We performed 99Tcm-ethyl cysteinate dimer (ECD) interictal single photon emission tomography (SPET) in 26 children with severe therapy-resistant epilepsy. All the children underwent a detailed clinical examination, an electroencephalogram (EEG) investigation and brain magnetic resonance imaging (MRI). In 21 of the 26 children, SPET demonstrated brain blood flow abnormalities, in 13 cases in the same territories that showed EEG alterations. MRI showed structural lesions in 6 of the 26 children, while SPET imaging confirmed these abnormalities in only 5 children. The lesion not detected on SPET was shown to be 3 mm thick on MRI. Five symptomatic patients had normal SPET. In one of these patients, the EEG findings were normal and MRI revealed a small calcific nodule (4 mm thick); in the others, the EEG showed non-focal but diffuse abnormalities. These data confirm that brain SPET is sensitive in detecting and localizing hypoperfused areas that could be associated with epileptic foci in this group of patients, even when the MRI image is normal.
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http://dx.doi.org/10.1097/00006231-199601000-00009 | DOI Listing |
Epileptic Disord
November 2024
Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.
J Neurol
October 2024
Center for Rare Movement Disorders Innsbruck, Department of Neurology, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria.
Psychopathology
December 2024
Outpatient Clinic for Uncommon Psychiatric Syndromes, Parnassia Psychiatric Institute, The Hague, The Netherlands.
Am J Med Genet A
November 2024
Department of Child Neurology, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam University Medical Centers, VU University, and Amsterdam Neuroscience, Cellular & Molecular Mechanisms, Amsterdam, The Netherlands.
We report three siblings homozygous for CSF1R variant c.1969 + 115_1969 + 116del to expand the phenotype of "brain abnormalities, neurodegeneration, and dysosteosclerosis" (BANDDOS) and discuss its link with "adult leukoencephalopathy with axonal spheroids and pigmented glia" (ALSP), caused by heterozygous CSF1R variants. We evaluated medical, radiological, and laboratory findings and reviewed the literature.
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