1/38. Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome.Idiopathic central hypoventilation has occasionally been reported in previously well children after infancy. The relationship between this late-onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventilation syndrome (CCHS) has not been established. Both CCHS and LO-CHS have been associated with neural crest tumors, such as ganglioneuroblastoma and ganglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies. We report on a case of LO-CHS/HD successfully treated by nasal intermittent positive pressure ventilation (NIPPV). Despite the commonalties with CCHS, we propose that LO-CHS/HD is a distinct clinical syndrome. In addition to the markedly different age at presentation, features of hypothalamic dysfunction are not seen in CCHS. review of the literature was undertaken to further clarify the full spectrum of the disease.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
2/38. Resection of a Langerhans cell histiocytosis granuloma of the hypothalamus: case report.The natural course and optimal treatment for isolated hypothalamic Langerhans cell histiocytosis (LCH) are unknown. We describe an adult female in whom total resection of a hypothalamic LCH granuloma was performed 12 years after transphenoidal resection of a pituitary adenoma. A retrospective review of the histological specimen of the first operation revealed CD1a positive cells characteristic of LCH along with a plurihormonal adenoma 12 years earlier. No other manifestations of LCH were found and MRI of the brain at the last follow-up 4 years after surgery did not show any recurrent or additional lesion. The diagnosis of isolated hypothalamic LCH is only possible by biopsy and our case demonstrates the feasability of a gross total resection in certain cases.- - - - - - - - - - ranking = 0.23369534115717keywords = brain (Clic here for more details about this article) |
3/38. Multiple system erdheim-chester disease with massive hypothalamic-sellar involvement and hypopituitarism.erdheim-chester disease (ECD) is a rare multiple system histiocytosis that is characterized pathologically by xanthogranulomatous infiltrates and radiologically by symmetrical sclerosis of long bones. The diagnosis is often confirmed by biopsy of bone or of orbital or retroperitoneal soft tissue. Intracranial involvement is rare. The authors report a case of ECD in which the diagnosis was made after biopsy of a hypothalamic mass. The mass had been discovered during a workup for panhypopituitarism in a 55-year-old man with urological and bone disease. Aside from diabetes insipidus, other features of pituitary insufficiency have seldom been reported and no patients have presented with a hypothalamic tumor. The endocrinological and neurological aspects of ECD are discussed, as is its differential diagnosis. Reported cases of the disorder associated with hypopituitarism or found during biopsy of central nervous system structures are also reviewed.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
4/38. hypopituitarism and diabetes insipidus with localized hypertrophic pachymeningitis (tolosa-hunt syndrome) associated with Hashimoto thyroiditis.We report a 69-year-old woman with intracranial pachymeningitis showing hypopituitarism, diabetes insipidus, and tolosa-hunt syndrome associated with Hashimoto thyroiditis confirmed by autopsy. A large tumorous lesion of the hypothalamo-pituitary gland was revealed on magnetic resonance imaging, after the patient complained of gait and visual field disturbance. These symptoms subsided after thyroid hormone supplementation. hypopituitarism and diabetes insipidus were diagnosed after cessation of the treatment by the patient herself. Multiple cranial nerve palsies and orbito-frontalgia appeared. methylprednisolone pulse therapy improved the symptoms, but they recurred when the dose of glucocorticoid was decreased. The patient died of brain thrombosis. autopsy revealed typical findings of Hashimoto thyroiditis and intracranial pachymeningitis involving the cranial base and pituitary gland. The high titer of rheumatoid factor and Hashimoto thyroiditis in this patient suggest an immunological role in the pathogenesis of pachymeningitis.- - - - - - - - - - ranking = 0.23369534115717keywords = brain (Clic here for more details about this article) |
5/38. Pediatric hypothalamic lipoma with hypothermia--case report.This case report describes a lipoma located in the pre-mamillary area that appeared in a 5-year-old child. The first symptom was very deep, transient hypothermia. Laboratory exams were normal. Diagnosis of a lipoma situated in the hypothalamic-mamillary area was made by brain MRI. The lipoma showed no signs of growth and hypothermia disappeared over the following 2 years. It is an unusual case of the body adapting to a new anatomic situation.- - - - - - - - - - ranking = 0.23369534115717keywords = brain (Clic here for more details about this article) |
