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Imaging Characteristics of Hypothalamic Hamartomas in an Australian Paediatric Population
Jonathan Erickson1, Harry D'Souza1, George Wang2
1Perth Children's Hospital, Nedlands, Western Australia, Australia.
Insights
Hypothalamic hamartoma (HH) lesions with a pedunculated shape are linked to central precocious puberty (CPP). Sessile or intra-hypothalamic HH lesions correlate with gelastic seizures and neuropsychiatric symptoms.
Area of Science:
- Neurology
- Paediatric Endocrinology
- Medical Imaging
Background:
- Hypothalamic hamartoma (HH) is a rare congenital malformation impacting quality of life.
- HH commonly presents as central precocious puberty (CPP) or gelastic seizures.
Purpose of the Study:
- To review cases of HH at a paediatric tertiary centre over 20 years.
- To investigate the hypothesis linking lesion proximity to the infundibulum with CPP.
Main Methods:
- Retrospective review of 16 HH cases identified via MRI (2000-2022).
- Evaluation of patient records and imaging data.
Main Results:
- Six patients had CPP, six had seizures, and four had other issues.
- Pedunculated lesions significantly correlated with CPP.
- Sessile/intra-hypothalamic lesions correlated with gelastic seizures/neuropsychiatric symptoms.
Conclusions:
- HH presents with CPP or gelastic seizures.
- Pedunculated lesions are associated with CPP; third ventricular involvement with seizures/neuropsychiatric symptoms.
- No clear link found between specific hypothalamic location and phenotype; further research needed.
Background:
Hypothalamic hamartoma (HH) is a rare congenital malformation that can significantly disrupt patient quality of life and typically presents with either central precocious puberty or gelastic seizures.
Objective:
We seek to add to the current literature through a retrospective review of all cases of HH seen at our paediatric tertiary centre over the previous two decades. We also sought to test the novel hypothesis that lesions located closer to or contacting the infundibulum were more likely to present with central precocious puberty (CPP).
Materials And Methods:
Retrospective review of the public PACS system was performed, yielding a total of sixteen patients with HH identified on MRI between January 2000 and February 2022. Imaging and patient records were retrospectively evaluated.
Results:
Six patients presented with central precocious puberty (CPP), six with gelastic or other seizure disorders, and four had alternate presenting issues. Our study demonstrates a statistically significant relationship between pedunculated lesions and CPP and between sessile/intrahypothalamic lesions and gelastic seizure/neuropsychiatric symptoms. We did not demonstrate a relationship between tumour location relative to the infundibulum or mammillary bodies and clinical manifestations.
Conclusion:
Hypothalamic hamartomas are rare congenital malformations which typically present with one of two classical phenotypes: CPP or gelastic seizure. The study demonstrates a statistically significant relationship between pedunculated lesions and CPP and between lesions with third ventricular involvement and gelastic seizure/neuropsychiatric symptoms. We did not demonstrate a clear relationship between specific tumour location within the hypothalamus and phenotype; larger cohort studies are recommended to further investigate this hypothesis.
