Gelastic seizures and low-grade hypothalamic astrocytoma: a case report

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Brain & Development 24 (2002) 183–186 www.elsevier.com/locate/braindev

Case report

Gelastic seizures and low-grade hypothalamic astrocytoma: a case report Giangennaro Coppola a,*, Diego Spagnoli b, Nicola Sciscio a, Francesco Russo a, Roberto Matteo Villani b a

Department of Pediatrics, Clinic of Child and Adolescent Neuropsychiatry, Second University of Naples, Via Pansini, 5, 80131 Naples, Italy b Institute of Neurosurgery, Ospedale Maggiore Policlinico, IRCCS, Milan, Italy Received 20 September 2001; received in revised form 10 December 2001; accepted 28 December 2001

Abstract The typical, well recognized childhood epilepsy syndrome caused by hypothalamic hamartoma is characterized by early-onset, stereotyped attacks of uncontrollable laughter, frequent refractory seizures with progressive cognitive deterioration and severe behavioral problems. Here, we report a 17-year-old patient with gelastic phenomenon started in the neonatal period, later on associated with drug resistant polymorphic seizures, intellectual deficit and behavioral disorders, who improved by partial resection of an expected hypothalamic hamartoma that, in turn, resulted to be a hypothalamic low-grade astrocytoma. q 2002 Elsevier Science B.V. All rights reserved. Keywords: Gelastic seizures; Hypothalamic astrocytoma; Refractory epilepsy; Hypothalamus; Transcallosal resection

1. Introduction Gelastic (laughing) seizures defined as stereotypic recurrence of prevailing laughter inadapted to the context, associated with other signs compatible with seizure and with ictal and/or interictal electroencephalographic (EEG) abnormalities [4], are quite rare and may be both symptomatic and cryptogenic [9]. A frequent finding in the symptomatic group is hypothalamic hamartoma whereas other lesions involving the floor of the third ventricle such as tuberous sclerosis, pituitary tumors, gliomas, meningiomas and aneurisms of the basilar artery are quite rare [3]. Hypothalamic hamartoma is often associated with earlyonset gelastic seizures, thus configuring a well recognized and usually severe childhood epilepsy syndrome. In particular, this syndrome is characterized by early-onset, often in the neonatal period, brief, repetitive, stereotyped attacks of uncontrollable laughter, progressing with age with appearance of other types of seizures, cognitive deterioration and severe behavioral problems, frequently developing late in the first decade of life together with drop-attacks and other clinical and EEG features of secondary generalized epilepsy. It is generally assumed that this clinical association, largely identified in case studies in children, helps to distinguish this epileptic syndrome caused by hypothalamic

* Corresponding author. Fax: 139-81-5666694. E-mail address: [email protected] (G. Coppola).

hamartoma from the epileptic laughter associated with other lesions [2]. This report is concerned with the clinical history, the neuroradiological and electroclinical seizure pattern of a patient with early-onset refractory gelastic seizures, later on associated with other types of seizures, mental deficit and behavior disorders, operated on for hypothalamic hamartoma that the histological evaluation revealed to be a low-grade hypothalamic astrocytoma.

2. Patient report J.P. is a 17-year-old boy, born to unrelated healthy parents after an uncomplicated full-term pregnancy. Two siblings are in good health. The neonatal period was unremarkable; his birth weight was 3750 g. Accessory digit on both hands was present at birth. Psychomotor development was normal; at age 3 years the child was operated on for bilateral exadactily. At age 1 year and a half frequent spontaneous, unprovoked episodes of pleasant laughter lasting a few seconds without apparent loss of consciousness and sometimes followed by brief atonic fits, manifested two to four times per day with diurnal and nocturnal attacks. It is of interest that from the first days of life the patient showed brief laughter-like vocalization considered to be normal. Laughing seizures continued daily throughout early childhood, usually with facial flushing, pupillary dilatation, often followed by generalized upper limb jerks.

0387-7604/02/$ - see front matter q 2002 Elsevier Science B.V. All rights reserved. PII: S 0387-760 4(02)00018-9

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Fig. 1. (a–c) On sagittal plane sections the T1-weighted MR images at ages 8, 12 and 17 years show a sessile, not significantly modified over time, hypoisointense mass, extending both superiorly and inferiorly, with clear hypothalamic displacement and distortion of the third ventricle, respectively. (d) Post-operative T1-weighted sagittal image shows a transcallosal approach with partial removal of the mass. (e) T1-W, PD (f), and T2-W (g) axial images showing a hypo and hyperintense hypothalamic signal, respectively.

