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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hypothalamic hamartomas are rare tumours of particular interest because of their unusual symptoms. Three cases of hypothalamic hamartomas are reported in children, who presented with precocious puberty and gelastic seizures.
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PMID:MR imaging features in hypothalamic hamartoma: a report of three cases and review of literature. 1073 42

Hamartoma of the hypothalamus represents a well-known but rare cause of central precocious puberty and gelastic epilepsy. Due to the delicate site in which the tumor is located, surgery is often unsuccessful and associated with considerable risks. In the two cases presented, gamma knife radiosurgery was applied as a safe and noninvasive alternative to obtain seizure control. Two patients, a 13-year-old boy and a 6-year-old girl, presented with medically intractable gelastic epilepsy and increasing episodes of secondary generalized seizures. Abnormal behavior and precocious puberty were also evident. Magnetic resonance (MR) imaging revealed hypothalamic hamartomas measuring 13 and 11 mm, respectively. After general anesthesia had been induced in the patients, radiosurgical treatment was performed with margin doses of 12 Gy to 90% and 60% of isodose areas, covering volumes of 700 and 500 mm3, respectively. After follow-up periods of 54 months in the boy and 36 months in the girl, progressive decrease in both seizure frequency and intensity was noted (Engel outcome scores IIa and IIIa, respectively). Both patients are currently able to attend public school. Follow-up MR imaging has not revealed significant changes in the sizes of the lesions. Gamma knife radiosurgery can be an effective and safe treatment modality for achieving good seizure control in patients with hypothalamic hamartomas.
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PMID:Gamma knife radiosurgery for hypothalamic hamartomas in patients with medically intractable epilepsy and precocious puberty. Report of two cases. 1076 69

Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to PTH resistance. PHP type Ia is due to diminished G(s)alpha activity in several tissues, causing resistance to hormones whose action is mediated by cAMP. Only two cases of males with PTH type Ia who paradoxically showed sexual precocity have been described in the literature. We describe an 11.5 year-old boy affected by PHP without AHO but with associated true precocious puberty, who came to the I.C.U. for tetanic seizures and drowsiness due to severe hypocalcemia. Hyperphosphatemia, increased PTH levels and normal 25-OH-vitamin D values were present. Skeletal X-ray showed mild osteopenia. Brain MRI revealed symmetric calcifications in basal ganglia and in frontal areas. Thyroid and thyreotropinic function were normal. Testosterone levels were in the adult range, as well as basal and stimulated gonadotropin levels. Tanner stage P4, G4; testicular volume 12-15 mi. Molecular cytogenetics studies are now underway to further elucidate the etiology of this form of PHP.
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PMID:Gonadotropin-dependent sexual precocity in a boy affected by pseudohypoparathyroidism. 1096 32

Patients with hypothalamic hamartomas and precocious puberty may develop gelastic seizures that are resistant to conventional antiepileptic drug therapies. While treating precocious puberty in two such patients with long-acting GnRH analogue, the authors observed cessation of gelastic seizures. Although the mechanism is unclear, long-acting GnRH analogue should be considered as a possible therapy for gelastic seizures in patients with hypothalamic hamartomas.
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PMID:Successful treatment of hypothalamic seizures and precocious puberty with GnRH analogue. 1113 95

Hypothalamic hamartoma are rare lesions. We report a new series of eight patients treated for precocious puberty (six cases) or gelastic seizures (two cases). Surgical resection was total in four cases (three pediculated and one sessile). Precocious puberty was controlled by surgical treatment in all cases. Gelastic seizures were controlled by medical treatment, but the patients did not become seizure free. We observed no mortality and no endocrinological or visual morbidity. The fact that a vascular "rete mirabilis" was observed on the surface of the lesion in our surgical material is an argument favoring a vascular mechanism in precocious puberty. Coagulation of this vascular structure can help control precocious puberty. Our series confirms that the hypothalamic hamartoma can be surgically treated when patients fail to respond to medical treatment, when the length of the treatment cannot be tolerated by the chidren and their families, and when there are uncontrolled gelastic seizures
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PMID:Hypothalamic hamartoma: the role of surgery in a series of eight patients. 1139 42

Hypothalamic hamartomas are non neoplastic lesions that may cause precocious puberty with or without complex seizures, personality disorders and mental retardation. We report a 14 years old male that had a precocious puberty at the age of 11 and a prolonged episode of altered sensorium with automatism, that was diagnosed as a complex seizure. Physical examination showed a sexual development classified as Tanner stage III-IV, a height of 168 cm and a weight of 61 kg. Neurological examination was normal. A CAT scan showed a 13 x 13 x 9 mm mass in the suprasellar cistern, between the infundibulum and the brain stem, without exerting a mass effect over adjacent structures. It was diagnosed as an hypothalamic hamartoma.
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PMID:[Hypothalamic hamartoma causing precocious puberty: A case report]. 1177 45

A 6 year-old boy presented with peripheral precocious puberty and was diagnosed as having simple virilizing 21-hydroxylase deficiency based on clinical features and elevated 17-hydroxyprogesterone levels on ACTH stimulation. He was managed with glucocorticoids and mineralocorticoids. Two years later he presented with features of CNS involvement in the form of seizures and raised intracranial pressure with rapid progression of puberty. Contrast enhanced CT scan of brain showed an intraventricular tumor with cerebrospinal fluid cytology suggestive of germinoma. Serum and CSF levels of human chorionic gonadotropin (hCG) and alphafetoprotein (AFP) were elevated, confirming the diagnosis of germinoma.
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PMID:CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty. 1192 7

