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Gelastic epilepsy, hypothalamic hamartoma, precocious puberty, and agenesis of the corpus callosum: a new association
Brain & Development 20 (1998) 239–241
Case report
Gelastic epilepsy, hypothalamic hamartoma, precocious puberty, and agenesis of the corpus callosum: a new association Alikchan A. Alikchanov a , b ,*, Andrey S. Petrukhin b, Konstantin Yu. Mukhin b, Alexander Yu. Nikanorov c a
Department of Computed Tomography, Russian Childcare Hospital, 117 Leninsky prosp., 117513 Moscow, Russia b Child Neurology Department, Russian State Medical University, Moscow, Russia c Diagnostic Radiology Department, Russian Childcare Hospital, Moscow, Russia Received 30 October 1997; revised version received 20 January 1998; accepted 29 January 1998
Abstract We describe a boy who has gelastic epilepsy, precocious puberty, hypothalamic hamartoma, and agenesis of the corpus callosum. We believe that this is the first documented case in which agenesis of the corpus callosum has been associated with hypothalamic hamartoma and gelastic epileptic syndrome in a child. 1998 Elsevier Science B.V. All rights reserved Keywords: Gelastic seizure; Hypothalamic hamartoma; Agenesis of corpus callosum
1. Introduction Gelastic (laughing) epilepsy is an uncommon abnormality and is often associated with hypothalamic hamartomas (HH), pituitary tumors, astrocytomas of the mammillary bodies, and dysraphic conditions [1]. The etiology and pathogenesis of this clinical syndrome are not completely understood, but the concurrence of laughing seizures, HH and precocious puberty is well-recognized in children. To our knowledge, association of these symptoms with agenesis of corpus callosum (ACC) has not been reported previously. Here we report the case of a child with gelastic epilepsy, HH, precocious puberty, and ACC.
2. Case report Our patient, who presented at our institution when he was 7 years old, had frequent (as many as 30 per day) laughing episodes that were completely resistant to anticonvulsant therapy and occasional generalized tonic-clonic epileptic seizures that typically occurred at night. The generalized * Corresponding author. Tel.: +7 95 9369371/3305744; fax: +7 95 4969054; e-mail: [email protected]
0387-7604/98/$19.00 1998 Elsevier Science B.V. All rights reserved PII S0387-7604 (98 )0 0015-1
seizures were decreased 75% by anticonvulsant therapy. Symptoms of high psychomotor excitability and sleep disturbances were first observed when our patient was 2 years old. His parents started to notice signs of aggressive behavior and delayed mental development when he was 3 years of age. Also, the first laughing seizure occurred when the patient was a 3-year-old; specific leg movements (pedaling) accompanied this episode. The attacks became progressively more frequent and were increasingly accompanied by generalized tonic-clonic seizures and loss of consciousness. At the age of 5 years, the patient showed signs of precocious puberty (enlarged penis and muscular build), which responded well to hormone therapy (triptorelin). Electroencephalography (EEG) revealed paroxysmal discharges during interictal periods in the temporal and frontotemporal regions. The amplitude, frequency, and type (including background) of activity differed greatly between the right and left hemispheres (the so-called split-brain pattern). Axial T1-weighted SE (TR-450/TE-25) magnetic resonance imaging (MRI) revealed a massive (25 × 23 mm) isointense egg-shaped lesion in the suprasellar region (Fig. 1). Axial T1-weighted SE (TR-450/TE-25) on level of middle part of third ventricle revealed the signs of ACC: the interhemispheric fissure and isolated dilatation of the right
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A.A. Alikchanov et al. / Brain & Development 20 (1998) 239–241
Fig. 1. MRI (0.5 T) axial T1 SE (TR-450/TE-25). Note the isointense eggshaped lesion with transverse size 25 × 23 mm in the suprasellar region.
occipital horn of the lateral ventricles (Fig. 2). A T1weighted SE sagittal image (TR-500/TE-25) revealed an isointense tumor-like mass in the medialis hypothalamus and total absence of structures of the corpus callosum (Fig. 3). There were no other imaging findings suggestive
Fig. 2. MRI (0.5 T) T1 SE (TR-450/TE-25). Axial slice on level of middle part of third ventricle revealed the interhemispheric fissure and isolated dilatation of the right occipital horn of the lateral ventricles.
