Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.

摘要: A 10-year-old boy presented with a severe and diffuse mosaic skin hypopigmentation running (in narrow bands) along the lines of Blaschko associated areas alopecia, facial dysmorphism midface hypoplasia, bilateral punctate cataract, microretrognathia, short neck, pectus excavatum, joint hypermobility, mild muscular hypotonia, generalized seizures, mental retardation. Cranial magnetic resonance imaging revealed hypoplastic corpus callosum (primarily posterior), subcortical band heterotopia, subcortical, periventricular cystic-like lesions. Similar dysmorphic features were observed in child's mother, but no abnormalities. The phenotype coupled cysts brain was strongly reminiscent oculocerebrorenal Lowe syndrome. Full chromosome studies parents proband mutation analysis on peripheral blood lymphocytes (and cultured fibroblasts from affected unaffected child) genes for heterotopia (DCX (Xq22.3∼q23)], lissencephaly (PAFAH1B1, alias LIS1, at 17p13.3), syndrome (OCRL Xq23∼q24)] unrevealing. This constellation multiple congenital anomalies including eye, musculoskeletal, nervous system abnormalities sufficiently characterized to be regarded as novel example pigmentary mosaicism Ito type (i.e., hypomelanosis Ito).