title: A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.
abstract: We report a severe case of Dentatorubro-pallidoluysian atrophy (DRPLA) presenting with microcephaly, developmental delay, severe epilepsy, and progressive mental deterioration with a very early onset of disease. The case is notable for the early detection of white matter changes by brain MRI. Neuroradiological findings from the case were compared to those of previously reported patients with disease onset before 10 years of age.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States. nicolab@bcm.tmc.edu
authors.forename: N
authors.initials: N
authors.lastname: Brunetti-Pierri
authors.forename: A A
authors.initials: AA
authors.lastname: Wilfong
authors.forename: J V
authors.initials: JV
authors.lastname: Hunter
authors.forename: W J
authors.initials: WJ
authors.lastname: Craigen
mesh_terms: D002648:Child; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases; D008137:Longitudinal Studies; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008831:Microcephaly / Q000150:complications* / Q000473:pathology; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000473:pathology; D012196:Review Literature as Topic; D012640:Seizures / Q000209:etiology*