| 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. |
- FALCK, G, et al.
(författare)
-
Brain weight and sudden infant death syndrome
- 1995
-
Ingår i: Journal of child neurology. - : SAGE Publications. - 0883-0738 .- 1708-8283. ; 10:2, s. 123-126
-
Tidskriftsartikel (refereegranskat)abstract
- Increased brain weights have been reported in the literature to occur among infants who have died from sudden infant death syndrome, suggesting that cerebral edema might play a role in the cause of death among these children. We have compared brain weights from children between the ages of 1 week and 1 year, autopsied between 1980 and 1992. One group consisted of 125 victims of sudden infant death syndrome and the other of 38 children who had died with a diagnosis other than the sudden infant death syndrome. Brain weights from both groups exceeded the 50th percentile in previously published reference material. We were unable to show any significant differences between the groups in either the ratio between observed and expected brain weights or the ratio between brain weight and body weight. We conclude that there is no evidence for the notion that victims of sudden infant death syndrome have an increased brain weight. Other authors (in previous studies) may have overlooked the low overall weight at gestational age of prematurely born children while collecting data for reference levels. A revision of the figures seems to be necessary. (J Child Neurol 1995;10:123-126).
|
|
| 4. |
- Vanhala, Raija, et al.
(författare)
-
Neurotrophic factors in cerebrospinal fluid and serum of patients with Rett syndrome
- 1998
-
Ingår i: Journal of Child Neurology. - Univ Helsinki, Hosp Children & Adolescents, Unit Child Neurol, Helsinki, Finland. Uppsala Univ, Ctr Biomed, Dept Dev Neurosci, Uppsala, Sweden. Univ Helsinki, Inst Biotechnol, Helsinki, Finland. Univ Kuopio, Childrens Hosp, Dept Child Neurol, FIN-70211 Kuopio, Finland. : Sage Publications. - 0883-0738 .- 1708-8283. ; 13:9, s. 429-433
-
Tidskriftsartikel (refereegranskat)abstract
- Rett syndrome is now considered to be a neurodevelopmental disease. Its cause is unknown, but it has been suggested that neuronal growth factors and neurotransmitters play important roles. We measured levels of brain-derived neurotropic factor and glial cell line-derived neurotrophic factor in cerebrospinal fluid, and nerve growth factor and brain-derived neurotrophic factor in serum in child and adolescent patients with Rett syndrome. Levels of brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor in cerebrospinal fluid were below the limit of sensitivity of the methods used. Serum levels of nerve growth factor and brain-derived neurotrophic factor did not differ from control values. In Rett syndrome, the normal serum levels of nerve growth factor together and previously reported low levels of the factor in cerebrospinal fluid indicate that the latter may reflect low levels of nerve growth factor in the central nervous system.
|
|
| 5. |
- 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.
|
|
| 6. |
- 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.
|
|
