Brain & Development 32 (2010) 499–501 www.elsevier.com/locate/braindev
Case report
Hemifacial seizures due to ganglioglioma of cerebellum Sae Hanai a,*, Ken-ichi Okazaki a, Yoshinao Fujikawa a, Eiji Nakagawa a, Kenji Sugai a, Masayuki Sasaki a, Taisuke Otsuki b a
Departments of Child Neurology, National Center Hospital for Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira Tokyo 187-8551, Japan b Neurosurgery, National Center Hospital for Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira Tokyo 187-8551, Japan Received 19 December 2008; received in revised form 14 June 2009; accepted 15 June 2009
Abstract We present a male infant with hemifacial seizures refractory to antiepileptic medication. Hemifacial spasms around the left eye were frequent during wakefulness and sleep since birth. He also had mild psychomotor retardation. Magnetic resonance imaging (MRI) revealed a large tumor in the left middle cerebellar peduncle. Ictal single photon emission computed tomography (SPECT) and ictal 18F-fluorodeoxyglucose [18F-FDG] positron emission tomography (PET) revealed hyperperfusion and hyper glucose metabolism at the tumor. Total removal of the tumor resulted in complete disappearance of hemifacial seizures and improved psychomotor development, indicating that the cerebellar tumor caused hemifacial seizures. A histopathological study confirmed that the tumor was a ganglioglioma. This case and the literature on similar cases indicated that this was a new epileptic syndrome originating in the cerebellum. Early diagnosis and early complete removal of the epileptogenic lesion should be recommended for this syndrome. Ó 2009 Elsevier B.V. All rights reserved. Keywords: Hemifacial seizures; Cerebellar ganglioglioma; Epileptogenic lesion
1. Introduction The cerebellum has been thought not to be the site of lesions associated with epileptic seizures because subcortical structures such as the brainstem and cerebellum have been considered to have only modulatory effects on cerebral epileptic activity [1,2]. Recently, however, epileptic seizures caused by the cerebeller tumors [3– 10] have been reported. We present an infant with cerebellar ganglioglioma and hemifacial seizures refractory to antiepileptic drugs. *
Corresponding author. Present address: National Center for Child Health and Development, Development of Perinatology, 2-10-1 Okura Setagaya-ku Tokyo, 157-8535, Japan. Tel.: +81 42 341 2711; fax: +81 42 344 6745. E-mail address:
[email protected] (S. Hanai). 0387-7604/$ - see front matter Ó 2009 Elsevier B.V. All rights reserved. doi:10.1016/j.braindev.2009.06.005
This case indicates hemifacial seizures due to cerebellar origin, suggesting a unique syndrome of subcortical epilepsy.
2. Case report A male infant was born to healthy, non-consanguineous parents after a gestation period of 39 weeks by uneventful vaginal delivery, and he weighed 3200 g. A very brief contraction, of few minutes, at the left eyebrow was repeatedly observed on the day of his birth. Subsequently, this contraction was seen paroxysmally every day and night. He visited a hospital at 7 months of age. Non-enhanced computed tomography of the brain and interictal electroencephalography did not show any abnormalities. Magnetic resonance imaging
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(MRI) at 8 months revealed a mass lesion in the left middle cerebellar peduncle. Initially, he was treated with antiepileptic drugs carbamazepine (CBZ) and clonazepam (CZP), but the frequency and duration of the hemifacial spasms did not reduce. He was referred to our hospital when he was 1.5-year-old. The hemifacial spasms started with raising of the left eyebrow and twitching of the left eyelid. Next, bilateral blinking followed, with paradoxical raising of the left eyebrow. Both eyes were deviated to the right. The facial contractions lasted for several hours and were more frequent during sleep than when he was awake. His psychomotor developmental milestones were delayed. He could not walk without support, or speak meaningful words. Cerebellar manifestation showed slight hypotonia in the extremities. Physical and neurological findings were otherwise normal. MRI revealed an unenhanced mass lesion outside the left middle cerebellar peduncle. Ictal single photon emission computed tomography (SPECT) revealed focal hyperperfusion, and ictal positron emission tomography (PET) with 18F-fluorodeoxyglucose (18F-FDG), revealed
extremely increased glucose metabolism in the same mass lesion (Fig. 1). However, a magnetoencephalogram recording revealed no abnormalities. The findings from ictal SPECT, ictal PET scans indicated that the focus of the hemifacial spasms was in the cerebellar mass lesion. The mass was totally resected when the patient was 1 year and 9 months old. Pathological examination revealed a tumor composed of diffused ganglion cells admixed with glial cells, and the pathologic diagnosis was ganglioglioma. After resection, the hemifacial seizures completely disappeared. His psychomotor development gradually caught up. The data of development of quoitent before and 3 years after the surgery were 70 and 98, respectively, which mean he developed appropriately for his age. 3. Discussion In the present case, focal hyperperfusion found by ictal SPECT, glucose hypermetabolism revealed by ictal 18 F-FDG–PET in the lesion that had been identified by MRI confirmed the cerebellum as the source of seizures.
