Bönnemann C G, Meinecke P, Reich H
Altonaer Kinderkrankenhaus, Hamburg, Germany.
J Med Genet. 1991 Oct;28(10):708-11. doi: 10.1136/jmg.28.10.708.
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.
报告了两名患有脑病的同胞，其症状包括脑内钙化和白质病变、因生长激素缺乏导致的侏儒症以及视网膜变性。两名患者的疾病均在出生后第一年出现运动发育迟缓。随后，侏儒症、智力发育迟缓、痉挛、共济失调和视网膜变性变得明显。这些病例可能代表某种形式的先天性脑白质营养不良。文中讨论了鉴别诊断。
