Year : 2007 | Volume
: 10 | Issue : 2 | Page : 105--108
Gelastic epilepsy associated with lesions other than hypothalamic hamartoma
Ashok Panagariya1, Bhawna Sharma1, Gautam Tripathi1, Hrisikesh Kumar2, Vinay Agarwal1,
1 Department of Neurology, SMS Medical College and Attached Hospitals, Jaipur, India
2 S. K. Soni Hospital, Jaipur, India
7, Raj Niketan, Moti Doongri Road, Jaipur - 302 004
Gelastic epilepsy is a rare but well recognized epileptic syndrome typically manifesting in early childhood. It is characterized by recurrent brief seizures with initial laughter or grimacing. Also known as «DQ»laughing«DQ» seizures, their association with hypothalamic hamartomas is well known in children and adults; however other structural causes have also been implicated. This study reports three cases of gelastic seizures, one each of Tuberous sclerosis, Left temporal gliosis and Hypothalamic Hamartoma with neuronal migration defect respectively. Though these seizures are usually pharmacoresistant and may end up as a severe epileptic encephalopathy and catastrophic epilepsy of childhood, all of our cases responded well to antiepileptic medication (carbamazepine and valproate). This study underscores the fact that certain brain abnormalities other than hypothalamic tumors are also associated with gelastic seizures. The clinical characteristic of seizures in these patients is different than those of isolated hypothalamic hamartomas and that these seizures can be well controlled with antiepileptic drugs.
|How to cite this article:|
Panagariya A, Sharma B, Tripathi G, Kumar H, Agarwal V. Gelastic epilepsy associated with lesions other than hypothalamic hamartoma.Ann Indian Acad Neurol 2007;10:105-108
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Panagariya A, Sharma B, Tripathi G, Kumar H, Agarwal V. Gelastic epilepsy associated with lesions other than hypothalamic hamartoma. Ann Indian Acad Neurol [serial online] 2007 [cited 2013 May 24 ];10:105-108
Available from: http://www.annalsofian.org/text.asp?2007/10/2/105/33218
Gelastic or "laughing" seizures involve repetitive vocalization, often associated with smiling. These seizures are seen in infants, children and adults and are most often associated with hypothalamic hamartomas. There are rare reports, however, of gelastic epilepsy associated with other brain anomalies and in patients with an electrographic focus but normal brain magnetic resonance imaging (MRI). Often this epileptic syndrome is accompanied by precocious puberty and behavioral problems, especially aggressive behaviour. A cognitive decline in patients with gelastic epilepsy has also been mentioned. We report gelastic seizures with hypothalamic hamartomas associated with neuronal migration disorder and other brain anomalies like temporal gliosis and Tuberous Sclerosis. Review of literature shows studies on gelastic epilepsy done mostly evaluating cognitive functions. Even in Indian context, mostly single case studies have been done.,
A six-year-old female presented with episodes consisting of laughing automatisms with transient unresponsiveness since two years of age. Seizure occurred at a frequency of 7-10 days. Later on patient had complex partial seizures consisting of clapping of hands, turning of head to one side, incontinence followed by loss of consciousness. Birth and development history revealed delayed motor and cognitive milestones. There was no family history of epilepsy. Patient was mentally retarded. Past history of antiepileptic medications revealed that the patient had received phenytoin (100 mg/day) earlier for two years but stopped medication due to poor control of seizures. On examination patient was conscious, uncooperative. Nervous system examination revealed no focal neurological deficit.
Brain MRI revealed hypothalamic hamartoma and developmental malformation of cortical organization and neuronal migration in the form of local cortical dysplasia of temporal lobe. Electroencephalogram showed abnormal generalized spike and slow wave discharges. A neurosurgical opinion was advised which the parents refused and patient was put on carbamazepine. The dose of carbamazepine was gradually built up to 400 mg/day. Patient remained seizure free with treatment with carbamazepine till the last follow-up done one year after onset of therapy.
A three-year-old male presented with episodes consisting of episodic laughing with transient unresponsiveness since eight months of age. He had also history of infantile spasms and atonic seizures since a similar period. Seizures responded poorly to antiepileptic treatment. The patient had received phenytoin(90 mg/day) initially to which he didn't respond and later was shifted to a combination of phenytoin and phenobarbitone (60 mg/day). Patient had also received vigabatrin (250 mg/day).The patient had discontinued his medications two months back due to poor control of seizures. Birth and development history revealed delayed motor and cognitive milestones. Patient was mentally retarded. Skin examination revealed maculo-papular skin lesions over the face, neck, and shoulder. There was no family history of epilepsy. No focal neurological deficit was elicited.