Fig. 3. MRI (0.5 T) T1 SE (TR-500/TE-25). Sagittal slice revealed isointense tumor-like mass in the middle part of hypothalamus (nucleus ventromedialis) and total absence of structures of the corpus callosum.
of cerebral pathology. No biopsy of the hypothalamic mass was obtained.
3. Discussion The epileptic syndrome of gelastic epilepsy is characterized by brief, frequent, and mechanical-sounding unnatural episodes of laughter [2]. These features distinguish this syndrome from other forms of epileptic laughter, particularly that of temporal lobe epilepsy [3]. Usually, patients with gelastic epilepsy have ictal episodes of laughter as well as other types of medically refractory epileptic seizures, including generalized tonic-clonic seizures, absences and complex partial seizures with secondary generalization [4]. The clinical picture of the present case is fairly typical for gelastic epilepsy, but our patient’s dramatically impaired mental function and the ‘split-brain’ pattern of the interictal EEG led us to suspect a developmental anomaly of the commissural structures of the brain. HH are benign malformations of the brain. These lesions contain heterotopic nervous tissue and are often associated with precocious puberty and gelastic seizures in early childhood. In fact, neuroradiologic studies have revealed HH in almost every case in which by precocious puberty accompanies the characteristic laughing seizures of gelastic epilepsy. Idiopathic gelastic seizures in the absence of typical neuroradiologic findings are rare but have been reported [1]. MRI is the preferred method for detecting mass lesions at the base of the brain. The use of MRI with sagittal and axial views enable better visualization of hamartomas and earlier
A.A. Alikchanov et al. / Brain & Development 20 (1998) 239–241
diagnosis. Cascino et al. [3] noted that HH may be difficult to identify by computed tomography (CT). The large size of our patient’s hypothalamic lesion and its marked masseffect on CT (which was performed before presentation to our clinic) led us to suspect hamartoma and to direct patient to the MRI investigation. T1-Weighted, sagittal images were superior to axial scans in delineating the total ACC. Consistent with a diagnosis of hamartoma, axial MRI slices revealed a massive egg-shaped lesion in the middle part of the hypothalamus. The lesion was isointense to gray matter on T1-weighted images, enabling us to exclude other types of hypothalamic tumors. When concurrent with lack of growth, these MRI findings are diagnostic of hamartoma; biopsy is unnecessary [5]. The reported data may improve our understanding of this unusual epileptic syndrome.
Acknowledgements The authors thank Dr. James W. Langston, Department of Radiology of University of Tennessee, Memphis, TN, USA, for his correction of the original text.
241
References [1] Iannetti P, Chessa L, Raucci U, Basile L, Fantozzi L, Bozzao L. Gelastic epilepsy. A clinical contribution. Clin Pediatr 1992;31:467– 470. [2] Marliani AF, Tampieri D, Melancon D, Ethier R, Berkovic SF, Andermann F. Magnetic resonance imaging of hypothalamic hamartomas causing gelastic epilepsy. Can Assoc Radiol J 1991;42:335– 339. [3] Berkovic SF, Andermann F, Melanson D, Ethier RE, Feindel W, Gloor P. Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann Neurol 1988;23:429–439. [4] Cascino GD, Andermann F, Berkovic SF, Kuzniecky RI, Sharbrough FW, Keene DL. et al. Gelastic seizures and hypothalamic hamartomas: evaluation of patients undergoing chronic intracranial EEG monitoring and outcome of surgical treatment. Neurology 1993;43:747–750. [5] Acilona Echeverria V, Casado Chocan JL, Lopez Dominguez JM, Aguilera Navarro JM, Margues Martin E, Munoz Villa C. Gelastic seizures, precocious puberty and hypothalamic hamartomas. A case report and the contributions of single photon emission computed tomography (SPECT). Neurologia 1994;9:61–64.
