TY - JOUR T1 - Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly, and retinal degeneration: two sibs confirming a probably distinct entity. JF - Journal of Medical Genetics JO - J Med Genet SP - 708 LP - 711 DO - 10.1136/jmg.28.10.708 VL - 28 IS - 10 AU - C G Bönnemann AU - P Meinecke AU - H Reich Y1 - 1991/10/01 UR - http://jmg.bmj.com/content/28/10/708.abstract N2 - 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. ER -