Presenile cataract: consider cholestanol.
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Adult↗
Biomedical subjects
Zoltán Pfund
Publications and source records attributed to Zoltán Pfund.
Quantitative analysis of gray- and white-matter volumes and glucose metabolism in Sturge-Weber syndrome.
The progressive nature of Sturge-Weber syndrome is well known, but the mechanisms of focal cortical and subcortical degeneration in this disorder are poorly understood. In the present study, we assessed the structural and functional integrity of gray and white matter in unihemispheric Sturge-Weber syndrome using quantitative magnetic resonance imaging (MRI) volumetry and MRI-based partial volume correction of [18F]fluorodeoxyglucose positron emission tomographic (PET) images. Gray- and white-matter volumes and glucose metabolism were measured in three brain regions (parieto-occipital underneath the angioma, temporal, and frontal) in six children with Sturge-Weber syndrome (two infants, ages 6 and 9 months; four older children, ages 4 to 14 years), all with unilateral parieto-occipital leptomeningeal angiomatosis. The gray-matter volumes ipsilateral to the angioma were smaller in all children, with the posterior regions underneath the angioma the most affected. In the infants, the white-matter volumes were increased in the region of the angioma, whereas in the regions remote from the angioma in the infants and in all regions of the older children, there were large decreases in white-matter volume. The decreases of frontal and temporal white-matter volume were more pronounced than the corresponding gray-matter volume decreases. The PET studies showed severe hypometabolism in the parieto-occipitalregion underneath the angioma in all of the children. However, the two infants showed glucose hypermetabolism in the frontal and temporal cortical gray matter, whereas these regions had relatively preserved metabolism in the older patients. These results demonstrate differential involvement of gray and white matter in Sturge-Weber syndrome. Both structural and functional abnormalities extend well beyond the angioma, indicating widespread abnormalities of growth and development of the affected hemisphere. Furthermore, whereas increased white-matter volume underlying the angioma may be seen in infants, ipsilateral white-matter regions outside the angioma show volume loss both in infants and in older patients. Extensive gray- and white-matter volume loss and hypometabolism ipsilateral to the angioma likely contribute to the frequently observed progressive cognitive dysfunction in these patients, regardless of the extent of the angioma.
Adolescent↗
Altered regional brain glucose metabolism in Duchenne muscular dystrophy: a pet study.
The basis for cognitive impairment in Duchenne muscular dystrophy (DMD) is not well understood but may be related to abnormal expression of dystrophin in brain. The aim of this study was to determine whether regional brain glucose metabolism is altered in children with DMD and whether such metabolic disturbances are localized to regions shown to be normally rich in dystrophin expression. Ten boys (mean age, 11.8 years) with DMD and 17 normal adults as a control group (mean age, 27.6 years) underwent 2-deoxy-2[(18)F]fluoro-D-glucose positron emission tomography (PET) and neuropsychological evaluation. The PET data were analyzed by statistical parametric mapping (SPM). The SPM analysis showed five clusters of decreased glucose metabolism in children with DMD, including the medial temporal structures and cerebellum bilaterally and the sensorimotor and lateral temporal cortex on the right side. At the voxel level, significant glucose hypometabolism was found in the right postcentral and middle temporal gyri, uncus, and VIIIB cerebellar lobule, as well as in the left hippocampal gyrus and cerebellar lobule. The neuropsychological profile of the DMD group revealed borderline nonverbal intellectual functioning, impaired manual dexterity bilaterally, borderline cognitive functioning, and internalizing behavioral difficulties. Our findings demonstrate region-specific hypometabolism, as well as cognitive and behavioral deficits in DMD children. As the regions showing hypometabolism on PET include those normally rich in dystrophin expression, it will be important to determine whether the hypometabolic regions also show cytoarchitectural abnormalities related to the lack of dystrophin.
Adolescent↗
Oral magnesium load test in patients with migraine.
