Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

[pyruvate dehydrogenase deficiency]

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 Â =Â 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 .

Diseases
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Diseases presenting "mitochondrial disorder" symptom

alexander disease

coats disease

dystrophic epidermolysis bullosa

inclusion body myositis

pyruvate dehydrogenase deficiency

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