Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity.

摘要: Two sibs with an encephalopathy, including intracerebral calcification and white matter lesions, dwarfism owing to growth hormone deficiency, retinal degeneration are reported. The onset of the disease in both patients occurred retardation motor development during first year life. Later, dwarfism, mental retardation, spasticity, ataxia, became apparent. These cases probably represent some form connatal leucodystrophy. differential diagnosis is discussed.