Postmortem MRI was carried out on the formalin-fixed brains of 14 patients with juvenile (JNCL) and two with late infantile neuronal ceroid lipofuscinosis, one of variant and the other of classical type. Two patients with JNCL had also undergone MRI during life. After MRI, specimens for histopathological analysis were taken from standard areas of the cerebral cortex, deep nuclei and white matter. The signal intensity of the periventricular white matter was usually higher than that of the peripheral white matter, a finding which correlated with the severe periventricular loss of myelin and gliosis observed histologically. The signal intensity was usually lower in the thalamus than in the putamen; in some patients the signal intensity of the thalamus was equal to or even lower than that of the white matter. However, myelin loss, gliosis, the storage process or neuronal loss in the thalamus did not correlate with the MRI findings. Since in one patient with JNCL the ante- and postmortem MRI did not differ basically, it appears probable that the periventricular changes detected in vivo on MRI are due to the severe loss of myelin and gliosis observed in this study. However, changes resulting from the fixation process must be considered, when postmortem and in vivo MRI are correlated.
Our purpose was to develop a method of measuring the size of the brain stem by routine MRI and to determine brain stem dimensions in a normal population. We examined 174 subjects, aged 4 months to 86 years, with no known brain disease. Sagittal midline diameters of the mesencephalon, pons and medulla oblongata were measured on sagittal T1-weighted images, coronal diameters from axial T2-weighted images. The adult midsagittal diameter of the mesencephalon was reached at the age of 6 years, and decreased slightly after 45-50 years. Pontine dimensions increased until the age of 20 years and did not subsequently decrease. The midsagittal and midcoronal diameters of the medulla oblongata stopped increasing at the ages of 6 and 8 years, respectively. Minimal reduction in the midsagittal diameter occurs after 50 years. Normal ranges for each dimension were recorded. Knowledge of the normal variation in size of the brain stem can be helpful in the investigation of neurodegenerative diseases. The method described is rapid and needs no additional hard- or software. An additional finding was an increase in large vermian sulci in subjects over 50 years of age.
Infantile neuronal ceroid-lipofuscinosis (infantile CLN1) is a progressive and uniformly fatal lysosomal storage disease of the nervous system. The purpose of this study was to compare the findings of various radiological examinations of the brain in the course of infantile CLN1 in order to evaluate the relative usefulness of the methods and their potential for monitoring therapeutic interventions. We examined eight infantile CLN1 patients, 51 studies, in various stages of the disease--preclinical to late stage--with proton magnetic resonance spectroscopy (1H-MRS), MRI, and perfusion SPECT, and in addition three benzodiazepine (BZ) receptor ligand SPECT studies. Both 1H-MRS and MRI showed abnormal findings before clinical manifestations of the disease. Cortical hypoperfusion and loss of cortical BZ receptors revealed by SPECT appeared simultaneously with clinical signs. After the age of 4 years MRI and SPECT alterations progressed minimally, whereas 1H-MRS showed progressive deterioration of neurometabolism. Of the four methods used in this study, MRI proved to be the most practicable for diagnosing infantile CLN1; the final diagnosis of infantile CLN1 is confirmed by the characteristic clinical picture and DNA or PPT enzyme analysis. The combination of 1H- MRS and MRI could be most useful for monitoring therapeutic interventions.
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