Case report
Gelastic epilepsy, hypothalamic hamartoma, precocious puberty, and agenesis of the corpus callosum: a new association Alikchan A. Alikchanov a , b ,*, Andrey S. Petrukhin b, Konstantin Yu. Mukhin b, Alexander Yu. Nikanorov c a
Department of Computed Tomography, Russian Childcare Hospital, 117 Leninsky prosp., 117513 Moscow, Russia b Child Neurology Department, Russian State Medical University, Moscow, Russia c Diagnostic Radiology Department, Russian Childcare Hospital, Moscow, Russia Received 30 October 1997; revised version received 20 January 1998; accepted 29 January 1998
Abstract We describe a boy who has gelastic epilepsy, precocious puberty, hypothalamic hamartoma, and agenesis of the corpus callosum. We believe that this is the first documented case in which agenesis of the corpus callosum has been associated with hypothalamic hamartoma and gelastic epileptic syndrome in a child. 1998 Elsevier Science B.V. All rights reserved Keywords: Gelastic seizure; Hypothalamic hamartoma; Agenesis of corpus callosum
1. Introduction Gelastic (laughing) epilepsy is an uncommon abnormality and is often associated with hypothalamic hamartomas (HH), pituitary tumors, astrocytomas of the mammillary bodies, and dysraphic conditions [1]. The etiology and pathogenesis of this clinical syndrome are not completely understood, but the concurrence of laughing seizures, HH and precocious puberty is well-recognized in children. To our knowledge, association of these symptoms with agenesis of corpus callosum (ACC) has not been reported previously. Here we report the case of a child with gelastic epilepsy, HH, precocious puberty, and ACC.
2. Case report Our patient, who presented at our institution when he was 7 years old, had frequent (as many as 30 per day) laughing episodes that were completely resistant to anticonvulsant therapy and occasional generalized tonic-clonic epileptic seizures that typically occurred at night. The generalized * Corresponding author. Tel.: +7 95 9369371/3305744; fax: +7 95 4969054; e-mail: [email protected]
0387-7604/98/$19.00 1998 Elsevier Science B.V. All rights reserved PII S0387-7604 (98 )0 0015-1
seizures were decreased 75% by anticonvulsant therapy. Symptoms of high psychomotor excitability and sleep disturbances were first observed when our patient was 2 years old. His parents started to notice signs of aggressive behavior and delayed mental development when he was 3 years of age. Also, the first laughing seizure occurred when the patient was a 3-year-old; specific leg movements (pedaling) accompanied this episode. The attacks became progressively more frequent and were increasingly accompanied by generalized tonic-clonic seizures and loss of consciousness. At the age of 5 years, the patient showed signs of precocious puberty (enlarged penis and muscular build), which responded well to hormone therapy (triptorelin). Electroencephalography (EEG) revealed paroxysmal discharges during interictal periods in the temporal and frontotemporal regions. The amplitude, frequency, and type (including background) of activity differed greatly between the right and left hemispheres (the so-called split-brain pattern). Axial T1-weighted SE (TR-450/TE-25) magnetic resonance imaging (MRI) revealed a massive (25 × 23 mm) isointense egg-shaped lesion in the suprasellar region (Fig. 1). Axial T1-weighted SE (TR-450/TE-25) on level of middle part of third ventricle revealed the signs of ACC: the interhemispheric fissure and isolated dilatation of the right
240
A.A. Alikchanov et al. / Brain & Development 20 (1998) 239–241
Fig. 1. MRI (0.5 T) axial T1 SE (TR-450/TE-25). Note the isointense eggshaped lesion with transverse size 25 × 23 mm in the suprasellar region.
occipital horn of the lateral ventricles (Fig. 2). A T1weighted SE sagittal image (TR-500/TE-25) revealed an isointense tumor-like mass in the medialis hypothalamus and total absence of structures of the corpus callosum (Fig. 3). There were no other imaging findings suggestive
Fig. 2. MRI (0.5 T) T1 SE (TR-450/TE-25). Axial slice on level of middle part of third ventricle revealed the interhemispheric fissure and isolated dilatation of the right occipital horn of the lateral ventricles.
