PDF icon PDF herunterladen
Neuropediatrics 2025; 56(04): 278-280
DOI: 10.1055/a-2561-8410
Videos and Images in Neuropediatrics

Combined Gelastic and Dacrystic Seizures in a Child with Hypothalamic Hamartoma

Lorenz Kronast    *
1   LMU University Hospital Munich, Ludwig-Maximilians-Universität in Munich, München, Germany
,
Sarah Schweikart   *
1   LMU University Hospital Munich, Ludwig-Maximilians-Universität in Munich, München, Germany
,
Marcus Jakob
2   Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, University Hospital of Regensburg, Regensburg, Germany
,
Friederike Studt
3   Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen-Clinic, Vogtareuth, Germany
,
Gerhard Kluger
3   Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen-Clinic, Vogtareuth, Germany
4   Research Institute “Rehabilitation, Transition and Palliation” PMU Salzburg, Austria
,
Till Hartlieb
3   Center for Pediatric Neurology, Neurorehabilitation, and Epileptology, Schoen-Clinic, Vogtareuth, Germany
4   Research Institute “Rehabilitation, Transition and Palliation” PMU Salzburg, Austria
› Institutsangaben
Funding None.
› Weitere Informationen
Auch verfügbar aufeRef
   Lizenzen und Reprints
Preview

Hypothalamic hamartomas (HH) are congenital malformations developing during the fetal period. The core symptom in patients with HH is frequent stereotypical gelastic seizures (sz), in addition to other focal epileptic sz, developmental delay, cognitive decline, and endocrinologic disorders.[1] [2] Stereo-EEG studies showed that HH causes epilepsy, although the exact pathophysiology remains unclear.[3] Dacrystic sz are rare (0.06–0.53% of long-term monitoring patients)[4] and occur in combination with gelastic sz in patients with HH. According to the literature, patients after radiofrequency or laser coagulation of HH show the highest rates of seizure freedom and fewer complications compared with microsurgical resection.[5]

We report on a 34-month-old boy with combined gelastic and dacrystic sz (4–5 daily, 20–30 seconds) started at the age of 12 months, with uncontrollable, stereotyped laughter followed by crying out of situational context (see [Video 1]).

Video 1 Stereotypical episode of inadequate laughing followed by crying (combined gelastic and dacrystic seizure) with MRI findings at the end of the video.

Developmental delay in motor function, behavior, and speech was evident, compared with the family, he showed increased longitudinal growth as a likely symptom of endocrinological malfunction. Magnetic resonance imaging confirmed the diagnosis of HH (see [Video 1]) with right-sided, sessile HH type 4 according to Delalande and Fohlen. Genetic testing on GLI3-mutation (Pallister–Hall syndrome) and NF1 was negative, no further information on therapy or outcome is currently available.

* Both authors contributed equally.




Publikationsverlauf

Eingereicht: 16. November 2024

Angenommen: 17. März 2025

Accepted Manuscript online:
19. März 2025

Artikel online veröffentlicht:
07. April 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

  • References

  • 1 Kerrigan JF, Parsons A, Tsang C, Simeone K, Coons S, Wu J. Hypothalamic hamartoma: neuropathology and epileptogenesis. Epilepsia 2017; 58 (Suppl. 02) 22-31
    Suche in Google Scholar
  • 2 Uribe-San-Martin R, Ciampi E, Lawson-Peralta B. et al. Gelastic epilepsy: beyond hypothalamic hamartomas. Epilepsy Behav Case Rep 2015; 4: 70-73
    Suche in Google Scholar
  • 3 Arita K, Kurisu K, Kiura Y, Iida K, Otsubo H. Hypothalamic hamartoma. Neurol Med Chir (Tokyo) 2005; 45 (05) 221-231
    Suche in Google Scholar
  • 4 Blumberg J, Fernández IS, Vendrame M. et al. Dacrystic seizures: demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units. Epilepsia 2012; 53 (10) 1810-1819
    Suche in Google Scholar
  • 5 Bourdillon P, Ferrand-Sorbet S, Apra C. et al. Surgical treatment of hypothalamic hamartomas. Neurosurg Rev 2021; 44 (02) 753-762
    Suche in Google Scholar