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PubMed2006

Hypernatremic myopathy caused by a hypothalamic mixed germ cell tumor mimicking polymyositis.

Hypernatremic myopathy was rarely reported in the literature and its clinical features have never been well-described. We present a 22-year-old man who had adipsic hypernatremia manifested with progressive proximal muscle weakness and remarkably high creatine kinase level that has never been reported in the cases of hypernatremic myopathy. His initial presentations were similar to that of polymyositis without the evidence of central nervous system dysfunction and hypopituitarism. The serum level of sodium at the beginning of myopathy is the lowest known in the literature. All the clinical presentations in this patient resulted from a hypothalamic mixed germ cell tumor with sub-acute intra-tumoral hemorrhage.

Adult↗
PubMed2006

Melatonin treatment in obese patients with childhood craniopharyngioma and increased daytime sleepiness.

Craniopharyngioma is a rare dysontogenetic benign tumor. Patients frequently suffer from endocrine deficiencies, sleep disturbances and obesity due to pituitary and hypothalamic lesions. A self-assessment daytime sleepiness questionnaire (German version of the Epworth Sleepiness Scale [ESS]) was used to evaluate 79 patients with childhood craniopharyngioma. Because hypothalamic lesions may explain daytime sleepiness in craniopharyngioma patients, salivary melatonin and cortisol concentrations were examined in severely obese (BMI>or=4SD) and non severely obese (BMI<4SD) craniopharyngioma patients (n=79), patients with hypothalamic pilocytic astrocytoma (n=19), and control subjects (n=30). Using a general linear model procedure analyzing the influence of BMI and tumor diagnosis on diurnal salivary melatonin we found that morning salivary melatonin levels were related to BMI (F test: p-value=0.004) and tumor diagnosis (F-test: p-value=0.032). Also for nighttime salivary melatonin levels significant relations with BMI (p-value in F-test: <0.001) and tumor diagnosis (p-value in F-test: 0.025) were detectable. Melatonin concentrations in saliva of craniopharyngioma patients collected at nighttime or in the morning showed a negative correlation (Spearman's rho: -0.42; p=0.001; Spearman's rho: -0.31; p=0.020) with the patient's ESS score. Severely obese craniopharyngioma patients and severely obese hypothalamic tumor patients had similar patterns of melatonin secretion. Differences in terms of diurnal salivary cortisol concentrations were not detectable when patient groups and controls were compared. As decreased nocturnal melatonin levels were associated with increased daytime sleepiness, BMI and hypothalamic tumor diagnosis, we initiated an experimental melatonin substitution in 10 adult obese patients (5f/5m) with childhood craniopharyngioma. In all 10 patients with childhood craniopharyngioma the degree of daytime sleepiness significantly improved based on activity diaries, ESS, self assessment questionnaires and actimetry. We speculate that hypothalamic lesions might be responsible for both obesity and daytime sleepiness. As first experiences with experimental melatonin substitution were promising, further randomized double-blinded studies on the beneficial effects of melatonin substitution on daytime sleepiness and weight control in these patients are warranted.

Adolescent↗
PubMed2006

The pilomyxoid astrocytoma and its relationship to pilocytic astrocytoma: report of a case and a critical review of the entity.

Pilomyxoid astrocytoma (PMA) is a rare glioma that shares histopathological similarities with pilocytic astrocytoma (PA). Yet, typical examples of both can be distinguished on clinical and histological grounds. The reported aggressive behavior of PMA provides a rationale for distinguishing this entity from typical PA. We report a 6(1/2) -year-old girl who had suffered poor weight gain, irritability and progressively worsening abnormal eye movements since approximately 2 months of age. Radiographic studies at 6 months of age (age at initial presentation) revealed a large hypothalamic lesion occupying proximal portions of the optic nerves, chiasm and right posterior optic tract. The first biopsy obtained after two chemotherapy regimens was consistent with a diagnosis of PMA. The patient suffered multiple recurrences, and underwent three subsequent surgical procedures. The last two surgical specimens revealed a tumor with histopathological features of PA. She is alive with residual disease 6 years after initial presentation. While earlier studies focused on the similarities between PA and PMA, considering the latter as the "infantile" form of the former, subsequent work outlined their histological and clinical differences. Some even suggested a different cell type, such as the tanycytic cell as the origin for PMA. This report provides evidence in favor of the earlier argument that there is a close relationship between PA and PMA, and presents a rare "maturation" phenomenon, at least from a morphological perspective. More systematic review of such cases will provide a better answer for the origin of PMA, and its relation to PA.

Astrocytoma↗
PubMed1991

Radioimmunoassay of growth hormone-releasing hormone (GHRH) with a polyclonal antibody against synthetic GHRH(1-29)-Gly4-Cys-NH2: method and clinical studies.

A radioimmunoassay (RIA) for growth hormone-releasing hormone (GHRH) using a polyclonal antibody against synthetic GHRH(1-29)-Gly4-Cys-NH2 has been developed. The antiserum (RBM105) showed full cross-reactivity with GHRH-(1-44)NH2, GHRH-(1-40)OH, GHRH-(1-37)OH and GHRH-(3-44)NH2, and probably recognized the region of Ala4 to Lys12 of GHRH. Since the sensitivity of the GHRH RIA was 1.5 pg/tube, the lowest detectable plasma level was 5 ng/l when an extract of 0.3 ml of plasma per tube was used. On gelfiltration chromatography, the GHRH immunoreactivity of normal plasma was eluted in the same position as synthetic GHRH. The plasma GHRH concentration in healthy subjects was 20.5 +/- 6.5 ng/l (mean +/- SD), and in patients with hypothalamic disorders was 17.4 +/- 2.0 ng/l. In contrast, the plasma GHRH level in hemodialysis-dependent, chronic renal failure (CRF-HD) patients (38.7 +/- 13.1 ng/l) was significantly higher than normal. The acromegalic patients were 24.3 +/- 11.9 ng/l, except for one patient with ectopic GHRH syndrome (990 ng/l): his plasma GHRH level reached 7,100 ng/l during operation, and then decreased logarithmically to 70 ng/l after 6 h. Somatostatin at concentrations of 10 and 1,000 nmol/l significantly suppressed (GHRH release) from primary culture cells of the GHRH-producing tumor from 17.3 +/- 0.92 ng/2 x 10(5) cells to 9.98 +/- 3.61 and 4.32 +/- 1.01 ng/2 x 10(5) cells, respectively after 48 h. These data indicate that this GHRH RIA is useful for determining the plasma GHRH concentration in normal and diseased states and also for in vitro studies of GHRH release.