Fig. 3. MRI (0.5 T) T1 SE (TR-500/TE-25). Sagittal slice revealed isointense tumor-like mass in the middle part of hypothalamus (nucleus ventromedialis) and total absence of structures of the corpus callosum.
of cerebral pathology. No biopsy of the hypothalamic mass was obtained.
3. Discussion The epileptic syndrome of gelastic epilepsy is characterized by brief, frequent, and mechanical-sounding unnatural episodes of laughter [2]. These features distinguish this syndrome from other forms of epileptic laughter, particularly that of temporal lobe epilepsy [3]. Usually, patients with gelastic epilepsy have ictal episodes of laughter as well as other types of medically refractory epileptic seizures, including generalized tonic-clonic seizures, absences and complex partial seizures with secondary generalization [4]. The clinical picture of the present case is fairly typical for gelastic epilepsy, but our patient’s dramatically impaired mental function and the ‘split-brain’ pattern of the interictal EEG led us to suspect a developmental anomaly of the commissural structures of the brain. HH are benign malformations of the brain. These lesions contain heterotopic nervous tissue and are often associated with precocious puberty and gelastic seizures in early childhood. In fact, neuroradiologic studies have revealed HH in almost every case in which by precocious puberty accompanies the characteristic laughing seizures of gelastic epilepsy. Idiopathic gelastic seizures in the absence of typical neuroradiologic findings are rare but have been reported [1]. MRI is the preferred method for detecting mass lesions at the base of the brain. The use of MRI with sagittal and axial views enable better visualization of hamartomas and earlier
A.A. Alikchanov et al. / Brain & Development 20 (1998) 239–241
diagnosis. Cascino et al. [3] noted that HH may be difficult to identify by computed tomography (CT). The large size of our patient’s hypothalamic lesion and its marked masseffect on CT (which was performed before presentation to our clinic) led us to suspect hamartoma and to direct patient to the MRI investigation. T1-Weighted, sagittal images were superior to axial scans in delineating the total ACC. Consistent with a diagnosis of hamartoma, axial MRI slices revealed a massive egg-shaped lesion in the middle part of the hypothalamus. The lesion was isointense to gray matter on T1-weighted images, enabling us to exclude other types of hypothalamic tumors. When concurrent with lack of growth, these MRI findings are diagnostic of hamartoma; biopsy is unnecessary [5]. The reported data may improve our understanding of this unusual epileptic syndrome.
Acknowledgements The authors thank Dr. James W. Langston, Department of Radiology of University of Tennessee, Memphis, TN, USA, for his correction of the original text.
241
References [1] Iannetti P, Chessa L, Raucci U, Basile L, Fantozzi L, Bozzao L. Gelastic epilepsy. A clinical contribution. Clin Pediatr 1992;31:467– 470. [2] Marliani AF, Tampieri D, Melancon D, Ethier R, Berkovic SF, Andermann F. Magnetic resonance imaging of hypothalamic hamartomas causing gelastic epilepsy. Can Assoc Radiol J 1991;42:335– 339. [3] Berkovic SF, Andermann F, Melanson D, Ethier RE, Feindel W, Gloor P. Hypothalamic hamartomas and ictal laughter: evolution of a characteristic epileptic syndrome and diagnostic value of magnetic resonance imaging. Ann Neurol 1988;23:429–439. [4] Cascino GD, Andermann F, Berkovic SF, Kuzniecky RI, Sharbrough FW, Keene DL. et al. Gelastic seizures and hypothalamic hamartomas: evaluation of patients undergoing chronic intracranial EEG monitoring and outcome of surgical treatment. Neurology 1993;43:747–750. [5] Acilona Echeverria V, Casado Chocan JL, Lopez Dominguez JM, Aguilera Navarro JM, Margues Martin E, Munoz Villa C. Gelastic seizures, precocious puberty and hypothalamic hamartomas. A case report and the contributions of single photon emission computed tomography (SPECT). Neurologia 1994;9:61–64.