1/2. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.Two sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, and retinal degeneration are reported. The onset of the disease in both patients occurred with retardation of motor development during the first year of life. Later, dwarfism, mental retardation, spasticity, ataxia, and retinal degeneration became apparent. These cases probably represent some form of connatal leucodystrophy. The differential diagnosis is discussed.- - - - - - - - - - ranking = 1keywords = retinal degeneration, degeneration (Clic here for more details about this article) |
2/2. Russell-silver dwarfism.A case of Russell-silver dwarfism is described with intrauterine dwarfism, craniofacial disproportion, congenital asymmetry of the body, triangular face, retro- and micrognathia and short incurved fifth fingers. This child has numerous ocular abnormalities including microphthalmia, tunica vasculosa lentis, chronic angle closure glaucoma and retinal degeneration with detachment. The glaucoma was controlled with miotic therapy following an iridectomy.- - - - - - - - - - ranking = 0.16666666666667keywords = retinal degeneration, degeneration (Clic here for more details about this article) |