Hypothalamic Hamartoma and its Sequelae
A hypothalamic hamartoma (HH) is a rare developmental malformation associated with seizures of varying semiology, including Gelastic seizures [1, 2, 3, 4]. The hamartoma is typically located on the ventral portion of the hypothalamus near the mammillary bodies [5]. The presence of a HH is linked with cognitive decline and behavioral issues, as well as the early onset of puberty [1, 5, 6]. Roughly half of all patients with HH have either focal or general cognitive deficits of varying severity (with some ultimately declining to the point of intellectual disability), and around one-third have behavioral difficulties including ADHD, violent outbursts, conduct disorder, and co-morbid psychiatric conditions [5, 7, 8]. The cognitive decline and behavioral disturbances observed in patients with HH are linked with both the size and location of the hamartoma, as well as seizure frequency [5]. As for treatment options, anti-epileptic drugs have poor efficacy in this population and a surgical approach (e.g. ablation) is preferred [6, 9]. There is a good prognosis of total seizure freedom post-surgery [9], but surgical injury to the mammillary bodies or fornix could lead to a state of anterograde amnesia, especially if the injury occurs bilaterally or in the language dominant hemisphere [10]. This link shows an MRI of a typical hypothalamic hamartoma contributed by Dr. Frank Gaillard to Radiopaedia.org.
ABSTRACTS
Hypothalamic hamartomas: optimal approach to clinical evaluation and diagnosis
Hypothalamic hamartomas (HHs) present a difficult medical problem, manifested by gelastic seizures, which are often medically intractable. Although existing techniques offer modest surgical outcomes with the potential for significant morbidity, the relatively novel technique of magnetic resonance imaging (MRI)-guided stereotactic laser ablation (SLA) offers a potentially safer, minimally invasive method with high efficacy for the HH treatment. We report here on 14 patients with medically refractory gelastic epilepsy who underwent stereotactic frame-based placement of an MR-compatible laser catheter (1.6 mm diameter) through a 3.2-mm twist drill hole. A U.S. Food and Drug Administration (FDA)-cleared laser surgery system (Visualase, Inc.) was utilized to ablate the HH, using real-time MRI thermometry. Seizure freedom was obtained in 12 (86%) of 14 cases, with mean follow-up of 9 months. There were no permanent surgical complications, neurologic deficits, or neuroendocrine disturbances. One patient had a minor subarachnoid hemorrhage that was asymptomatic. Most patients were discharged home within 1 day. SLA was demonstrated to be a safe and effective minimally invasive tool in the ablation of epileptogenic HH. Because use of SLA for HH is being adopted by other medical centers, further data will be acquired to help treat this difficult disorder. [Wilfong, A. A. & Curry, D. J. (2013). Epilepsia,54(Supp 9), 109-114.]
Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy.
Hypothalamic hamartoma (HH) syndrome comprises the clinical triad of epilepsy, developmental retardation, and central precocious puberty. A predominant opinion has been that the acquired cognitive and behavioral disorders observed in children with this syndrome are a direct effect of their seizure activity. A review of the recent literature suggests that this opinion needs to be revised because it is only partially supported by the data. The size of the HH and its anatomic attachment/location, in addition to the seizure history, appear to contribute to the cognitive and behavioral disturbances in children with HH. Small sample sizes and the inability to use standard neuropsychological testing scales in more severely affected HH patients complicate the study of causality. The present literature, however, suggests that multiple factors contribute to the cognitive and behavioral problems of these children. [Prigatano, G. P. (2007). Seminars in pediatric neurology,14(2), 65-72.]
PODCAST
Topic editor Dr. Harold Rekate of the Barrow Neurological Institute, Phoenix, Arizona, speaks with Dr. Jeffrey Rosenfeld of Monash University, Melbourne, Australia, about Dr. Rosenfeld’s article “The evolution of treatment for hypothalamic hamartoma: a personal odyssey.” Listen to it here.
REFERENCES and FURTHER READING:
1. Gulati, S., Gera, S., Menon, P. S. N., Kabra, M., & Kalra, V. (2002). Hypothalamic hamartoma, gelastic epilepsy, precocious puberty–a diffuse cerebral dysgenesis. Brain and Development, 24(8), 784-786.
2. Kerrigan, J. F., Ng, Y. T., Chung, S., & Rekate, H. L. (2005). The hypothalamic hamartoma: a model of subcortical epileptogenesis and encephalopathy. Seminars in pediatric neurology, 12(2),119-131.
3. Harvey, A. S., & Freeman, J. L. (2007). Epilepsy in hypothalamic hamartoma: clinical and EEG features. Seminars in pediatric neurology,14(2), 60-64.
4. Georgakoulias, N., Vize, C., Jenkins, A., & Singounas, E. (1998). Hypothalamic hamartomas causing gelastic epilepsy: two cases and a review of the literature. Seizure, 7(2), 167-171.
5. Prigatano, G. P. (2007). Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy.Seminars in pediatric neurology,14(2), 65-72.
6. Nguyen, D., Singh, S., Zaatreh, M., Novotny, E., Levy, S., Testa, F., & Spencer, S. S. (2003). Hypothalamic hamartomas: seven cases and review of the literature. Epilepsy & Behavior, 4(3), 246-258.
7. Weissenberger, A. A., Dell, M. L., Liow, K., Theodore, W., Frattali, C. M., Hernandez, D., & Zametkin, A. J. (2001). Aggression and psychiatric comorbidity in children with hypothalamic hamartomas and their unaffected siblings. Journal of the American Academy of Child & Adolescent Psychiatry,40(6), 696-703.