6/38. Primary hypothalamic lymphoma with panhypopituitarism presenting as stiff-man syndrome.We report an unusual case of primary hypothalamic lymphoma with hypopituitarism presenting as Stiff-man syndrome (SMS). A 64-year-old man was hospitalized due to a 3-week history of general weakness, anorexia, vomiting, weight loss, and muscle pain and spasms precipitated by motion and tactile stimuli resulting in muscle stiffness and difficulty in mobility. physical examination revealed normal sensorimotor function and reflexes, except for bitemporal visual field defect. Routine laboratory and gastrointestinal examinations provided no remarkable clues. Endocrine assessment revealed low levels of morning cortisol, thyroxine, and anterior pituitary hormones but an increase in prolactin level. The patient's muscle pain and stiffness improved dramatically within 2 days after hydrocortisone therapy and thyroxine replacement. magnetic resonance imaging (MRI) of the brain confirmed an 18-mm enhancing hypothalamic tumor with optic chiasm involvement, which proved to be a B-cell lymphoma. The results of the extensive studies for systemic lymphoma were negative, suggesting a primary hypothalamic lymphoma. The tumor regressed completely and was invisible on MRI scan after adjuvant radiotherapy. The patient's condition was satisfactory and there was no recurrence of SMS during the 2-year follow-up period. This case demonstrated that primary hypothalamic lymphoma complicated with adrenal insufficiency may manifest as SMS. early diagnosis and prompt intervention can lead to a favorable outcome and reduce morbidity.- - - - - - - - - - ranking = 0.23369534115717keywords = brain (Clic here for more details about this article) |
7/38. Isolated vertical diplopia as the initial manifestation of presumed pretectal and anterior hypothalamic germinomas.A 21-year-old man with a 5-month history of diplopia caused by isolated vertical ocular misalignment had normal laboratory studies, including brain magnetic resonance imaging (MRI). Eight months after the onset of diplopia, he reported dry mouth, polydipsia, polyuria, and absent sweating. Examination now disclosed light-near dissociation of the pupillary responses, convergence-retraction nystagmus, and upgaze palsy. MRI revealed enhancing suprasellar and pretectal masses presumed to be germinomas. Two years after brain irradiation and systemic chemotherapy, no lesions are apparent on MRI and hypothalamic dysfunction has partially resolved. In a young patient with isolated vertical diplopia and normal brain imaging, one should consider an early pretectal syndrome and inquire after manifestations of hypothalamic dysfunction.- - - - - - - - - - ranking = 0.70108602347151keywords = brain (Clic here for more details about this article) |
8/38. Neonatal hypothalamic hamartoma: a differentiating nonlethal hamartoblastoma.The authors report on a patient with a large hypothalamic hamartoma with a cleft lip and palate and seizures. neuroimaging revealed a large extraaxial, intradural mass in the prepontine and interpeduncular cisterns with significant distortion of the brainstem. A stereotactic transfontanel needle biopsy revealed a cellular lesion that contained immature-appearing neuroepithelial cells consistent with prior descriptions of hypothalamic hamartoblastoma. While having a low level of proliferation by Ki67 (MIB-1) labeling, the lesion also contained evidence of neuronal maturation, with many cells expressing neuronal nuclear antigen as observed during immunohistochemical analysis. Further clinical evaluation revealed no other significant congenital abnormalities, and the patient was discharged home. Outpatient follow up has continued for 2 years and the patient has been doing well, requiring no further treatment. This case illustrates that, despite its immature and proliferative histological appearance, this rare neonatal mass can be regarded as a "differentiating" hypothalamic hamartoma and can have a favorable prognosis.- - - - - - - - - - ranking = 0.23369534115717keywords = brain (Clic here for more details about this article) |
9/38. Intracranial retrograde dissemination in filum terminale myxopapillary ependymomas.Myxopapillary ependymomas (ME) are considered benign tumours (WHO grade I) of the central nervous system with long term survival rates and a tendency to local recurrence. However an aggressive course has occasionally been described, leading to CSF dissemination and even systemic metastases. We describe the case of a 23-year-old man diagnosed with intracranial subarachnoid dissemination of a filum terminale ME three years after the initial diagnosis. We have performed a careful review of the literature on CSF dissemination in ME and finally propose treatment of these cases.- - - - - - - - - - ranking = 1keywords = central nervous system, nervous system (Clic here for more details about this article) |
10/38. Gelastic epilepsy. A clinical contribution.Gelastic (laughing) epilepsy, relatively uncommon, is usually associated with hypothalamic hamartomas, pituitary tumors, astrocytomas of the mammillary bodies, and dysraphic conditions. Cases of unknown etiology are rare. In three of the four cases reported here, the diagnoses were hamartoma of the tuber cinereum; lobar holoprosencephaly; and lissencephaly type I, grade 2. In the fourth, radiographic investigation gave a normal result; a genetic etiology was suggested because of bilateral familial idiopathic epilepsy. In all patients, EEGs showed both focal spikes and generalized spike-and-wave discharges. The primary underlying neurophysiologic disorder may be provoked by the diffuse hyperexcitability of the cortex and subsequent firing of the thalamocortical networks with which the cortical brain is reciprocally interlinked.- - - - - - - - - - ranking = 0.23369534115717keywords = brain (Clic here for more details about this article) |
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