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• W1847908912 abstract "To the Editor: We read with interest the case reported by Laan and Vein of a 6-year-old girl with the classic phenotype of Rett syndrome (RTT) with a genetic confirmation (MECP2 mutation) who had one of the EEG patterns of Angelman syndrome (AS) during her follow-up: high-amplitude delta waves with superimposed low-amplitude sharp waves (triphasic waves) (1). We would like to document one additional patient at age 8 years who had the suggestive phenotype of AS (2), characterized by severe developmental delay from birth with no definite history of regression, emission of a few meaningless words, suggestive facial traits, and a wide-based gait. No evidence was noted of hand washing or episodes of hyperventilation. Moreover, in our case, two consecutive EEGs (at 5 and 7 years) also were suggestive of AS, with the presence of high-amplitude delta waves with a notched appearance and a persistent theta activity over posterior regions. Molecular studies for AS did not confirm the clinical diagnosis, and the patient remained diagnosed as an AS patient without a detectable genetic mechanism. Later, serial EEGs revealed moderate-amplitude spikes over the central region over a slow background for the patient's age, which resembled those observed in RTT. To rule out the diagnosis of RTT, molecular studies that were conducted revealed an MECP2 mutation. Scheffer et al. (3) described the clinical overlap between AS and RTT and cautioned against making the diagnosis without a typical EEG, especially during infancy. Recently Watson et al. (4), reporting five children with RTT who had clinical features of AS during childhood, gave further evidence of the importance of the EEG, even in older patients. The report of these two cases of RTT children with EEGs suggestive of AS is not in disagreement with former statements (3, 4), but they add evidence that the diagnosis of AS and RTT includes the phenotype, EEG, and genotype. Indeed, EEG has an undeniable role in AS and RTT (5); however, when it is used to support an etiologic diagnosis, it must be in the proper clinical setting. In the absence of a known genetic mechanism, it would be reasonable to have a diagnosis, at least, supported by phenotype and EEG, instead of phenotype or EEG. Moreover, our case demonstrates that, on rare occasions, even taking into account the whole scenario, the differential diagnosis between these conditions can be more complex than previously thought, including older patients, when phenotype should be well established and clear enough to enable a proper differentiation. Our case strongly substantiates the assertion of Watson et al. (3) and, later, of Laan and Vein (1), who wisely stated that molecular studies for RTT should be performed in AS patients without genetic confirmation (∼15% of all AS cases), and unclear phenotype, especially in infants, based on the presence of clinical and EEG similarities. Nevertheless we believe that molecular studies for RTT should be mandatory in all cases of AS without genetic confirmation, despite the patient's age. Finally, these rare cases of RTT, with clinical and EEG findings of AS, prompt the discussion about the specificity of the EEG in these syndromes. EEG findings of AS have already been reported in other chromosomal disorders, such as 4p deletion (6). However, in these syndromes, the distinction on a clinical basis was so clear that this discussion seemed to be only a semantic issue. The presence of children with RTT with AS EEGs shows that one typical or pathognomonic EEG can have important practical implications. The stigma caused by an isolated or precocious report of a typical EEG of AS can mislead the diagnosis and postpone molecular studies and genetic counseling." @default.
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• W1847908912 date "2003-06-09" @default.
• W1847908912 modified "2023-10-09" @default.
• W1847908912 title "Another Rett Patient with a Typical Angelman EEG" @default.
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• W1847908912 doi "https://doi.org/10.1046/j.1528-1157.2003.04803_3.x" @default.
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