Symmetrical infantile thalamic degeneration in two sibs

Abstract

SUMMARY This is the first observation of two cases of symmetrical infantile thalamic degeneration with cell mineralisation in a family. Although it cannot be established at present, autosomal recessive inheritance of a metabolic error causing or predisposing to damage to specific areas of the central nervous system is a possible aetiology for this condition.

Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins

“…Axonal spheroids have been described [Wilson et al, 1982;Jennekens et al, 19841. In most cases the brain stem is involved as well, in particular the brain stem tegmentum [Norman, 1972;Wilson et al, 1982;Jennekens et al, 1984;Roland et al, 1988;Eicke et al, 19921. In some cases similar changes are seen in the striatum [Abuelo et al, 1981;Roland et al, 19801 and the hippocampus [Norman, 1972;Wilson et al, 1982;Roland et al, 19881. Lu( a -) lum, but no or a minimal amount of myelin in the posterior limb of the internal capsule, corona radiata, and radiatio optica, whereas advanced myelination of these structures would be appropriate for the age of 3 months. Within the thalami areas of high and low signal intensity were seen on T,-weighted images (Fig.…”

“…Neuroimaging findings are uniform and consist of symmetrical thalamic calcifications on CT scan [Parisi et al, 1983;DiMario and Clancy, 1989;Eicke et al, 19921. In exceptional cases thalami are normal or hypodense, despite mineralized neuronal necrosis found at autopsy [Abuelo et al, 1981;Wilson et al, 19821. CT usually shows no other morphological abnormalities; occasionally, additional hypodense areas in the white matter are reported [Eicke et al, 19921.…”

“…Beginning in 1962, several reports were published on symmetrical thalamic calcifications in infants [Rosales and Riggs, 1962;Norman, 1972;Ambler and O'Neil, 1975;Abuelo et al, 1981;Wilson et al, 1982;Parisi et al, 1983;Jennekens et al, 1984;Roland et al, 1988;DiMario and Clancy, 1989;Eicke et al, 19921. The clinical picture in these infants is uniform and characterized by absence of primitive reflexes, including absence of sucking and swallowing reflexes causing severe feeding problems, and, in addition, spasticity, decreased spontaneous activity, absence of psychomotor development, and early death.…”

“…The cause of this condition has been a matter of debate. Hypoxia-ischemia [Norman, 1972;Wilson et al, 1982;Parisi et al, 1983;Roland et al, 1988;DiMario and Clancy, 1989;Eicke et al, 19921, congenital infections [Ambler and O'Neil, 19751, toxic events [Ambler and @Neil, 1975;Jennekens et al, 19841, and inherited degenerative disorders [Abuelo et al, 1981;Jennekens et al, 19841 have been proposed. We observed symmetrical thalamic calcifications in one sib of monozygous (MZ) twins.…”

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.…”