Hypothalamic hamartoma with gelastic seizures

John F Kerrigan MD (Dr. Kerrigan of Barrow Neurological Institute at Phoenix Children's Hospital and University of Arizona College of Medicine has no relevant financial relationships to disclose.)
Jerome Engel Jr MD PhD, editor. (Dr. Engel of the David Geffen School of Medicine at the University of California, Los Angeles, has no relevant financial relationships to disclose.)
Originally released March 27, 2001; last updated February 9, 2017; expires February 9, 2020

Overview

In this article, the author provides a review of hypothalamic hamartoma, with an emphasis on treatment options. Hypothalamic hamartoma is a rare malformation in the ventral hypothalamus, resulting in treatment-resistant (drug-resistant) epilepsy, including gelastic seizures. However, multiple surgical approaches are now available. Treatment should be individualized to the patient's clinical course and the surgical anatomy of the hypothalamic hamartoma. Stereotactic thermoablation with near real-time MR thermography is the most recent surgical treatment option for this disease. New publications describe relatively favorable outcomes for safety and efficacy.

Key points

 

• Hypothalamic hamartoma should be considered in any patient with gelastic seizures and in any child with early onset of precocious puberty.

 

• Seizures associated with hypothalamic hamartoma are rarely controlled with antiepilepsy drugs.

 

• Cognitive impairment and psychiatric symptoms are common comorbid features with hypothalamic hamartoma and epilepsy.

 

• Surgical treatment of the hypothalamic hamartoma can control seizures and stabilize (or even improve) cognitive and psychiatric symptoms.

 

• The best surgical approach is chosen after considering each patient's clinical course and surgical anatomy.

Historical note and terminology

The first description of hypothalamic hamartoma as a cause of precocious puberty (and probably gelastic seizures, although the symptoms were not recognized as such) was published in 1934 (Le Marquand and Russell 1934). In 1958, List and colleagues recognized the association between hypothalamic hamartoma and gelastic seizures (List et al 1958). In 1988, Berkovic and colleagues described 4 children with hypothalamic hamartoma, treatment-resistant epilepsy, and progressive neurobehavioral deficits, providing the first definitive description of the catastrophic epilepsy syndrome that we recognize today (Berkovic et al 1988).

Hypothalamic hamartoma can cause 2 distinct clinical syndromes (Boyko et al 1991; Valdueza et al 1994; Arita et al 1999; Debeneix et al 2001; Jung et al 2003). Central precocious puberty is associated with hypothalamic hamartoma lesions that attach anteriorly to the ventral hypothalamus, near the tuber cinereum and pituitary stalk. These have been classified as “parahypothalamic” or “pedunculated” based on the local anatomy.

The second syndrome consists of the neurologic symptoms, usually beginning with gelastic (laughing) seizures, but often progressing to additional, more disabling seizure types, along with cognitive impairment and behavioral symptoms. These hypothalamic hamartoma lesions attach posteriorly in the ventral hypothalamus, in the region of the mammillary bodies, and have been referred to as “intrahypothalamic” or “sessile”. Approximately 40% of hypothalamic hamartoma patients with epilepsy also have central precocious puberty, due to larger lesions that have both an anterior and posterior plane of attachment to the hypothalamus.

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