Gelastic Seizure(Ictal laughter) is frequently associated with hypothalamic hamartoma that is congenital tumor composed of heterotrophic and hyperplastic tissue located in the hypothalamus near the interpeduncular cistern, tuber cinereum, and mamillary body. The seizure usually begins in infancy or childhood and may be accompanied with precocious puberty and cognitive decline. A 14 year-old boy visited to our hospital because of paroxysmal frequent involuntary laughing regardless of emotional change. Brain MRI showed nonenhancing hypothalamic mass that had isointensity with gray matter on T1W1 and hyperintensity on T2Wl. So it was suspected that he had a gelastic seizure accompanied with hypothalamic hamartoma.
Adolescent ; Brain ; Hamartoma* ; Humans ; Hypothalamus ; Magnetic Resonance Imaging ; Male ; Mamillary Bodies ; Puberty, Precocious ; Seizures* ; Tuber Cinereum

We report a 12 year-old girl patient with hypothalmic hamartoma presented a gelastic seizure for 11 years. On magnetic resonance images, a 10.5 mm-sized mass was detected that was originated from the tuber cinereum into the third ventricle. This mass was isosignal intensity on T1WI, slightly high signal intensity on T2WI and not enhanced with Gadolinium. On interictal EEG, the frequent spike or polyspike dischage was recorded from the left fronto-central area. On ictal EEG, the suspicious polyspike dischages followed by spike and wave discharge were recorded from the left or both fronto-central or fronto-centro-temporal area. On 18-FDG PET (18-fluorodeoxyglucose positron emission tomography), the glucose metabolism was decresed on the mass. We treated this lesion using gamma knife radiosurgery (18 Gy at 50% margin, 508.2 mm3 volume). After 6 months, the frequency of gelastic seizure was decreased.
Child ; Electroencephalography ; Electrons ; Female ; Gadolinium ; Glucose ; Hamartoma* ; Humans ; Metabolism ; Radiosurgery* ; Seizures* ; Third Ventricle ; Tuber Cinereum

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."
Anticonvulsants ; Brain ; Child ; Epilepsy ; Hamartoma ; Humans ; Infant ; Magnetic Resonance Imaging ; Parents ; Puberty, Precocious ; Seizures ; Tuber Cinereum

PURPOSE: Hypothalamic hamartomas are non-neoplastic malformations which are composed of hyperplastic neuronal tissue of varying size. Clinically, they are characterized by gelastic seizure, precocious puberty, and behavioral and psychiatric disorders. This study was performed to examine the various features of hypothalamic hamartomas such as neurologic manifestations, other clinical manifestations, and EEG and brain MRI findings. Response to AEDs or outcome of operation on hypothalamic hamartoma was evaluated. METHODS: Eleven patients who were admitted to Seoul National University Children's Hospital from July 1986 to January 1997 and diagnosed as hypothalamic hamartoma by brain MRI or CT were enrolled in this study. Clinical manifestations and EEG were reviewed retrospectively through the medical records. The size and type of the hypothalamic hamartoma on brain MRl were analyzed. RESULTS: 1) The range of age at visit was 1yr 9mo to 17yr 2mo (mean 10yr 8mo), and the age at onset was 1yr 1mo to 14yr to 2mo (mean 5yr 8mo). Six patients were male and five were female. 2) The clinical manifestations included gelastic seizure (n=9), behavioral and psychiatric disorders (n=9), other types of seizure (n=8), and precocious puberty (n=6). Other types of seizure were complex partial seizure (n=3), generalized tonic seizure(n=3), and infantile spasm (n=2). 3) The interictal EEG findings included focal spike discharges (n=8), diffuse delta slowings (n=1), hypsarrhythmia (n=1), and normal record (n=1). The focal spike discharges originated from the temporal (n=2), fronto-temporal (n=1), occipital (n=3), or frontal area(n=2). 4) The brain MRI showed that the size of the hypothalamic hamartomas was 2.47+/-1.12cm, and the origin of the tumors was tuber cinereum (n=6) or tuber cinereum and mamillary body (n=5). All lesions were isointense on T1-weighted image relative to normal gray matter, with a sessile attachment to the hypothalamus, and were not enhanced by Gadolinium. 5) Operations were done in 5 cases, those were subtotal removal of the tumor (n=4), and gamma knife radiosurgery (n=1). Seizures were not completely controlled in all but one case on which gamma knife radiosurgery was done. CONCLUSIONS: The hypothalamic hamartomas presented variable clinical pictures including gelastic seizure, precocious puberty, and behavioral and psychiatric disorders. The gelastic and other types of seizure associated with hypothalamic hamartomas were refractory to medication and might be controlled by total removal of the tumor.
Brain ; Electroencephalography ; Female ; Gadolinium ; Hamartoma* ; Humans ; Hypothalamus ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging* ; Male ; Mamillary Bodies ; Medical Records ; Neurologic Manifestations ; Neurons ; Puberty, Precocious ; Radiosurgery ; Retrospective Studies ; Seizures ; Seoul ; Spasms, Infantile ; Tuber Cinereum

The pituitary gland develops from two different parts of the brain. The anterior pituitary gland originates from the Rathke pouch and the posterior one from the infundibulum. Therefore, the pathologic findings of congenital hypopituitarism can be different in each case. Congenital hypopituitarism is a rare disorder. The characteristic clinical features of the affected newborns are prolonged jaundice, persistent or recurrent hypoglycemia without hyperinsulinism and microphallus. Their genitalia are usually underdeveloped and sexual maturation may be delayed or absent. In adulthood, patients retain childish feature, short stature with normal body proportion. We experienced a case of congenital hypopituitarism in a 12-year-old female patient with short stature and delayed sexual maturation(Tanner stageI). The endocrinological studies revealed growth hormone, FSH, LH and TSH deficiencies. Magnetic resonance imaging indicated a hypoplastic anterior pituitary and an ectopic posterior pituitary gland located within the tuber cinereum of the hypothalamus.
Brain ; Child ; Female ; Genitalia ; Growth Hormone ; Humans ; Hyperinsulinism ; Hypoglycemia ; Hypopituitarism* ; Hypothalamus ; Infant, Newborn ; Jaundice ; Magnetic Resonance Imaging ; Pituitary Gland ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior* ; Sexual Maturation ; Tuber Cinereum

The pituitary gland develops from two different parts of the brain. The anterior pituitary gland originates from the Rathke pouch and the posterior one from the infundibulum. Therefore, the pathologic findings of congenital hypopituitarism can be different in each case. Congenital hypopituitarism is a rare disorder. The characteristic clinical features of the affected newborns are prolonged jaundice, persistent or recurrent hypoglycemia without hyperinsulinism and microphallus. Their genitalia are usually underdeveloped and sexual maturation may be delayed or absent. In adulthood, patients retain childish feature, short stature with normal body proportion. We experienced a case of congenital hypopituitarism in a 12-year-old female patient with short stature and delayed sexual maturation(Tanner stageI). The endocrinological studies revealed growth hormone, FSH, LH and TSH deficiencies. Magnetic resonance imaging indicated a hypoplastic anterior pituitary and an ectopic posterior pituitary gland located within the tuber cinereum of the hypothalamus.
Brain ; Child ; Female ; Genitalia ; Growth Hormone ; Humans ; Hyperinsulinism ; Hypoglycemia ; Hypopituitarism* ; Hypothalamus ; Infant, Newborn ; Jaundice ; Magnetic Resonance Imaging ; Pituitary Gland ; Pituitary Gland, Anterior ; Pituitary Gland, Posterior* ; Sexual Maturation ; Tuber Cinereum