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[A case of hypothalamic hamartoma with gelastic seizures, precocious puberty, poly- and syndactyly].

We reported a 6-month-old boy, patient of hypothalamic hamartoma with a rare association of poly- and syndactyly, which developed gelastic seizures and precocious puberty. His birth was complicated by poly- and syndactyly in both hands and polydactyly in both feet, but other physical signs were normal. At 5 month of age, he visited our hospital because of a suspected seizure. On admission, physical and neurological examinations revealed increased size in penis and testes, and delayed psychomotor development. Gelastic seizures occurred up to 100 times a day, and were resistant to many anticonvulsants. Ictal EEG showed bursts of generalized high voltage slow waves. His serum LH and testosterone levels were elevated for his age. Brain CT and MRI demonstrated a hypothalamic mass lesion, which proved to be hamartoma by biopsy.

Epilepsy↗

Symptomatic osteolipoma of the tuber cinereum.

Intracranial osteolipomas are rare lesions which occur in the region of the tuber cinereum. All cases reported to date have been incidental autopsy findings. We describe a patient who presented with a variety of neurological symptoms and had a typical osteolipoma surgically removed.

Adult↗

Progressive cerebral occlusive disease after hypothalamic astrocytoma radiation therapy.

An 18 year-old woman received radiation therapy for hypothalamic astrocytoma at the age of 11 years. She developed progressive cerebral occlusive vascular disease with moyamoya vessels formation in both carotid systems. Apart from diabetes mellitus, she had no other risk factors for occlusive cerebrovascular disease. The site of occlusion was confined to the field of radiation and the development of moyamoya vessels strongly suggestive of a radiation-induced cause. Radiation therapy around the sella and parasellar region appears to be the most common risk factor for this vasculopathy. Progressive irradiation-induced cerebral vasculopathy is due to accelerated atherosclerosis.

Adolescent↗

[Langerhans cell histiocytosis in the hypothalamus: a case report].

A case of Langerhans cell histiocytosis (LCH) in the hypothalamus is presented. A 52 year old man with eosinophilic granuloma of the lung was referred to our hospital. He complained of headache, easy fatigability, high fever, and voiding large quantities of urine, but was otherwise asymptomatic. T1-weighted images demonstrated a small mass in the hypothalamus. After about six months, the mass had grown to 2 cm in diameter. Surgery was performed by a pterional approach and a biopsy specimen was collected. Light microscopic examination of sections of the biopsy specimen showed polymorphous cellular infiltration by histiocytic cells, eosinophils, neutrophils, and lymphocytes. Electron microscopy showed Langerhans cells and Birbeck granules in the cytoplasm. The histological diagnosis was LCH, multifocal type. After low-dose radiation therapy, the mass gradually decreased in size. The clinicopathological features, neuroradiological findings, and treatment are briefly discussed.

Combined Modality Therapy↗

[Gelastic seizures treated by partial resection of a hypothalamic hamartoma].

A 13-year-old girl developed atonic seizure at 2 years of age. At the age of 10 years, gelastic seizures were noted. Magnetic resonance imaging (MRI) revealed a hypothalamic mass protruding down into the basal cistern and up into the third ventricle. An interictal electroencephalogram (EEG) showed paroxysmal spike and wave complex discharges. Since the seizures failed to respond to medical therapy, it was decided to try to control them by removing the mass. The operation was carried out through an interhemispheric trans-lamina terminalis approach. The lesion was so similar to normal brain tissue that the resection had to be limited enough to avoid complications. Histological examination of the mass showed a hamartoma. Postoperative MRI showed residual mass, but no seizure has been noted since the operation. The EEG recorded one year after the operation showed no spike and wave complex discharge, although she was still on anticonvulsant drugs. The authors propose that surgical therapy should be considered as a treatment for intractable gelastic epilepsy with hypothalamic hamartoma and that the first operation should be conservative enough to avoid complications, because it can bring about good results even if it is only a partial resection.

Adolescent↗

Hypothalamic juvenile pilocytic astrocytoma presenting with intracerebral hemorrhage.

Hemorrhage of juvenile pilocytic astrocytomas is very rare. However, it is clinically important because a high probability of a fatal outcome exists if hemorrhage occurs outside the optic nerve. Hemorrhage of a hypothalamic juvenile pilocytic astrocytoma has been reported only once, from an autopsy examination. We present a successfully managed case. The patient, a 34-year-old man, presented with sudden loss of consciousness. Computed tomography (CT) and magnetic resonance imaging demonstrated an exophytic hypothalamic tumor with a hemorrhage. Craniotomy with total removal of the tumor and the hematoma was performed. Histopathologic examination revealed that the tumor was a juvenile pilocytic astrocytoma. Brain CT examination 18 months later revealed no evidence of tumor recurrence. The patient was well, without neurologic deficit, and had a normal social life as of the last follow-up examination 22 months after craniotomy.