8. Veendrick-Meekes, M. J. B. M., Verhoeven, W. M. A., Van Erp, M. G., Van Blarikom, W., & Tuinier, S. (2007). Neuropsychiatric aspects of patients with hypothalamic hamartomas. Epilepsy & Behavior, 11(2), 218-221.
9. Wilfong, A. A. & Curry, D. J. (2013). Hypothalamic hamartomas: optimal approach to clinical evaluation and diagnosis.Epilepsia,54(Supp 9), 109-114.
10. Harvey, A. S., & Rosenfeld, J. V. (2013). What happens to cognitive function following surgery for hypothalamic hamartoma? Neurology, 81(12), 1028.
ABSTRACTS
Hypothalamic hamartomas: optimal approach to clinical evaluation and diagnosis
Hypothalamic hamartomas (HHs) present a difficult medical problem, manifested by gelastic seizures, which are often medically intractable. Although existing techniques offer modest surgical outcomes with the potential for significant morbidity, the relatively novel technique of magnetic resonance imaging (MRI)-guided stereotactic laser ablation (SLA) offers a potentially safer, minimally invasive method with high efficacy for the HH treatment. We report here on 14 patients with medically refractory gelastic epilepsy who underwent stereotactic frame-based placement of an MR-compatible laser catheter (1.6 mm diameter) through a 3.2-mm twist drill hole. A U.S. Food and Drug Administration (FDA)-cleared laser surgery system (Visualase, Inc.) was utilized to ablate the HH, using real-time MRI thermometry. Seizure freedom was obtained in 12 (86%) of 14 cases, with mean follow-up of 9 months. There were no permanent surgical complications, neurologic deficits, or neuroendocrine disturbances. One patient had a minor subarachnoid hemorrhage that was asymptomatic. Most patients were discharged home within 1 day. SLA was demonstrated to be a safe and effective minimally invasive tool in the ablation of epileptogenic HH. Because use of SLA for HH is being adopted by other medical centers, further data will be acquired to help treat this difficult disorder. [Wilfong, A. A. & Curry, D. J. (2013). Epilepsia,54(Supp 9), 109-114.]
Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy.
Hypothalamic hamartoma (HH) syndrome comprises the clinical triad of epilepsy, developmental retardation, and central precocious puberty. A predominant opinion has been that the acquired cognitive and behavioral disorders observed in children with this syndrome are a direct effect of their seizure activity. A review of the recent literature suggests that this opinion needs to be revised because it is only partially supported by the data. The size of the HH and its anatomic attachment/location, in addition to the seizure history, appear to contribute to the cognitive and behavioral disturbances in children with HH. Small sample sizes and the inability to use standard neuropsychological testing scales in more severely affected HH patients complicate the study of causality. The present literature, however, suggests that multiple factors contribute to the cognitive and behavioral problems of these children. [Prigatano, G. P. (2007). Seminars in pediatric neurology,14(2), 65-72.]
PODCAST
Topic editor Dr. Harold Rekate of the Barrow Neurological Institute, Phoenix, Arizona, speaks with Dr. Jeffrey Rosenfeld of Monash University, Melbourne, Australia, about Dr. Rosenfeld’s article “The evolution of treatment for hypothalamic hamartoma: a personal odyssey.” Listen to it here.
REFERENCES and FURTHER READING:
1. Gulati, S., Gera, S., Menon, P. S. N., Kabra, M., & Kalra, V. (2002). Hypothalamic hamartoma, gelastic epilepsy, precocious puberty–a diffuse cerebral dysgenesis. Brain and Development, 24(8), 784-786.
2. Kerrigan, J. F., Ng, Y. T., Chung, S., & Rekate, H. L. (2005). The hypothalamic hamartoma: a model of subcortical epileptogenesis and encephalopathy. Seminars in pediatric neurology, 12(2),119-131.
3. Harvey, A. S., & Freeman, J. L. (2007). Epilepsy in hypothalamic hamartoma: clinical and EEG features. Seminars in pediatric neurology,14(2), 60-64.
4. Georgakoulias, N., Vize, C., Jenkins, A., & Singounas, E. (1998). Hypothalamic hamartomas causing gelastic epilepsy: two cases and a review of the literature. Seizure, 7(2), 167-171.
5. Prigatano, G. P. (2007). Cognitive and behavioral dysfunction in children with hypothalamic hamartoma and epilepsy.Seminars in pediatric neurology,14(2), 65-72.
6. Nguyen, D., Singh, S., Zaatreh, M., Novotny, E., Levy, S., Testa, F., & Spencer, S. S. (2003). Hypothalamic hamartomas: seven cases and review of the literature. Epilepsy & Behavior, 4(3), 246-258.
7. Weissenberger, A. A., Dell, M. L., Liow, K., Theodore, W., Frattali, C. M., Hernandez, D., & Zametkin, A. J. (2001). Aggression and psychiatric comorbidity in children with hypothalamic hamartomas and their unaffected siblings. Journal of the American Academy of Child & Adolescent Psychiatry,40(6), 696-703.
8. Veendrick-Meekes, M. J. B. M., Verhoeven, W. M. A., Van Erp, M. G., Van Blarikom, W., & Tuinier, S. (2007). Neuropsychiatric aspects of patients with hypothalamic hamartomas. Epilepsy & Behavior, 11(2), 218-221.
9. Wilfong, A. A. & Curry, D. J. (2013). Hypothalamic hamartomas: optimal approach to clinical evaluation and diagnosis.Epilepsia,54(Supp 9), 109-114.
10. Harvey, A. S., & Rosenfeld, J. V. (2013). What happens to cognitive function following surgery for hypothalamic hamartoma? Neurology, 81(12), 1028.
About the Contributor:
Victor A. DelBene, MA is a doctoral trainee at Ferkauf Graduate School of Psychology, Clinical Psychology PhD Program (with Health Emphasis).
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