Authors :
Presenting Author: Hiroshi Shirozu, MD, PhD – NHO Nishiniigata Chuo Hospital
Hiroshi Masuda, MD – Department of Functional Neurosurgery – National Hospital Organization Nishiniigata Chuo Hospital; Tomoyoshi Ota, MD – Department of Functional Neurosurgery – National Hospital Organization Nishiniigata Chuo Hospital; Masafumi Fukuda, MD, PhD – Department of Functional Neurosurgery – National Hospital Organization Nishiniigata Chuo Hospital; Jun Tohyama, MD, PhD – Department of Child Neurology – National Hospital Organization Nishiniigata Chuo Hospital; Shigeki Kameyama, MD, PhD – Department of Neurosurgery – Niigata Seiro Hospital
Rationale:
World Health Organization approved the Intersectoral Global Action Plan on Epilepsy and Other Neurological Disorders (IGAP), and International League Against Epilepsy advocated for 90-80-70 cascade target for epilepsy. Hypothalamic hamartoma (HH) is one of the rare diseases which is sometimes overlooked and delayed to be referred to adequate treatment. We have established an excellent surgical treatment using stereotactic radiofrequency thermocoagulation (SRT) for epileptic HH, but sometimes encounter some aged patients who have been overlooked even today.
Methods:
The present study enrolled 113 patients who lived in Japan and underwent SRT from 2011 to 2021. We investigated ages at onset of gelastic seizure (GS) and other types of seizures (nonGS), age at surgery, as well as ages when the patients visited clinic or hospital for the first time and when they were diagnosed as HH. The relationship between these age factors and seizure outcomes or anti-seizure medications were also evaluated.
Results:
Ages at GS onset, nonGS onset, and surgery were 0-12 years (median, one year), 0-44 years (median, five years), and 1.8-51.5 years (median, 7.2 years), respectively. Preceding nonGSs were found in 8/86 patients (9.3%), and also 12 patients (10.6%) showed precocious puberty before any seizure onset. Delayed reference to our hospital was due to misunderstanding by family in 23 cases (20.4%), misdiagnosis or misunderstanding by first doctors in 39 (34.5%), and both in 18 cases (15.9%). The reference was motivated by family not but by physicians in 10 cases (8.9%). Intrahypothalamic type was significantly delayed to be diagnosed compared to parahypothalamic or mixed types (P< 0.001). Delayed diagnoses did not affect GS outcomes but significantly correlated to nonGS residual after surgery (P=0.03) and increase of preoperative anti-seizure medications (P=0.001).
Conclusions:
Delayed diagnoses were more often attributed to physician’s factors. Delayed diagnoses did not affect GS outcomes but nonGS outcomes, and also result in unnecessary medications. Poor outcomes of nonGS by misdiagnoses was suspected to be due to elongation of epilepsy duration which was considered to result in independence of secondary epileptogenesis. The findings were concordant to the previous study
1,2 which demonstrated the relationship between poor nonGS outcomes and long duration of epilepsy. Because of the rarity of the disease as well as the unique seizure semiology of GS, HH is sometimes overlooked to miss the opportunity to have adequate surgical treatment. To avoid such treatment delay, education, and public awareness are necessary.
Funding: This study was supported in part by the Ministry of Health, Labour and Welfare of Japan, Research program on rare and intractable diseases, Grant number JPMH23FC1013.