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A developmentally normal, 30-month-old boy began having gelastic (i e , associated with mirth) seizures at the age of four months His past history was significant only for a Nissen fundoplication, which may have been performed for presumptive gastroesophageal reflux disease (GERD) or, more likely, gelastic seizures mistaken for GERD The seizures were stereotyped and characterized by sucking and laughing Often, the patient would ask for a drink during the seizure and would drink ferociously if not restrained At times, the patient would also become violent The seizures were brief and averaged 30 seconds in duration (range 10-90 seconds) with only occasional, minimal postictal lethargy He was subsequently diagnosed with a hypothalamic ham-artoma (HH) on brain MRI scanning Seizure frequency had been variable initially, but gradually evolved to an average of every 5 minutes, constituting "status gelasticus ." The seizures would persist through sleep and awaken the patient throughout the night The patient had previously failed therapy with phenobarbital, topiramate, and clonazepam He was treated with levetirace-tam, acetazolamide, and nocturnal high-dose lorazepam None of the antiepi-leptic drugs (AEDs) significantly reduced seizure frequency His neurological examination was otherwise normal The patient was transferred to a tertiary center for emergent surgical treatment/resection of the HH lesion Twenty-four hour scalp video-EEG recording was performed as well as a preoperative brain MRI scan that showed his HH (Figure 15 . 1A and B) . Video-EEG recording confirmed an average of 10 gelastic seizures per hour as identified by parents There were no ictal EEG patterns seen other than muscle and motion artifact In addition, the patient's baseline and interictal recordings were

Seizure Diary

FIGURE 15.1 Preoperative brain MRI T2-weighted coronal (A) and Tl-weighted sagittal (B) views of the hypothalamic hamartoma as shown by the arrows .

FIGURE 15.1 Preoperative brain MRI T2-weighted coronal (A) and Tl-weighted sagittal (B) views of the hypothalamic hamartoma as shown by the arrows .

normal . The patient then underwent emergent transcallosal interforniceal resec-tionoftheHH . Thesurgerywascomplicatedbyasmallright-sidedthalamicinfarct withresultantmildtransientlefthemiparesisthatcompletelyresolvedwithin2days Figures 15 . 2A and B show the postoperative brain MRI scan . The patient had three brief (less than 30 seconds) stereotypical seizures within the first week after surgery He became seizure-free for 2 months before the gelastic seizures recurred, but at a much reduced seizure frequency (i . e . , >90% reduction compared to his preoperative baseline) . Neuropathological examination of the resected lesion demonstrated subependymal tissue composed of disorganized glial and neuronal elements consistent with an HH . After 19 months, endoscopic resection (via the lateral ventricle and through the foramen of Monro) of residual hypothalamic hamartoma tissue was performed for persistent gelastic seizures . The patient has now been seizure free for more than 12 months, and off antiepileptic medications He is assessed to be developmentally normal with minor behavioral problems (hyperactivity with labile mood)

DIFFERENTIAL DIAGNOSIS

Gelastic (or laughing) seizures were first described by Daly and Mulder in 1957. They are characterized by bouts of laughter that may be either similar or, more commonly, distinct from the patients' usual laughter, and associated with a slight sensation or appearance of discomfort A related seizure type may involve crying and/or facial contraction with an exaggerated grimace; these are referred to as dacrystic seizures . Affected patients may exhibit both forms of seizures, or seizures with mixed features of both types . Autonomic symptoms such as flushing, tachycardia, and altered respiration are often associated with these seizures . Most (but not all) of these seizures are simple partial in nature with preservation of awareness They are usually brief (less than 30 seconds) without a postictal phase Status gelasticus is the most severe form, defined as a prolonged cluster of gelastic seizures lasting longer than 20-30 minutes . Patients usually do not report a feeling of mirth . In its mildest form, patients have simply described an urge to laugh that can be self suppressed . Scalp EEG monitoring usually does not show any ictal correlate Typically, the seizure diagnosis is missed or delayed for many years and is often misdiagnosed as a "happy baby," colic, or gas-troesophageal reflux disease Patients with gelastic seizures should undergo detailed neuroimaging with particular emphasis on the hypothalamus, including MRI brain scans with fine coronal sections through this region

Most cases of gelastic seizures represent a symptomatic form of epilepsy By far the commonest etiology of gelastic epilepsy is an HH HHs are rare developmental malformations of the inferior hypothalamus and tuber cinereum . Other causes include rare structural lesions impinging upon the floor of the third ventricle, such as tubers of tuberous sclerosis, pituitary tumors, gliomas, meningiomas, and basilar artery aneurysms Frontal and temporal lobe epilepsy rarely cause gelastic seizures In HH patients, gelastic seizures are almost always the first seizure manifestation, which in retrospect often begins shortly after birth Many of these patients subsequently develop a refractory mixed epilepsy and epileptic encephalopathy It

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Seizure Diary

FIGuRE 15.2 Postoperative T2-weighted brain MRI coronal (A) and sagittal (B) images of the resected hypothalamic hamartoma shown by the arrows The postoperative drain tube that was subsequently removed is seen on the sagittal view.

is believed that the other evolving seizure types result from a secondary "epilepto-genesis" where other parts of the brain "learn" from the HH how to generate seizures . Mental retardation and behavioral problems—including rage attacks—are commonly seen In addition, precocious puberty occurs in approximately half the HH patients . A subset of HH patients has a specific midline syndrome known as Pal-lister-Hall syndrome It is a rare syndrome that can occur either spontaneously or be inherited in an autosomal dominant fashion through a mutation in the GLI3 gene . It is associated with polydactly, midline defects, including dysmorphic facial features, hypothalamic hamartoma, and imperforate anus

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