title: A case of early myoclonic encephalopathy with the congenital nephrotic syndrome.
abstract: We describe a male infant with early myoclonic encephalopathy (EME) associated with the congenital nephrotic syndrome, microcephaly, multiple minor anomalies, and cerebellar hypoplasia. He had erratic and massive myoclonus, and partial seizures from the neonatal period. Electroencephalography showed the so-called suppression-burst pattern. He died of disseminated intravascular coagulation caused by the congenital nephrotic syndrome at the age of two months. Our patients is the first reported case with EME associated with the congenital nephrotic syndrome.
authors.affiliation: Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Nishikawa
authors.forename: T
authors.initials: T
authors.lastname: Ichiyama
authors.forename: T
authors.initials: T
authors.lastname: Hayashi
authors.forename: S
authors.initials: S
authors.lastname: Furukawa
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001921:Brain / Q000000981:diagnostic imaging; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000000981:diagnostic imaging; D009404:Nephrotic Syndrome / Q000150:complications* / Q000151:congenital / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed