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1/3. Crossed cerebellar glucose hypermetabolism demonstrated using PET in symptomatic epilepsy--case report.

    A 65-year-old male with an old cerebral contusion in the frontal lobes had suffered from status complex partial seizures. Ictal positron emission tomography with an F-18 fluorodeoxyglucose ([18F]FDG-PET) scan revealed hypermetabolism in the frontal, temporal and parietal lobes and the contralateral cerebellar hemisphere. The patient underwent a next-day PET scan with the 15O-labeled gas inhalation technique, which showed mild hyperperfusion and oxygen hypermetabolism in these areas. An interictal [18F]FDG-PET scan 17 days after the initial epilepsy demonstrated glucose hypometabolism of the frontal, temporal and parietal lobes and the contralateral cerebellar hemisphere. Increased glucose metabolism on the interictal PET scan and decreased glucose metabolism on an interictal PET scan in the epileptogenic supratentorial zones and the contralateral cerebellar hemisphere are interesting observations for understanding the pathophysiology in long-standing partial seizures. ( info)

2/3. nephrocalcinosis in glucose-galactose malabsorption, association with renal tubular acidosis.

    We report an association of renal tubular acidosis (RTA) in two children with glucose-galactose malabsorption (GGM), who were found to have nephrocalcinosis. Although GGM has been reported previously with nephrocalcinosis, this report is the first to show that renal tubular acidosis could explain the coexistence of nephrocalcinosis in patients with glucose galactose malabsorption. ( info)

3/3. Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation.

    Since the introduction of neonatal screening for branched-chain organic acidurias, it has been noted that isolated 3-methylcrotonyl-CoA carboxylase deficiency is probably one of the most frequent organic acidurias. Only a few cases with severe clinical presentation have been described. Profound hypoglycaemia is an uncommon but life-threatening complication. ( info)

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