Hypothalamic Hamartomas: Evolving Understanding and Management.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 34607926.
- Also identified by DOI 10.1212/WNL.0000000000012773 and PMC identifier 8610628.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Hypothalamic hamartomas (HH) are rare, basilar developmental lesions with widespread comorbidities often associated with refractory epilepsy and encephalopathy. Imaging advances allow for early, even prenatal, detection. Genetic studies suggest mutations in <i>GLI3</i> and other patterning genes are involved in HH pathogenesis. About 50%-80% of children with HH have severe rage and aggression and a majority of patients exhibit externalizing disorders. Behavioral disruption and intellectual disability may predate epilepsy. Neuropsychological, sleep, and endocrine disorders are typical. The purpose of this article is to provide a summary of the current understanding of HH and to highlight opportunities for future research.
Medical subject headings
- Epilepsy
- Hamartoma
- Hypothalamic Diseases