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Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures

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Abstract

Purpose

Hypothalamic hamartomas (HH) are malformations responsible for drug-resistant epilepsy. HH are usually isolated or part of a genetic syndrome, such as Pallister-Hall. Exceptionally they can be associated with other brain malformations such as polymicrogyria (PMG) and periventricular nodular heterotopia (PNH). We discuss the origin of the seizures associated with this combination of malformations, through electrophysiological studies, and review the literature on this rarely reported syndrome.

Methods

We retrospectively reviewed the patients with HH who had surgery between 1998 and 2020 and selected those with associated focal PMG and PNH, detected on MRIs. All patients had comprehensive clinical evaluation and surface video-EEG and one underwent stereoelectroencephalography (SEEG).

Results

Three male patients out of 182 were identified with a mean age at surgery of 7.5 years. MRI showed unilateral focal PMG (fronto-insulo-parietal, fronto-insulo-parieto-opercular, and fronto-insular, respectively) and multiple PNH homolateral to the main HH implantation side. In two patients, there were strong clinical and scalp EEG arguments for seizure onset within the HH. In the third, due to abnormalities on scalp video-EEG in the same area as PMG and the lack of gelastic seizures, SEEG was indicated and demonstrated seizure onset within the hamartoma. With a mean follow-up of 6 years, two patients were seizure-free.

Conclusion

Our results show that HH is the trigger of epilepsy, which confirms the high epileptogenic potential of this malformation. In patients such as ours, as in those with isolated HH, we recommend to begin by operating the HH independently of seizure semiology or electrophysiological abnormalities.

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Acknowledgements

We are indebted to our EEG technologists Mrs M. Benghezal and Mrs I. Cheramy.

Author information

Authors and Affiliations

  1. Pediatric Neurosurgery Department, Rothschild Foundation Hospital, 29 rue Manin, 75019, Paris, France

    Martine Fohlen, Delphine Taussig, Sarah Ferrand-Sorbets & Georg Dorfmuller

  2. Neurophysiologie Et Epileptologie, Université Paris Saclay-APHP, Le Kremlin Bicêtre, France

    Delphine Taussig

  3. Diagnostic Neuroradiology Department, Rothschild Foundation Hospital, Paris, France

    Jerry Blustajn

  4. Department of Paediatric Neurology, Bayonne Hospital, Bayonne, France

    Serge Rivera

  5. Epilepsy Center for Children and Adolescents, Neuropediatric Clinic and Clinic for Neurorehabilitation, Schoen-Klinik Vogtareuth, Krankenhausstr. 20, D-83569, Vogtareuth, Germany

    Tom Pieper

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  1. Martine Fohlen
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  4. Serge Rivera
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Contributions

All authors contributed to the study conception and design. Material preparation was done by Martine Fohlen and Delphine Taussig; data collection was done by Tom Pieper, Serge Rivera, and Martine Fohlen. EEG analysis and EEG figures were done by Delphine Taussig. MRI analysis and MRI figures were done by Jerry Blustajn. The patients were operated on by Georg Dorfmuller and Sarah Ferrand Sorbets. The first draft of the manuscript was written by Martine Fohlen and Delphine Taussig and all authors commented on previous versions of the manuscript. English revision was done by Jerry Blustajn, a native English speaker. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Martine Fohlen.

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Ethics approval and consent to participate

Ethical approval was waived by the local Ethics Committee of Foundation Rothschild Hospital in view of the retrospective nature of the study, and all the procedures being performed were part of the routine care. The study was conducted in accordance with the declaration of Helsinki. Informed consent form was signed by the parents.

Consent for publication

All authors (1) made substantial contributions to the acquisition, analysis, and interpretation of data; 2) drafted or revised it the work critically for important intellectual content; (3) approved the version to be published; and (4) agreed to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

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Fohlen, M., Taussig, D., Blustajn, J. et al. Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures. Childs Nerv Syst 38, 1965–1975 (2022). https://doi.org/10.1007/s00381-022-05573-w

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