OBJECTIVE: To determine whether migraineurs may have a systemic deficiency of magnesium. BACKGROUND: Magnesium deficiency has been shown to play a potential role in the pathogenesis of migraine, but there are no data on total body magnesium status in migraineurs. METHODS: An oral magnesium load test was performed by giving 3000 mg of magnesium lactate during a 24-hour interictal period to 20 patients with migraine (15 women and 5 men; mean age, 37.9 years) and 20 healthy volunteers (16 women and 4 men; mean age, 39.6 years). Baseline and postload magnesium concentrations were determined from serum and 24-hour urine specimens. RESULTS: There was no significant difference between the groups in the baseline serum and urine magnesium concentrations, although the latter tended to be lower (P = .064) in the migraine group. The postload magnesium concentrations were significantly higher within both the migraine (P < .0001 and P < .0001) and the control (P = .0009 and P < .0001) groups compared to the baseline values. After loading, the 24-hour urinary magnesium excretions were significantly lower (P = .0007) in the patients with migraine than in the controls, but serum values did not differ. CONCLUSIONS: Magnesium retention occurs in patients with migraine after oral loading, suggesting a systemic magnesium deficiency.
Administration, Oral↗
Alpha[11C] methyl-L-typtophan positron emission tomography in patients with alternating hemiplegia of childhood.
Based on previous reports suggesting a role of the neurotransmitter serotonin in the pathomechanism of alternating hemiplegia of childhood and speculation that it may be a migraine variant, we measured brain serotonin synthesis in children with alternating hemiplegia of childhood. Clinical and neurodevelopmental data, as well as standard uptake values in 25 brain regions and whole-brain serotonin synthesis capacity (unidirectional uptake rate constant or K-complex), were assessed in six patients with alternating hemiplegia of childhood (three girls and three boys; mean age = 7 6/12 years) using alpha[11C]methyl-L-tryptophan positron emission tomography (PET). The PET studies were performed interictally in three patients, during the ictal state in two patients, and postictally in one patient. The PET data were compared to those obtained interictally from six age-matched patients with focal epilepsy (two girls and four boys; mean age = 7 8/12 years) and six non-age-matched apparently normal siblings of autistic children (two girls and four boys; mean age = 9 11/12 years). Patients with alternating hemiplegia of childhood studied in the ictal or postictal state showed increased serotonin synthesis capacity in the frontoparietal cortex, lateral and medial temporal structures, striatum, and thalamus when compared to controls, and subjects with alternating hemiplegia of childhood studied interictally. The involvement of these brain regions was consistent with the semiology of the hemiplegic attacks. In patients with interictal studies and in the controls, the PET scans revealed similar and bilaterally symmetric regional patterns of serotonin synthesis capacity. Increased whole-brain serotonin synthesis capacity (reported in migraine subjects without aura) was not found in the alternating hemiplegia of childhood group. There was no correlation between the neurodevelopmental scores and regional standard uptake values; however, patients with a larger estimated lifetime attack number showed greater delay in communication (P = .005) and daily living skills (P = .042). These studies suggest increased regional serotonergic activity associated with attacks in alternating hemiplegia of childhood. Furthermore, the attack number may have an effect on neurodevelopmental delay, thus supporting the notion that alternating hemiplegia of childhood may be a progressive disorder.
Adolescent↗
Spontaneous long-term remission of intractable partial epilepsy in childhood.
Drug-resistant partial epilepsy in children often has a major impact on cognitive development, and early surgical intervention has been advocated to prevent adverse neurobehavioral effects of seizures in such patients. We report a 5-year-old boy who had cryptogenic partial epilepsy of right parietal origin as documented by ictal electroencephalogram (EEG) and glucose metabolism positron emission tomographic (PET) scan. His atonic seizures could not be controlled by multiple antiepilepsy drugs; therefore, cortical resection was scheduled. However, his seizures remitted spontaneously after 1 year of failed medical treatment. The epileptiform abnormality disappeared on the follow-up EEGs, and a glucose PET scan also normalized. This boy has fully retained his cognitive and motor functions and has remained seizure free in the past 4z\x years off medications.
Child, Preschool↗