Summary
A neonate with a rapidly fatal disease characterized by connatal hypertonia and arthrogryposis multiplex is described. Neuropathological investigations revealed bilateral thalamus and brain stem degeneration, axonal degeneration of pyramidal and other tracts in the spinal cord, and axonal spheroids in areas of origin of lower motor neurons and in the brain stem reticular substance. Congenital thalamic and brain stem degeneration is generally assumed to be the result of intrauterine asphyxia. The widespread occurence of axonal spheroids in the present neonate points to the possibility of a genetic or toxic origin for at least some of these cases.
References
Abuelo DN, Barsel-Bowers G, Tutschka G, Ambler M, Singer DB (1981) Symmetrical infantile thalamic degeneration in two sibs. J. Med Genet 18:448–450
Ambler M, O'Neil W (1975) Symmetrical infantile thalamic degeneration with focal cytoplasmic calcification. Acta Neuropathol (Berl) 33:1–7
Brown JK, Purvis RJ, Forfar J, Cockburn F (1974) Neurological aspects of perinatal asphyxia. Dev Med Child Neurol 16:567–580
Carpenter S (1968) Proximal enlargement in motor neuron disease. Neurology (Minneap) 18:841–851
Chou SM, Hartmann HA (1964) Axonal lesions and Waltzing syndrome after IDPN administration in rats. Acta Neuropathol (Berl) 3:428–450
Cork LC, Griffin JW, Munnell JF, Lorenz MD, Adams RJ, Price DL (1979) Hereditary canine spinal muscular atrophy. J Neuropathol Exp Neurol 38:209–221
Gilles FH, Nag D (1971) Vulnerability of human spinal cord in transient cardiac arrest. Neurology (Minneap) 21:833–839
Goertchen R, Senitz D (1983) Zur Neuropathologie des Rückenmarks unter dem Aspekt des perinatalen Hypoxie-Komplexes. Dtsch Gesundh-Wesen 38:653–656
Griffin JW, Hoffman PN, Clark AW, Carroll PT, Price DL (1978) Slow axonal transport of neurofilament proteins: Impairment by β-β'-iminodipropionitrile administration. Science 202:633–635
Hirano A, Iwata M (1979) Pathology of motor neurons with special reference to amyotrophic lateral sclerosis and related diseases. In: Tsubaki T, Toyokura Y (eds) Amyotrophic lateral sclerosis. University Park Press, Baltimore, pp 107–133
Norman MGIV (1972) Antenatal neuronal loss and gliosis of the reticular formation, thalamus and hypothalamus: A report of three cases. Neurology 22:910–916
Parisi JE, Collins GH, Kim RC, Crosley CJ (1982) Prenatal symmetrical thalamic degeneration with flexion spasticity at birth. Ann Neurol 13:94–97
Seitelberger F, Jellinger K (1977) Neuroaxonal dystrophy and Hallervorden-Spatz disease. In: Goldensohn ES, Appel SH (eds) Scientific approaches to clinical neurology. Lea & Febiger, Philadelphia, pp 1052–1072
Wilson ER, Mirra SS, Schwartz JF (1982) Congenital diencephalic and brain stem damage: neuropathologic study of three cases. Acta Neuropathol (Berl) 57:70–74
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Jennekens, F.G.I., Barth, P.G., Fleury, P. et al. Axonal dystrophy in a case of connatal thalamic and brain stem degeneration. Acta Neuropathol 64, 68–71 (1984). https://doi.org/10.1007/BF00695608
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00695608