exhibit symptoms similar to those of AHC and need to be ruled out before a diagnosis of AHC can be established. Further studies including high-throughput diagnostic technologies seem necessary to elucidate the etiology of this severe and enigmatic disorder.
KW - Alternating hemiplegia
KW - GLUT-1 deficiency
KW - Mitochondrial encephalopathy
KW - Neurotransmitter disorder
UR - http://www.scopus.com/inward/record.url?scp=84655161428&partnerID=8YFLogxK
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U2 - 10.1016/j.ejpn.2011.08.006
DO - 10.1016/j.ejpn.2011.08.006
M3 - Article
C2 - 21945173
AN - SCOPUS:84655161428
VL - 16
SP - 10
EP - 14
JO - European Journal of Paediatric Neurology
JF - European Journal of Paediatric Neurology
SN - 1090-3798
IS - 1
ER -