Fig. 1. (a) Axial T2-weighted MRI image revealing a mass lesion outside of the left middle cerebellar peduncle. (b) Ictal SPECT reveals focal hyperperfusion over the same area identified by MRI. (c) Ictal FDG–PET shows glucose hypermetabolism over the same cerebellar area.
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Generally, the epileptogenic zone exhibits hypometabolism on interictal FDG–PET. The hypermetabolism demonstrated by ictal FDG–PET in the present case could be explained by persistent seizure activity during the study. Complete seizure control after resection of the tumor confirmed that the seizures originated primarily in the tumor. The coexistence of hemifacial spasms and cerebellar tumor in infants, strikingly similar to the present case, was reported by Langston and Tharp in 1976 [3] and review of literatures identified at least 14 children displaying this coexistence [3–10]. All had hemifacial spasms and a few displayed additional features of tonic head and/or eye deviation and deviations in arm movements. Electrical and mechanical stimulation in human cerebellum produces motor manifestations similar to the hemifacial seizures [11]. Delalande et al. [7] recorded paroxysmal discharges within the cerebellar lesion and spequlated the attacks spreading to the brainstem nuclei and make hemifacial spasms. In previous reports, surgical exploration was performed in eleven, of whom seven had ganglioglioma, one had low grade astrocytoma, and three had hamartoma. In most of the patients, the tumor originated in the upper or upper and middle cerebellar peduncle. After resection of the tumor, five patients showed complete disappearance of the hemifacial seizures and in two patients the seizures were less frequent or less severe; the former cases received subtotal or complete resection, and the latter received partial resection. In one of the patients receiving a total resection, this was performed after partial resection of the tumor because of insufficient control of epilepsy. Our case emphasizes the importance of complete lesionectomy for seizure control in cases involving intractable epilepsy with brain tumor. Hemifacial seizures due to cerebellar tumor are very rare in infancy. This is one of the unique epileptic syndromes originating in subcortical areas. Because this syndrome is completely treatable, early diagnosis and
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early treatment should be recommended as it leads to favorable psychomotor development.
Acknowledgment The authors are very grateful to Dr. Masayuki Ito for his contribution in pathological examination. References [1] Dow RS, Ferna´ndez-Guardiola A, Manni E. The influence of the cerebellum on experimental epilepsy. Electroencephalogr Clin Neurophysiol 1962;14:383–98. [2] Miller JM, Gray BC, Turner GM. Role of the fastigial nucleus in generalized seizures as demonstrated by GABA agonist microinjections. Epilepsia 1993;34:973–8. [3] Langston JW, Tharp BR. Infantile hemifacial spasm. Arch Neurol 1976;33:302–3. [4] Harvey AS, Jayakar P, Duchowny M, Resnick T, Prats A, Altman N, et al. Hemifacial seizures and cerebellar ganglioglioma: an epilepsy syndrome of infancy with seizures of cerebellar origin. Ann Neurol 1996;40:91–8. [5] McLone DG, Stieg PE, Scott RM, Barnett F, Barnes PD, Folkerth R. Cerebellar epilepsy: case presentation. Neurosurgery 1998;42:1106–11. [6] Chae JH, Kim SK, Wang KC, Kim KJ, Hwang YS, Cho BK. Hemifacial seizure of cerebellar ganglioglioma origin: seizure control by tumor resection. Epilepsia 2001;42:12. [7] Delalande O, Rodriguez D, Chiron C, Fohlen M. Successful surgical relief of seizures associated with hamartoma of the floor of the fourth ventricle in children: report of two cases. Neurosurgery 2001;49:726–30. [8] Mesiwala AH, Kuratani JD, Avellino AM, Roberts TS, Sotero MA, Ellenbogen RG. Focal motor seizures with secondary generalization arising in the cerebellum: case report and review of the literature. J Neurosurg 2002;97:190–607. [9] Kulkarni S, Hegde A, Shah KN. Hemifacial seizures and cerebellar tumor: A rare co-existence. Indian Pediatrics 2007;44:378–9. [10] Park YS, Oh MC, Kim HD, Kim DS. Early surgery of hamartoma of the floor of the fourth ventricle: a case report. Brain Dev 2009;31:247–351. [11] Nashold Jr BS, Slaughter DG. Effects of stimulating or destroying the deep cerebellar regions in man. J Neurosurg 1969;31:172–86.