Astroglial-derived factors, as transforming growth factor (TGF)alpha and TGFbeta, act in the hypothalamus to activate luteinizing hormone-releasing hormone (LHRH) secretion. Hypothalamic hamartomas (HHs) contain normal nervous tissue in a heterotopic location. When symptomatic, they cause precocious puberty and/or characteristic gelastic seizures. Thus far, the pathogenesis of these alterations remains unknown. By examining two HHs associated with sexual precocity, we found that they contained astroglial cells expressing TGFalpha, but no LHRH neurons. In a third patient with HH, only epilepsy was present, but precocious puberty developed shortly after surgery, probably as a consequence of a surgery-induced lesion. These results imply that some HHs induce sexual precocity by activating endogenous LHRH secretion via astroglial-derived factors.
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PMID:Pathogenesis of precocious puberty in hypothalamic hamartoma. 1206 23

Hypothalamic hamartomas are nonneoplastic lesions often characterized by central precocious puberty and gelastic epilepsy. Due to the delicate location surgery is often unsuccessful and associated with considerable risks. In the presented series, Gamma Knife radiosurgery was applied. Four cases (aged between 5-13 years) who presented with medically intractable gelastic epilepsy and increasing secondary generalization, abnormal behaviour and precocious puberty (3 cases) are reported. Hypothalamic hamartomas sized 11-17 mm had been diagnosed by MR imaging. Radiosurgical treatment was performed in general anaesthesia with margin doses of 12-14 Gy to the 50-90% isodoses covering volumes of 600-2300 mm3. After follow-up periods of 12 to 68 months, a continuing decrease both in seizure frequency and intensity was noted (outcome according to Engel: II a (3 cases) and III a (1 case)). All patients are socially reintegrated. MR imaging did not reveal significant changes concerning the size of the lesions. Gamma Knife radiosurgery can be an effective and safe alternative treatment modality for HH capable of achieving good seizure control and improving behavioural disorders in selected cases.
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PMID:Stereotactic radiosurgery for hypothalamic hamartomas. 1237 5

The objective of this study was to evaluate the clinical and endocrine profile of patients with precocious puberty followed up in a tertiary care hospital. Records of 140 patients (114 girls, 26 boys) with precocious puberty were reviewed. Clinical features including age of onset, stage of pubertal development, presenting symptoms, features suggestive of CNS involvement and family history were analyzed. Endocrine investigations included basal and GnRH-stimulated levels of LH and FSH as well as 17OHP, DHEA, hCG and thyroid profile. Abdominal and pelvic ultrasonography and CNS imaging were correlated with clinical features. Girls outnumbered boys in this series (4.4:1). Neurogenic central isosexual precocious puberty (CIPP) was more common in boys (10 out of 18, 55.6%) than girls (16 out of 77, 20.8%). The most common cause of neurogenic CIPP was hypothalamic hamartoma present in five girls and four boys. Other causes of neurogenic CIPP included neurotuberculosis, pituitary adenoma, hydrocephalus, post radiotherapy, CNS tumors and malformations. Peripheral precocious puberty (PPP) was secondary to adrenal causes in boys and ovarian cysts in girls. Benign variants of precocious puberty, such as premature thelarche and premature adrenarche, were present in 23 and six girls, respectively. Hypothyroidism was present in four girls and McCune-Albright syndrome in one girl. Girls with neurogenic CIPP had a lower age of onset as compared to idiopathic CIPP (3.6 +/- 2.7 years vs 5.4 +/- 2.5 years, p = 0.014). The lowest age of onset was seen in girls with hypothalamic hamartoma (1.6 +/- 0.9 years). Forty-seven girls with CIPP (seven neurogenic and 40 idiopathic) presented after the age of 6 years. Features of CNS involvement, in the form of seizures, mental retardation, raised intracranial tension or focal neurological deficits, were present in seven girls (43.8%) and four boys (40%), and gelastic seizures were present in three children. Girls with CIPP had greater bone age advancement (3.4 +/- 1.5 years) and negative height standard deviation for bone age (-2.7 +/- 1.5) than those with PPP (1.9 +/- 1.6 years and -1.3 +/- 1.3) and premature thelarche (0.4 +/- 0.4 years and -0.8 +/- 0.8). Patients with neurogenic CIPP had significantly higher levels of baseline and GnRH-stimulated levels of LH and FSH and LH:FSH ratio than those with idiopathic CIPP. Occurrence of neurogenic CIPP in seven girls with an age of onset after 6 years emphasizes the need for CNS imaging in these girls contrary to the current recommendations. The fact that 65.6% cases of idiopathic CIPP presented after the age of 6 years raises the possibility that these patients may be physiological variants of normal puberty. Pointers to neurogenic CIPP included early age of onset in girls, clinical features of CNS involvement, and elevated basal and stimulated LH levels and LH:FSH ratio.
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PMID:Precocious puberty: clinical and endocrine profile and factors indicating neurogenic precocity in Indian children. 1238 16


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