A brain computerized tomography (CT) scan performed at age 5 years was unremarkable. Conversely, a magnetic resonance imaging (MRI) scan at age 8 years showed a 1 £ 1 cm isointense in T1 and hyperintense in T2 image, impressing the floor of the third ventricle above the tuber cynereum, suggestive of a sessile hamartoma (Fig. 1a). At this age no endocrinological alterations and precocious puberty were noticed. By the age of 16 years, typical gelastic seizures with autonomic signs with or without precipitous falls, sometimes resulting in facial injury, were present virtually daily together with progressing intellectual deterioration and increasing behavior problems, which became extremely serious. In fact, the patient developed sudden, apparently unprovoked bouts of uncontrolled violent rage with no obvious relationship between episodes of rage and seizures. Two follow-up MRIs at ages 12 and 16 years, respectively, confirmed the T1-W isointense and T2-W hyperintense, not contrast enhanced hypothalamic lesion,

undergoing a slight, progressive enlargement over time (Fig. 1b, c, e–g). Video and holter EEG recordings showed both interictal generalized spike and wave discharges predominating over the frontal areas and brief gelastic seizures. At age 17 years, the patient manifested frequent brief episodes of headache and blurred vision; fundoscopy resulted within normal limits. As our patient had been operated on for bilateral exadactily, a possible link with the Pallister-Hall syndrome, which is characterized by the association of polysyndactily and hypothalamic hamartoma, was excluded by the mutational analysis of the GLI3 gene [5]. On October 20, 1999 the patient was operated on by a transcallosal approach. The multiple histological specimens showed a fibrillary astrocytoma characterized by a low cell density with hyperchromatic round to elongated nuclei. Some cell processes tended to form a loose fibrillary matrix (Fig. 2). After a 10-day seizure-free period, brief seizures of less

Fig. 2. Typical low-grade astrocytoma with low cell density hyperchromatic irregular nuclei. Some cell processes tend to form a loose fibrillary matrix.

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pleasant and infectious laughter, lasting a few seconds, reappeared almost daily, but with no apparent loss of consciousness and no other motor phenomenon. The patient also showed marked improvement in cognitive function and behavior. He has become quieter and more docile. One month after leaving the hospital, he asked to go back to school. He again enjoys reading, writing and socializing in the classroom. He is now able to go out for walks alone or with his friends and his homelife has returned to ‘normal’. The patient is slowly being weaned off one of his three antiepileptic drugs.

3. Discussion To our knowledge, this is the first reported case of a patient with typical symptomatic gelastic seizures due to a hypothalamic astrocytoma, whose clinical, EEG and neuroradiological patterns overlap with what has been described in typical gelastic epilepsy due to hypothalamic hamartoma [2]. At present, in fact, only cases with hypothalamic astrocytoma associated with precocious puberty [10], or with obesity and hypogonadism [1] or patients with hypothalamic-chiasmathic astrocytoma and diencephalic syndrome [8] have been reported. In our patient, the clinical history (early seizure onset, frequent laughing attacks associated with flushing and loss of consciousness with or without drop-attacks or tonic– clonic jerks, drug resistance, progressive cognitive worsening evolving towards a symptomatic generalized epilepsy), and serial neuroradiological findings suggest a hypothalamic hamartoma. The present case demonstrates, on the other hand, that gelastic seizures associated with small T2-weighted high intensity MR images in the hypothalamus may be due to lesions different from the hypothalamic hamartoma, and that we must be aware of slow growing neoplasias. In fact, a mass of this size should have been seen on the CT scan at age 5 years. If it was not, this is an indication that it grew significantly in the 3 year interval between the CT and the MR scan at age 8 years showed in Fig. 1a. Successively, the hypothalamic mass did not show significant changes in size (Fig. 1b–d). It must be understood that other lesions such as craniopharyngioma, ganglioglioma, optic pathway glioma, lymphoma, suprasellar germinoma may be found in the same area and that MR images are essentially different from those found for the hypothalamic hamartoma. The hypothalamic astrocytoma, on the contrary, may show both CT and MRI findings that almost overlap with those of the hypothalamic hamartoma. Therefore, together with Tashiro et al. [10], we do not think that it is possible yet to distinguish a low-grade astrocytoma from a hamartoma when using CT and MRI alone. The direct role of the hypothalamic hamartoma in the generation of gelastic seizures has been demonstrated by

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EEG recordings of ictal discharges directly from the hypothalamic lesion, by ictal single photon emission computed tomography (SPECT) hyperperfusion observed in this area [6] and, occasionally, by good seizure control resulting from surgical ablation [11] or radiofrequency thermocoagulation of the hypothalamic hamartoma [6,7]. In our patient, the almost complete seizure remission soon after partial ablation of the hypothalamic astrocytoma together with the overlapping clinical symptomatology with hypothalamic hamartoma seems to demonstrate that the location of the lesion, more than the type of the neoplastic mass, might play a major role in determining the clinical symptomatology. Like in patients with hypothalamic hamartomas, a partial resection of the hypothalamic mass, performed to avoid postoperative complications, resulted in very good clinical improvement 6 months after surgery [11]. Stereotactic radiofrequency thermocoagulation of the astrocytoma may still be considered should a complete ablation be needed, considering that this technique provides a minimally invasive, low-risk approach to the treatment of the hypothalamic tumors [7]. In conclusion, this report shows that the well recognized, early-onset, gelastic epilepsy syndrome, usually associated with a hypothalamic hamartoma, may be due to other hypothalamic masses such as a low-grade hypothalamic astrocytoma. Though a neuroradiological distinction between a hypothalamic hamartoma and astrocytoma may be very difficult, patients with an established diagnosis of hypothalamic hamartoma should be evaluated periodically, and serial MRI scans be performed in the attempt to highlight even minimal increases of the hypothalamic mass. Faced with this possibility, the surgical ablation, i.e. by means of the gamma-knife surgery, should be considered in patients with gelastic drug-resistant seizures and progressive cognitive and behavioral problems, developing a secondary generalized epilepsy.

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