Abstract
The authors report the ninth case of progressive familial encephalopathy in infancy, with calcification of the basal ganglia and chronic cerebrospinal fluid (CSF) lymphocytosis, as recently described by Aicardi and Goutieres. The encephalopathy appears during the first year of life with bilateral spasticity, continuing microcephaly, abnormal eye movements, and a rapid course toward a behavioral vegetative state. In every case, there is a mild lymphocytosis in the CSF and brain atrophy with calcification of the lenticular nuclei. No evidence of an infectious disease has been discovered. This syndrome constitutes a distinct type of leukodystrophy, transmitted as an autosomal recessive trait. Our case is a reminder that the presence of CSF lymphocytosis in infants, with encephalopathy and calcification of the lenticular nuclei, may be due to genetic degenerative encephalopathy.
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Aicardi J, Goutieres F (1984) A progressive familial encephalopathy in infancy, with calcifications of the basal ganglia, and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49–54
Egger J, Lake BD, Wilson J (1981) Mitochondrial cytopathy: a multisystem disorder with ragged red fibers on muscles biopsy. Arch Dis Child 56:741–752
Hallervorden I (1950) Über diffuse symmetrische Kalkablagerungen bei einem Krankheitsbild mit Mikrocephalie und Meningoencephalitis. Arch Psychiatr Neurol 184:579–600
Jervis GA (1954) Microcephaly with extensive calcium deposits and demyelination. J Neuropathol Exp Neurol 13:318–329
Lowenthal A, Bruyn GW (1975) Calcifications of the Striopallido-dentate system. In: Vinken PJ, Bruyn GW (eds) Diseases of the basal ganglia. (Handbook of clinical neurology, vol 6) North Holland, Amsterdam, pp 703–725
Melchior JC, Benda C, Yakovlev PI (1960) Familial idiopathic cerebral calcifications in childhood. Am J Dis Child 99:787–803
Soffer D, Grotsky HW, Rapin I, et al. (1979) Cockayne syndrome: unusual neuropathological findings and review of the literature. Ann Neurol 6:340–348
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Giroud, M., Gouyon, J.B., Chaumet, F. et al. A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Child's Nerv Syst 2, 47–48 (1986). https://doi.org/10.1007/BF00274035
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DOI: https://doi.org/10.1007/BF00274035