RT Journal Article
SR Electronic
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
FD BMJ Publishing Group Ltd
SP 708
OP 711
DO 10.1136/jmg.28.10.708
VO 28
IS 10
A1 C G Bönnemann
A1 P Meinecke
A1 H Reich
YR 1991
UL http://jmg.bmj.com/content/28/10/708.abstract
AB 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.