Pallister-Mosaic syndrome and neuronal migration disorder.
We diagnosed Pallister-Mosaic syndrome (PMS) in a 4-month-old female infant. In addition to the presence of non-specific anomalies, involving anorectal, finger and ear anomalies, characteristic cranio-facial features and irregular skin lesions that appeared after age 2 months suggested the possibility of genetic mosaicism, PMS in particular. Fluorescence in situ hybridization technique revealed an extra copy of chromosome 12p; i (12p) in 30% of cultured skin fibroblasts. When focal skin lesions accompany neurodevelopmental disabilities in early infancy, genetic analysis for mosaicism should be considered for differential diagnosis. Significantly, we describe several phenotypic features and neuroimaging findings of the PMS in the present case, which have not been described in previous reports. The neuroimaging abnormalities we encountered, such as polymicrogyria, speculating congenital brain anomaly, may explain the severe motor and intellectual disabilities of PMS.
Adachi
Masao
M
Department of Pediatric Neurology, Kobe Medical Center for the Persons with Severe Motor and Intellectual Disabilities (SMID), 14-1, Nakaichiriyama, Shimo-tanigami, Yamada-cho, Kita-ku, Kobe, Hyogo 651-1102, Japan. ama-p@rc4.so-net.ne.jp
Urata
Rie
R
Takashima
Reiko
R
Miyamoto
Hajime
H
Tsuneishi
Shuichi
S
Nakamura
Hajime
H
D001931:Brain Mapping; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D004423:Ear / Q000002:abnormalities; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007223:Infant; D008279:Magnetic Resonance Imaging; D009030:Mosaicism / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D020774:Pick Disease of the Brain / Q000235:genetics* / Q000473:pathology*; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology