A Progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis

Abstract

Eight infants developed a progressive disorder of the CNS with bilateral spasticity and dystonia, acquired microcephaly and a rapid course toward profound deterioration and death. All the patients had abnormal CSF with mild but persistent lymphocytosis. Computed tomography showed various combinations of bilateral symmetrical calcifications in the basal ganglia, progressive brain atrophy and deep white matter hypodensities. The first 2 being present in all families but not in every individual patient. The disorder is familial and probably genetic in origin, although some features, especially the pleocytosis, may erroneously suggest an inflammatory condition.