Adult↗

Endocrinology of testicular neoplasms.

The hypothalamic-pituitary-testicular axis finely regulates levels of circulating sex steroids--especially testosterone and estradiol--and spermatogenesis. Testosterone, directly as an androgen and as a prehormone for estradiol, regulates LH secretion at both hypothalamic and pituitary levels. Leydig cells, principally under the control of LH, produce testosterone. Sertoli cells, under the control of FSH, and sensitive to intratesticular levels of testosterone, produce estradiol. This locally produced estrogen seems to be necessary for maturation of the germ cells. An abnormality in this sensitive control system, leading to elevations in gonadotrophins or steroid levels, may be etiologically important in both germ cell and nongerm cell neoplasia. Testicular cancers are associated frequently with endocrinologic manifestations, which may be more disabling to the patient than the malignant potential of the tumor, especially with childhood Leydig cell tumors. Estrogen dominance with an elevated estrogen/testosterone ratio can be seen in any testicular neoplasm and may result in gynecomastia. It may be due to a decrease in circulating testosterone or to an increase in estrogens. Virilization is seen frequently in Leydig cell tumors of adolescents. Further elucidation of hormonal interrelationships should lead to better understanding of the genesis of testicular neoplasia and to more effective therapy.

Animals↗

MR imaging of the sellar and juxtasellar regions.

Multiplanar capability and superior tissue contrast differentiation render magnetic resonance (MR) imaging the preferred method for examining patients with pituitary axis dysfunction or visual field deficits. In a review of 131 sellar or juxtasellar abnormalities, 76% were common lesions with distinctive features that helped establish their diagnosis: macroadenoma (n = 51), microadenoma (n = 20), meningioma (n = 14), craniopharyngioma (n = 10), and aneurysm (n = 5). On T1-weighted images, microadenomas were usually hypointense relative to normal pituitary gland, and macroadenomas and meningiomas were isointense relative to gray matter. Both microadenomas and meningiomas were more conspicuous immediately after contrast material administration. Craniopharyngiomas were the most heterogeneous of all the sellar lesions due to their cystic and solid components. MR images of aneurysms showed flow void and heterogeneous increased signal intensity in areas of slower turbulent flow. Other characteristics such as extrasellar versus intrasellar location, nature of contrast material enhancement, the presence of cystic components, and clinical findings permitted differentiation among less common lesions, including granulomatous disease, metastases, chiasmatic glioma, arachnoid cyst, hypothalamic glioma, schwannoma, germinoma, epidermoid, Rathke cyst, chordoma, chondrosarcoma, colloid cyst, and hamartoma.

Adult↗

Laughing seizures due to a midline intraventricular neoplasm in tuberous sclerosis.

Laughing seizures have been described in association with hypothalamic hamartomas and precocious puberty. Laughing seizures due to a neoplasm arising from the floor of the left lateral ventricle extending down towards the hypothalamus in a child with tuberous sclerosis is reported. This combination has not been reported before and emphasises the importance of imaging to diagnose such midline lesions in children with paroxysmal laughing.

Humans↗

Surgical management of exophytic chiasmatic-hypothalamic tumors of childhood.

Sixteen children underwent 18 operations for radical resection of chiasmatic-hypothalamic tumors. The clinical presentation correlated with age: infants under 1 year of age presented with macrocephaly, failure to thrive, and severe visual failure; children aged 1 to 5 years predominantly had precocious puberty with mild visual deficits; and older children (greater than 5 years old) had slowly progressive loss of vision. All three infants had biologically aggressive tumors in spite of low-grade histology, and died from progressive tumor growth. Eleven of the 13 children aged 1 year or over are alive and well, without clinical or radiographic evidence of disease progression, 4 months to 4 1/2 years following surgery. Six of these patients, with a follow-up period of 10 months to 4 1/2 years (mean 27 months), have had no adjuvant therapy following radical surgical resection. The authors conclude that: 1) radical surgical resection of chiasmatic-hypothalamic tumors can be performed with minimal morbidity; 2) radical resection may delay the time to disease progression in older children and postpone the need for irradiation; 3) resection of postirradiation recurrent tumors may provide neurological improvement and long-lasting clinical remission; and 4) chiasmatic-hypothalamic tumors of infancy are aggressive neoplasms that require multimodality therapy.

Adolescent↗