AI Article Synopsis

  • * A 25-year-old female patient with a history of seizures experienced gelastic seizures (inappropriate laughter) and developed GS to the right side, despite ongoing antiepileptic treatment and inconclusive EEG results.
  • * The presence of polydactyly in the patient raised the possibility of Pallister Hall syndrome (PHS), though some features were missing; the report emphasizes the relationship between GS and HH, encouraging research on the implications of hypothalam

Article Abstract

Gyratory seizures (GS) are a rare seizure type characterized by body rotation of ≥180° around its vertical axis. While GS have been documented in various epileptic syndromes, their occurrence in association with hypothalamic hamartomas (HH) has not been reported previously. This case report introduces the first documented instance of GS in a patient with a HH, a non-neoplastic tumor originating from the tuber cinereum. The patient, a 25-year-old female, with a history of recurrent seizures since childhood, initially presented with gelastic seizures, marked by inappropriate laughter, and subsequent evolution of symptoms including right oculocephalic version and gyratory seizures to the right side. Despite multiple antiepileptic medications, seizures persisted. Neuroimaging revealed a HH in the right hypothalamic region. The presence of polydactyly prompted consideration of Pallister Hall syndrome (PHS). PHS is an autosomal dominant condition linked to GLI3 gene mutations. While some features of PHS were absent in this case, the presence of both gelastic and gyratory seizures indicated the hypothalamus as the lesion site, despite inconclusive electroencephalogram findings. This report underscores the novel association of GS with HH and highlights the importance of considering PHS in patients with HH and polydactyly presenting with gelastic and gyratory seizures. Understanding GS in HH may offer insights into broader hypothalamic lesion-related epileptic phenomena.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11227928PMC
http://dx.doi.org/10.14581/jer.24008DOI Listing

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Article Synopsis
  • * A 25-year-old female patient with a history of seizures experienced gelastic seizures (inappropriate laughter) and developed GS to the right side, despite ongoing antiepileptic treatment and inconclusive EEG results.
  • * The presence of polydactyly in the patient raised the possibility of Pallister Hall syndrome (PHS), though some features were missing; the report emphasizes the relationship between GS and HH, encouraging research on the implications of hypothalam
View Article and Find Full Text PDF

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