| 1. |
- Autti, Taina, et al.
(författare)
-
Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation
- 1997
-
Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 12:6, s. 369-75
-
Tidskriftsartikel (refereegranskat)abstract
- Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were done on the brains of four additional adult patients. Signal intensities determined quantitatively on T2-weighted images differed significantly between patients and controls, being higher from the white matter (P < .0002) and lower from the thalami (P < .03) in the patients. The generally increased signal intensity of the white matter was most obvious in the young patients, with many focal areas of very high signal intensity in the subcortical white matter. The subcortical white matter showed a somewhat increased signal intensity even at the age of 32 years. In two of the four postmortem MR images, the distinction between the gray and white matter was still poor. At histopathologic analysis, the basic cortical cytoarchitecture was generally preserved but most neurons contained vacuoles, which were also found in the neurons of the deep gray matter. In two of the four autopsy cases the white matter showed diffuse pallor of myelin staining and some gliosis. Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.
|
|
| 2. |
|
|
| 3. |
- Autti, Taina, et al.
(författare)
-
MRI of neuronal ceroid lipofuscinosis : II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type
- 1997
-
Ingår i: Neuroradiology. - : Springer Science and Business Media LLC. - 0028-3940 .- 1432-1920. ; 39:5, s. 371-7
-
Tidskriftsartikel (refereegranskat)abstract
- 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.
|
|
| 4. |
- Autti, Taina, et al.
(författare)
-
MRI of neuronal ceroid lipofuscinosis : I. Cranial MRI of 30 patients with juvenile neuronal lipofuscinosis
- 1996
-
Ingår i: Neuroradiology. - 0028-3940 .- 1432-1920. ; 38:5, s. 476-82
-
Tidskriftsartikel (refereegranskat)abstract
- We studied 30 patients with juvenile neuronal ceroid lipofuscinosis (JNCL). The patients (aged 6-25 years) and 43 age-matched healthy volunteers underwent MRI. After visual assessment, the signal intensity was measured on T2-weighted images in numerous locations. The thickness of the cortex and corpus callosum and the dimensions of the brain stem were measured. Mild to moderate cerebral atrophy was found in 14 of 30 patients, most of them over 14 years of age; 5 older patients had mild to moderate cerebellar atrophy. There was reduction in the size of the corpus callosum and brain stem. The thalamus, caudate nucleus and putamen appeared to give low signal in patients from the ages of 7, 11 and 11 years, respectively. In contrast, the signal intensity measured from the thalamus in these patients showed only a slight (insignificant) decrease compared with controls. The most significant alteration, an increase in measured signal intensity, was found in the white matter (P < 0.0001), even in the youngest patients. The MRI findings correlated significantly with decreased intelligence, speech disturbances and motor problems. Although MRI findings in JNCL do not appear very specific and the visual changes develop relatively late, the absence of pathological MRI findings in the very early stage of the disease may play a part in differential diagnosis of the different types of NCL. Furthermore, the MRI findings may be used in assessing severity and prognosis, particularly in young patients.
|
|
| 5. |
- Vanhanen, Sanna-Leena, et al.
(författare)
-
Brain perfusion SPECT in infantile neuronal ceroid-lipofuscinosis (INCL) : Comparison with clinical manifestations and MRI findings
- 1996
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 27:2, s. 76-83
-
Tidskriftsartikel (refereegranskat)abstract
- We studied brain perfusion in 19 patients with infantile neuronal ceroid-lipofuscinosis (INCL), aged 13 months to 11 years, using 99mTc-HMPAO single photon emission computed tomography (SPECT). SPECT findings were compared with clinical manifestations and MRI findings. The typical SPECT findings at an early stage of INCL were bilateral anterior frontal, posterior temporoparietal and occipital hypoperfusion. Initially cerebral hypoperfusion was localized and symmetrical, whereas atrophic findings were more generalized. Reduction in cerebellar perfusion appeared later, as did cerebellar atrophy. Progression from mild to severe cerebral and cerebellar hypoperfusion was rapid, corresponding to the clinical progression. However, the perfusion of deep grey matter structures (basal ganglia and thalami), although atrophic on MRI, was often well preserved up to the terminal stage. Severe perfusion defects in INCL, which appeared approximately at the age of four, were associated with grave clinical manifestations and neuropathologic findings. Particularly, the early SPECT perfusion abnormalities may assist in the differential diagnosis between INCL and other neurode-generative diseases.
|
|
| 6. |
- Vanhanen, Sanna-Leena, et al.
(författare)
-
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis : Part 1: Postmortem MRI with histopathologic correlation
- 1995
-
Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:6, s. 438-43
-
Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to correlate postmortem magnetic resonance imaging (MRI) with histopathologic findings in brains of a series of autopsied patients with infantile neuronal ceroid-lipofuscinosis, a recessively inherited progressive encephalopathy. Eight formalin-fixed brains (age range at death, 7 to 13 years) were examined with MRI. One patient had also undergone brain MRI 2 years before death. Histopathologic analyses were made from standard areas selected on the basis of the MRI scans. Postmortem MRI findings did not differ significantly from the findings in the patient who was also examined during life. Typical findings were extreme cerebral atrophy and hypointensity of the gray-matter structures in relation to the white matter on T2-weighted images, a pattern the reverse of normal. Characteristic histologic findings were almost complete loss of cortical neurons and secondary loss of axons and myelin sheaths in the white matter. The drastically altered relative intensities of the gray- and white-matter structures on the MRI scans reflected replacement of the neurons with hypertrophic astrocytes and/or macrophages filled with storage material.
|
|
| 7. |
- Vanhanen, Sanna-Leena, et al.
(författare)
-
MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis : Part 2: MRI findings in 21 patients
- 1995
-
Ingår i: Journal of Child Neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:6, s. 444-50
-
Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to demonstrate the course of infantile neuronal ceroid-lipofuscinosis with brain magnetic resonance imaging (MRI) in children aged 3 months to 11 years. Twenty-one patients and 46 neurologically normal controls of the same age were examined. The images were evaluated visually; then signal intensities were measured and related to those of references. MRI abnormalities were detectable before clinical symptoms. The radiologic picture of the brain varied with the duration of the disease. Pathognomonic MRI findings in the early stage of the disease were generalized cerebral atrophy, strong thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T2-weighted images. In patients over 4 years old, cerebral atrophy was extreme, and the signal intensity of the entire white matter was higher than that of the gray matter, which is the reverse of normal. This study showed that the abnormalities seen on MRI progress rapidly during the first 4 years of life, then stabilize, in conformity with the clinical and histopathologic pictures of infantile neuronal ceroid-lipofuscinosis.
|
|
| 8. |
- Vanhanen, Sanna-Leena, et al.
(författare)
-
Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease.
- 2004
-
Ingår i: Neuropediatrics. - : Georg Thieme Verlag KG. - 0174-304X .- 1439-1899. ; 35:1, s. 27-35
-
Tidskriftsartikel (refereegranskat)abstract
- 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.
|
|
