A case of action myoclonus-renal failure syndrome caused by SCARB2 gene mutation / 中华神经科杂志

ABSTRACT

The article reported the clinical, electrophysiological, renal pathology and gene mutation characteristics of a patient with action myoclonus-renal failure syndrome (AMRF). The patient was a young male who developed epilepsy at the age of 16 and gradually developed tremor, ataxia, and myoclonic seizures. Brain magnetic resonance imaging was normal. The electrophysiological manifestations of the nerve were symmetrical multiple sensory and motor nerve conduction velocity deceleration, especially the easily embedded site of the nerve. Renal pathology showed focal segmental glomerulosclerosis. A new complex heterozygous mutation of SCARB2 gene c.534_537delinsCT (chr47710074) and c.358G>T (chr47710217) was detected in the patient and verified by his family. The 2 heterozygous mutations were respectively from the patient′s parents. AMRF is a rare type of epilepsy in adolescents. The early manifestations were myoclonus or abnormal renal function, with great clinical heterogeneity and easy to be misdiagnosed and missed diagnosis. The final diagnosis depends on genetic testing.