Acromegaly↗
PubMed1994

Hypernatremic myopathy.

We describe a 21-year-old man presenting with proximal muscle weakness associated with hypernatremia. His manifestations other than muscle weakness included dry skin, loss of axillary and pubic hair, decreased libido and loss of thirst sensation. His serum sodium level was elevated to 169-171 mEq./l but all other electrolytes were normal. In addition, serum CK was elevated and an EMG study showed myogenic changes. Endocrinological studies revealed hypothalamic hypopituitarism, while MRI revealed a suprasellar mass. A partial correction of hypernatremia led to an immediate recovery of the muscle weakness as well as a normalization of both the serum CK level and EMG findings, suggesting a direct association between the muscle weakness and hypernatremia. The phosphocreatine/inorganic phosphorus (PCr/Pi) ratios in the resting calf muscle, obtained using 31P magnetic resonance spectroscopy (MRS), were very low during the state of muscle weakness, while they returned to nearly normal values after clinical improvement, suggesting that the muscle weakness in hypernatremic state was caused by a depletion of the intramuscular energy stores, probably due to an overworking Na-K pump to correct the intracellular electrolyte imbalance.

Adult↗
PubMedDate not supplied

Spasmus nutans--or is it?

At age 3 1/2 years a child developed what appeared to be classic spasmus nutans. Thorough discussions as to the propriety of neuroimaging studies in such patients are presented. With this late age of onset, the presence of a compressive lesion was suspected and neuroimaging demonstrated a sellar-suprasellar mass lesion.

Astrocytoma↗
PubMed1987

Hypothalamic glioma.

Seven patients from a series of 400 parasellar lesions presenting with visual failure treated in the Gough-Cooper Department of Neurological Surgery, The National Hospital for Nervous Diseases, Queen Square, were found to have low-grade gliomas of the hypothalamus. All were retrochiasmatic in site. The median age was 18 years. All showed low-grade astrocytoma, grade 2 and, in 6 of the 7 cases, presentation was with a variety of visual problems including homonymous hemianopia, bitemporal hemianopia, and unilateral scotomata. The other case presented with papilledema. Skull x-rays were, by and large, normal. Computed tomography scanning showed low- or mixed-density midline lesions and angiography showed mass effect and occasionally a capsular blush. All were operated on directly through a variety of approaches, and in each case, a radical subtotal removal was carried out. Postoperatively there were no major complications and no major worsening of symptoms in any patient. Radiotherapy was applied in 6 of the 7 cases. Follow-up periods range from 6 months to 6 years and 5 of the 7 patients remain well. The other 2, who are surviving, have advancing neurological disturbance.

Adolescent↗
PubMed1988

The hypothalamic anterior pituitary relationships and their tumors. A review.

The hypothalamic pituitary axis is reviewed in relation to the regulation of the secretion of prolactin, growth, and adrenocorticotrophic hormones by the anterior pituitary lactotrophic, somatotrophic, and corticotrophic cells, respectively. The signs and symptoms, diagnosis, and treatment of tumors arising from these three separate anterior pituitary cells are discussed in the context of current literature.

Adrenocorticotropic Hormone↗
PubMed1986

Neuroradiologic findings of hypothalamic hamartoma with emphasis on computed tomography.

Hypothalamic hamartoma is a relatively rare congenital malformation. Five new cases and 31 cases in the literature were evaluated in regard to neuroradiologic findings with emphasis on computed tomography. Five important computed tomography findings were observed: oval-shaped, isodense suprasellar mass; clear demarcation; no enhancement effect; absence of cystic component or calcification; and no effacement of the third ventricle. Clinical features, mechanism of the precocious puberty, and differential diagnosis are also discussed.

Child↗
PubMed1977

Diagnosis of sellar and parasellar lesions by computed tomography and other diagnostic modalities.

A review of 5,000 computed tomographic (CT) brain scans revealed 76 patients with proved pathology involving the sellar and parasellar areas. The overall diagnostic accuracy of CT scanning was 93.4%, whereas the accuracy of isotope scanning, angiography, and pneumoencephalography was 55.4, 81 and 100% respectively. The criteria used in making the diagnosis with CT scanning are listed. The results indicate that CT scanning is the initial diagnostic procedure of choice, but that other modalities, particularly angiography, are still required for more accurate evaluation in the majority of cases.

Cerebral Angiography↗
PubMedDate not supplied

MRI findings of hypothalamic hamartoma: report of five cases and review of the literature.

Hypothalamic hamartoma is a relatively rare congenital malformation, associated with the clinical presentation of precocious puberty of central type. Five cases with hypothalamic hamartoma are reported here, with an emphasis on MR appearance. The most common presentation of hypothalamic hamartoma was a small and well defined mass in the inferior aspect of the hypothalamus, showing isointensity on T1 weighted images and hyperintensity on T2 weighted images compared with the gray matter. The previous reports with MRI description are reviewed and compared with the present results.

Child, Preschool↗