PubMed · 9541160
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E C Lauterbach, J M Meyer, G M Simpson. 1998. Article commended.. https://doi.org/10.4088/jcp.v59n0308d
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We present the case of a 46-year-old former U.S. Marine who developed unilateral dystonic tremor responsive to anticholinergic medications 13 years after contralateral, combat-induced head trauma. Although conventional neuroimaging techniques showed normal brain anatomy, single-proton computed tomographic scans demonstrated hypometabolism ipsilateral to the area of old trauma. Proton echoplanar spectral imaging demonstrated decreased signal in this same area on creatine imaging, which normalized on anticholinergic medication. Choline imaging on medication showed a signal void in the clinically suspected basal ganglia-thalamus region. We believe that these results indirectly suggest a trans-synaptic origin of the patient's movement disorder.
Five boys and two girls from a large consanguineous British Muslim family of Pakistani origin are described. All presented from infancy to early childhood with progressive moderate to severe developmental delay, postnatal microcephaly, spastic quadriplegia, refractory seizures, and visual handicap. Cerebrospinal fluid (CSF) pleocytosis was present in three children. Neuroimaging with computerized tomography on three boys and a girl showed generalized cortical atrophy, dilatation of the lateral, third, and fourth ventricles, widening of the surface CSF spaces, hypoplasia of the posterior fossa structures, and multiple and solitary calcifications in the cerebral cortex and punctate calcifications involving basal ganglia, cerebellum, and the Sylvian fissure. Histopathological examination of the brain from three boys and one girl confirmed generalized cortical and cerebellar atrophy with widespread calcifications within the cortical grey and white matter, the basal ganglia, the cerebellum, and in some areas along the capillaries. Investigations excluded a possible nongenetic cause. Parental consanguinity favor autosomal recessive inheritance. This appears to be a recognizable syndrome overlapping the syndrome of Aicardi and Goutières (MIM 225750).
Idiopathic cerebral calcification can be associated with a progressive neurologic disorder for which there is no known treatment. This report describes a patient with a familial form of this disorder presenting in middle age with progressive Parkinson-like features along with spasticity, dystonia, and ataxia. Disodium etidronate, a bisphosphonate, produced a two-fold improvement in the rate of his speech and gait, but did not affect his spasticity, dystonia, or ataxia. Quantitative analysis of cerebral calcification did not reveal any reduction in the amount of calcification, suggesting other possible mechanisms for this clinical improvement.