Symmetrical infantile thalamic degeneration with focal cytoplasmic calcification

Abstract

Infantile thalamic degeneration is a rare clinico-pathological entity. Restricted location of the lesion and peculiar cytopathological changes serve to distinguish this disorder from other common encephalopathies. Optical and ultrastructural studies demonstrate cytoplasmic calcopherules in previously viable cells. According to current concepts of acute cellular reactions to injury and mechanism of intracellular calcification, the cytological changes cannot be attributed to either hypoxic ischemic cell change or dystrophic calcification. By analogy to other human and pathological material, the most likely basis for nondystrophic calcopherule formation is toxic or infectious injury with local synthesis, or autophagic or phagolysosomal degradation of cellular debris of specific chemical composition favoring calcium deposition.

Symmetrical thalamic lesions in infants.

“…' In the subsequent 28 years only 14 additional cases have been reported. [2][3][4][5][6][7][8][9] Six cases of STL were seen at our hospital between 1982 and 1991. We would like to draw attention to this condition with particular emphasis on neonatal clinical presentation and findings on imaging.…”

Symmetrical infantile thalamic degeneration in two sibs

“…Birth injury and toxic or infectious agents are speculative causes.' 2 The disorder, which is associated with severe neurological impairment and early death, occurs sporadically and has not been reported to have an appreciable risk of recurrence for the parents of an affected infant.…”

“…A more detailed pathological description can be found in the publication of Ambler and O'Neil. 2 The family was told that the condition was not known to be a genetic one, and was not likely to recur. They subsequently had two normal boys.…”