title: Progressive leukoencephalopathy with intracranial calcification, congenital deafness, and developmental deterioration.
abstract: We report on a 12-year-old male with a unique cerebral white matter disease. His initial symptoms were congenital hearing loss and multiple intracranial calcifications on head CT. He developed severe intellectual disability and epilepsy. MRI showed signal abnormalities in the posterior limbs of the internal capsules, thalami, and cerebral white matter. The abnormalities were progressive over time. The neuropathology revealed diffuse and severe disruption of myelin and axons of the cerebral white matter and cerebrospinal tracts. We performed various metabolic examinations, detailed pathological investigations and genetic analyses, but could not identify the cause. To our knowledge his clinical course has not been described in the literature.
authors.affiliation: Department of Pediatrics, Medical Center for Children, Osaka City General Hospital, Osaka, Japan.
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kuki
authors.forename: Hisashi
authors.initials: H
authors.lastname: Kawawaki
authors.forename: Shin
authors.initials: S
authors.lastname: Okazaki
authors.forename: Shihoko
authors.initials: S
authors.lastname: Kimura-Ohba
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Nakano
authors.forename: Hiroko
authors.initials: H
authors.lastname: Fukushima
authors.forename: Takeshi
authors.initials: T
authors.lastname: Inoue
authors.forename: Kiyotaka
authors.initials: K
authors.lastname: Tomiwa
authors.forename: Masayuki
authors.initials: M
authors.lastname: Itoh
mesh_terms: D001921:Brain / Q000473:pathology; D002114:Calcinosis / Q000473:pathology; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology*; D017809:Fatal Outcome; D034381:Hearing Loss / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D056784:Leukoencephalopathies / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009186:Myelin Sheath / Q000473:pathology; D014057:Tomography, X-Ray Computed