Computed Tomography scan of brain revealed subependymal tubers in right parietal region [Figure 1]. Electroencephalogram done was suggestive of abnormal generalized sharp and slow discharges with a slow background. Ultrasound abdomen and 2-D Echocardiogram was normal. Patient was kept on sodium valproate at a dose of 500 mg/day for his seizures in view of history of infantile spasms. Patient remained seizure free with treatment. Last follow-up was done at about six months since start of therapy.
A 22-year-old male presented with episodes consisting of inappropriate laughing with tonic clonic contraction of limbs with loss of consciousness since two and a half years. Seizure occurred at a frequency of five to seven days. Patient received sodium valproate at a dose of 800 mg/day for his seizures after which his seizure frequency decreased but was not fully controlled. Birth history taken from parents revealed birth hypoxia and development history revealed delayed motor and cognitive milestones. Past history was not significant. There was no family history of epilepsy. Examination of nervous system revealed no focal neurological deficit. Brain MRI imaging revealed irregular gliotic areas in the left temporal lobe suggestive of old injury, resolved granuloma etc. Electroencephalogram recordings suggested abnormal spike and sharp wave discharges localized to left temporal region. Patient was put on carbamazepine, which was build up to 800 mg/day for control of seizures and he responded to treatment. Patient was completely seizure free on last follow-up which was done at about nine months since start of therapy.
This is a case series consisting of three cases of gelastic epilepsy of varied etiology. Such seizures commonly occur with hypothalamic hamartoma [Figure 2]a, b, but here we are presenting cases having extra-hypothalamic lesions. We had one case each of Tuberous Sclerosis, Left temporal gliosis and one where Hypothalamic Hamartoma was associated with neuronal migration disorder. This study demonstrates how gelastic epilepsy can occur without the presence of hypothalamic hamartoma and also discusses the difference in clinical characteristics of patients with extra-hypothalamic lesions. Two of our patients had other seizures apart from gelastic seizures, which show that multiple seizure phenomena may be a feature in cases with extra-hypothalamic lesions. Hypothalamic hamartoma per se usually only produce gelastic seizures though they can differ in severity and evolution. The origin of these seizures is complex and may be associated with secondary epileptogenesis involving neocortical regions. The involvement of both the frontal and temporal lobes as well as subcortical structures has also been suggested. EEG done in all three of our cases was abnormal. Normal electrographic patterns have been reported in young children with gelastic epilepsy whose EEGs may show progressive abnormality as the child matures.
MRI showed multiple brain abnormalities in our patients: hypothalamic hamartomas, temporal gliosis and subependymal tubers which have been reported in literature earlier., However focal obstructive hydrocephalus, focal cortical dysplasia, holoprosencephaly and lissencephaly have also been reported. A genetic etiology has also been suggested. Gelastic Seizure may also be observed in patients without MRI lesions and with normal neurologic status. It has been suggested that in such cases, clinical and EEG seizure semiology is similar to symptomatic cases, but the clinical evolution is usually more benign. Focal cortical dysplasia and hamartomas may be associated and a combination of imaging findings may be seen on MRI. Precocious puberty is common in cases of hypothalamic hamartomas. Panhypopituitarism and septo-optic dysplasia can also be seen, suggestive of midline dysfunction close to the hypothalamus. Such findings were not seen in our cases. Gelastic epilepsy without features of precocious puberty warrants the need to search for an extra-hypothalamic lesion .
In our reported cases, the initial response to treatment with phenytoin, phenobarbitone and vigabatrin was not encouraging but shifting the patients on valproate or carbamazepine the response was excellent. Valproate required a higher dose usage. This is contrary to general reports  where these seizures have been reported to be pharmacoresistant. All cases in present study responded well to pharmacotherapy and surgery was not required. A variety of surgical approaches have been recommended for hypothalamic hamartomas using subtemporal and subfrontal approaches have led to significant complications and limited success. Recent studies show that transcallosal interforniceal resection may beneficial.
Gelastic epilepsy is a rare type of epilepsy. It is commonly seen in Hypothalamic Hamartomas but can also be seen in other disorders like Tuberous Sclerosis, temporal lobe lesions, focal obstructive hydrocephalus, focal cortical dysplasia etc. Our study emphasizes that gelastic seizures can occur with extra-hypothalamic lesions, however the clinical presentation differs from those seen in cases of hypothalamic hamartoma. Contrary to popular belief these epilepsies can be well-controlled with antiepileptic medications like valproate and carbamazepine. Surgical treatment of cases associated with Hypothalamic Hamartomas can lead to significant morbidity and has limited success rate except for the recent study using transcallosal interforniceal resection of such tumors.
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