Report of a case of Alpers-Huttenlocher syndrome associated with a heterozygous pathogenic variant in POLG
DOI:
https://doi.org/10.35366/107511Keywords:
Alpers-Huttenlocher syndrome, hepatocerebral syndrome, mitochondrial DNA depletion syndrome, POLG, regression of psychomotor developmentAbstract
Introduction: Alpers-Huttenlocher syndrome (AHS) is an autosomal recessive inheritance condition associated with POLG, characterized by the classic triad of epilepsy refractory to treatment with a focal component, regression of psychomotor development and liver disease. We present a clinical case of a mexican proband with clinical diagnosis of AHS. Clinical case: a girl of six years six months with adequate psychomotor development until 4 years of age. Subsequently, she presents insidious muscle weakness in the lower limbs and pain and myoclonic movements in both. Subsequently, cognitive deterioration occurs, she presents flaccid dysarthria, adequate head control, no trunk control with equinus foot deformity. Electroencephalogram with multiple epileptic discharges, direct bilirubin 1.69 mg/dL, serum lactic acid 20 mg/dL, magnetic resonance of the brain without alterations. By molecular testing, it was demonstrated a heterozygous pathogenic variant in POLG (c.1433+1G>A). Conclusion: the proband presents characteristics of SAH clinically, she presents only one pathogenic variant in POLG, it is not possible to rule out the presence of non-obvious variants due to the methodology used. To our knowledge, this is the first report of Alpers syndrome in a Mexican individual.
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