Hypothalamic hamartoma related to Pallister-Hall syndrome in an adolescent patient: illustrative case.

Authors

Victor Ramzes Chavez-Herrera, Department of Neurosurgery, Specialties Hospital, Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI, Ciudad de México, México.Follow
Roberto Casarrubias-Islas, Department of Neurosurgery, Pediatric Hospital, Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI, Ciudad de México, México.
Karen A Leal-Tapia, Department of Pathology, Pediatric Hospital, Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI, Ciudad de México, México.
Rosa L Margarita Flores-Salgado, Department of Pathology, Pediatric Hospital, Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI, Ciudad de México, México
Juan C Huicochea-Montiel, Department of Genetics, Pediatric Hospital, Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI, Ciudad de México, México.
Bayron A Sandoval-Bonilla, Department of Neurosurgery, Specialties Hospital, Instituto Mexicano del Seguro Social Centro Médico Nacional Siglo XXI, Ciudad de México, México.

Corresponding Author

Victor Ramzes Chavez-Herrera

Document Type

Case Report

Abstract

Background: Hypothalamic hamartomas in relationship to Pallister-Hall syndrome are extremely rare; just over 100 cases have been reported. Most hypothalamic hamartomas are sporadic.

Observation(s): A 17-year-old boy presented with a 3-year history of gelastic seizures and a suprasellar mass. The complete physical examination, blood work, and study images resulted in bilateral mesial-polydactyl, metacarpal syndactyly, glandular hypospadias, and hypoplastic nails. There were no hormone or neurological manifestations. MRI studies demonstrated a large non-enhancing suprasellar mass adjacent to the hypothalamus and displaced normal structures. An open biopsy of the mass and genetic studies were carried out to confirm the presumptive diagnosis. After the biopsy, treatment with Gamma knife and continuation of the anti-epileptic drug was indicated. The patient is seizure-free to this day.

Conclusion: Patients with Pallister-Hall hypothalamic hamartomas have a milder clinical scenario than native hypothalamic hamartomas; Pallister-Hall gelastic seizures usually respond well to antiepileptic drugs, and native hypothalamic hamartomas are well-known to be resistant. Even though a very large suprasellar mass could be found, most patients present with premature puberty and/or gelastic seizures, with almost no neurological deficits related to the size of the mass.

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This work is licensed under a Creative Commons Attribution 4.0 International License.

Recommended Citation

Chavez-Herrera, Victor Ramzes; Casarrubias-Islas, Roberto; Leal-Tapia, Karen A; Flores-Salgado, Rosa L Margarita; Huicochea-Montiel, Juan C; and Sandoval-Bonilla, Bayron A (2025) "Hypothalamic hamartoma related to Pallister-Hall syndrome in an adolescent patient: illustrative case.," Archives of Neurosurgery: Vol. 3: Iss. 1, Article 1.
DOI: https://doi.org/10.71119/2992-8478.1054
Available at: https://www.ansjournal.org/home/vol3/iss1/1