Neurology · 2005
Cystic leukoencephalopathy without megalencephaly: a distinct disease entity in 15 children.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Henneke M, Preuss N, Engelbrecht V, Aksu F, Bertini E, Bibat G, Brockmann K, Hübner C, Mayer M, Mejaski-Bosnjak V, Naidu S, Neumaier-Probst E, Rodriguez D, Weisz W, Kohlschütter A, Gärtner J
Аннотация
OBJECTIVE: To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins.
METHODS AND RESULTS: MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected.
CONCLUSIONS: These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.
METHODS AND RESULTS: MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected.
CONCLUSIONS: These patients' clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.
Предметные рубрики MeSH
AdolescentAdultAge of OnsetBrainCentral Nervous System CystsCerebral CortexChildChild, PreschoolDevelopmental DisabilitiesDisease ProgressionEpilepsyFaceFemaleHumansIntellectual DisabilityLanguage Development DisordersMagnetic Resonance ImagingMaleNerve Fibers, MyelinatedNervous System MalformationsPhenotypeQuadriplegiaSyndromeTurkeyWhite People