title: Leukoencephalopathy with bilateral anterior temporal lobe cysts: a further case of this new entity.
abstract: The introduction of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy into clinical practice has permitted advances in the definition and categorization of unknown leukodystrophies in children. We report a new type of leukodystrophy, defined by particular MRI and clinical findings, in a child with uneventful pre- and perinatal histories, spasticity, severe mental impairment with absence of language, and deafness. Brain MRI showed lobar white-matter signal abnormalities with extensive cysts in the anterior temporal lobe. The results of all metabolic screening tests, including the specific investigations for leukodystrophy, have been negative. Six years of clinical and MRI-magnetic resonance spectroscopy patient follow-up indicate a nonprogressive clinical and magnetic resonance picture. Owing to the striking similarities with the previous eight patients reported, this additional case supports the identification of a new leukodystrophy.
authors.affiliation: Division of Child Neurology and Psychiatry, Instituto Ricera Cura Carattere Scientifico, Stella Maris and University of Pisa, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Battini
authors.forename: M Cristina
authors.initials: MC
authors.lastname: Bianchi
authors.forename: Michela
authors.initials: M
authors.lastname: Tosetti
authors.forename: Andrea
authors.initials: A
authors.lastname: Guzzetta
authors.forename: Giovanni
authors.initials: G
authors.lastname: Cioni
mesh_terms: D001927:Brain Diseases / Q000150:complications*; D003560:Cysts / Q000150:complications*; D003638:Deafness / Q000209:etiology; D006801:Humans; D007223:Infant; D007806:Language Disorders / Q000209:etiology; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D001523:Mental Disorders / Q000209:etiology; D009128:Muscle Spasticity / Q000209:etiology; D013702:Temporal Lobe / Q000473:pathology*