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

Authors
Journal
Journal of Medical Genetics
0022-2593
Publisher
BMJ
Publication Date
Keywords
  • Research Article
Disciplines
  • Medicine

Abstract

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. Images

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