1/6. Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.We report a 2-year-old boy with ethylmalonic aciduria and vasculopathy syndrome evaluated by 18fluoro-2-deoxyglucose positron emission tomographic (18FDG PET) brain scan, with intense uptake of 18FDG in the caudate nucleus and putamen bilaterally but with no morphological changes on magnetic resonance imaging (MRI). A repeat 18FDG PET brain scan 1 year later showed a significant bilateral decreased uptake of glucose in the putamen and the head of the caudate nucleus as well as a decreased uptake in the frontal lobes. On MRI, there was atrophy and watershed infarcts in the basal ganglia, explaining the loss of glucose uptake. These results reflect a selective vulnerability of the basal ganglia, their functional derangement, and ultimate degeneration.- - - - - - - - - - ranking = 1keywords = nucleus (Clic here for more details about this article) |
2/6. A case of hereditary ceruloplasmin deficiency with iron deposition in the brain associated with chorea, dementia, diabetes mellitus and retinal pigmentation: administration of fresh-frozen human plasma.We report a familial case of hereditary ceruloplasmin deficiency (HCD) showing an A-G transition in intron 6 of the ceruloplasmin gene. Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs. The patient's children and siblings had similar laboratory results, but did not show any neurological abnormalities. She was medicated for diabetes mellitus at 43 years of age, and neurological signs appeared when she was 52 years old. The laboratory findings were anemia, low concentrations of iron and copper in serum and of copper in urine. ceruloplasmin was not detected in the serum. The iron and copper contents in the liver were 3,580 and 10 microg/g wet tissue, respectively. MRI of the brain showed iron deposition in the basal ganglia, dentate nucleus and thalamus. This case did not show any abnormal increase in copper in the blood and urine following CuSO(4)5H(2)O oral overloading test. Following the intravenous administration of commercially available fresh-frozen human plasma (FFP) containing ceruloplasmin, the serum iron content increased for several hours due to ferroxidase activity of ceruloplasmin. In the liver, the iron content decreased more with the combined intravenous administration of FFP and deferoxamine than with FFP administration alone. Her neurological symptoms improved following repetitive FFP treatment.- - - - - - - - - - ranking = 0.5keywords = nucleus (Clic here for more details about this article) |
3/6. Glutaric aciduria type I diagnosed after poliovirus immunization: magnetic resonance findings.Glutaric aciduria type I is an uncommon inborn error of metabolism. It is a serious disease, often with a fatal outcome. magnetic resonance imaging findings and the clinical course of monozygotic twin females with glutaric aciduria type I who were admitted with acute encephalopathic crisis symptoms 3 days after immunization for poliovirus are presented in this report. magnetic resonance imaging findings revealed hyperintensity in the putamen, head of the left caudate nucleus, and globus pallidus, periventricular white matter (on T(2)-weighted images), arachnoid cysts in bilateral temporal regions, and enlargement of the sylvian fissures. Glutaric aciduria type I should be included in the differential diagnosis of patients with acute encephalopathic crisis occurring shortly after poliovirus immunization. Typical magnetic resonance findings guide urinary organic acid analysis in these patients.- - - - - - - - - - ranking = 0.5keywords = nucleus (Clic here for more details about this article) |
4/6. CT and MR of the brain in glutaric acidemia type I: a review of 59 published cases and a report of 5 new patients.PURPOSE: To identify a pattern of findings on CT or MR of the brain in glutaric acidemia type I typical enough to permit a correct diagnosis. methods: Clinical history and findings and brain CT and MR results in 59 previously reported patients (MR in 12) and in 5 new patients (all examined with MR and 3 also with CT) were reviewed. RESULTS: In half the patients macrocephaly was present, and in half the onset was acute, often following infection and mimicking encephalitis. Although brain atrophy or hypoplasia was found in 61% and white matter changes in 51% of the patients, open opercula (usually very widely open) and often also wide cerebrospinal fluid spaces anterior to the temporal lobes were seen in 93%. basal ganglia lesions, presenting as volume loss and high T2 signal in the caudate head and often also the lentiform nucleus bilaterally, were found in 44% and extracerebral fluid collections in 7 of 64 patients. CONCLUSION: The finding of very widely open opercula suggests glutaric acidemia type I, and if combined with basal ganglia lesions is almost pathognomonic, especially in a child with macrocephaly.- - - - - - - - - - ranking = 0.5keywords = nucleus (Clic here for more details about this article) |
5/6. A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.Heat shock protein 60 (hsp60) is a mitochondrial matrix protein involved in the folding and correct assembly of polypeptides into complex mitochondrial enzymes. Its deficiency has recently been described as the most likely primary cause of congenital lactic acidaemia with multiple mitochondrial enzyme deficiencies in a female patient. We describe a new case of a girl with a substantially decreased amount of hsp60 in cultured fibroblasts. She presented from birth with hypotonia, unusual facial features, feeding difficulties and failure to thrive. death occurred at age 4.5 years. Biochemical findings included metabolic acidosis with lactic acidaemia, hyperammonaemia and intermittent ketosis. In contrast to the previously reported case, organic acid analysis showed an altered profile throughout her life. In agreement with this profile, various mitochondrial enzyme activities were deficient in cultured fibroblasts, including enzymes of the respiratory chain and the Krebs cycle, the pyruvate dehydrogenase complex and the mitochondrial biotindependent carboxylases. Fibroblast mitochondria showed ultrastructural abnormalities, were swollen, and were mainly localized around the nucleus. The description of a second case of multiple mitochondrial enzyme deficiencies with reduced amount of hsp60 supports the idea that hsp60 deficiency might be a more common cause of mitochondrial disease. This opens new possibilities for the diagnosis and understanding of congenital lactic acidaemia.- - - - - - - - - - ranking = 0.5keywords = nucleus (Clic here for more details about this article) |
6/6. L-2-hydroxyglutaric aciduria: clinical heterogeneity versus biochemical homogeneity in a sibship.Three out of four sibs in a North-African family were affected with L-2-hydroxyglutaric aciduria. The youngest sib was most severely handicapped: she was diagnosed at 2.5 years of age, whereas the then 7- and 10-year-old siblings had a less pronounced psychomotor retardation. All patients had an increased head circumference in contrast to the healthy, non-affected sibling. urine and plasma levels of L-2-hydroxyglutaric acid in the three sibs were similar and showed only a small variation. magnetic resonance imaging (MRI) of the brain in the eldest sib showed hyperintense signal on T2-weighted images of the basal ganglia, dentate nucleus and subcortical white matter. The youngest sib showed identical white matter abnormalities of the corpus medullare cerebelli. These abnormalities were consistent with demyelination and/or spongiosis. On two occasions cerebrospinal fluid amino acid chromatography in the youngest sib showed an increased concentration of lysine and a decreased level of glutamine. plasma lysine was normal. It is concluded that L-2-hydroxyglutaric aciduria is almost invariably associated with neurological disease; the severity of the symptoms does not seem to be completely dependent on the extent of the biochemical abnormalities and may even be variable within a family.- - - - - - - - - - ranking = 0.5keywords = nucleus (Clic here for more details about this article) |