Introduction: Hypernatremia is a common yet high-mortality electrolyte disorder. The hypothalamus maintains water homeostasis via thirst sensation and arginine vasopressin (AVP) secretion. Hypothalamic tumors, such as gliomas, can progressively destroy these osmoregulatory centres, leading to “malignant” hypernatremia (>180 mmol/L). We report a case of life-threatening hypernatremia in a patient with a progressive hypothalamic glioma, exploring its complex pathophysiology. Case: A 41-year-old female with a progressive high-grade hypothalamic glioma and persistent hydrocephalus presented with generalized weakness, reduced oral intake, and dehydration. Her initial Glasgow Coma Scale was E4V3M6. Laboratory investigations revealed malignant hypernatremia (serum sodium 209 mmol/L) and a serum osmolarity of 441 mOsm/kg. Despite life-threatening dehydration (urea 26.2 mmol/L, creatinine 343 umol/L), she was still able to deceptively produce urine output of 400 mL/day with a concentrated urine osmolarity of 890 mOsm/kg. A 1 mcg IV desmopressin trial reduced urine output to 60 mL/day and serum sodium by 10 mmol/L within 14 hours, confirming relative AVP deficiency. The patient’s malignant hypernatremia was gradually corrected to 168 mmol/L over 1 week (8–12 mmol/L/day) using controlled intravenous hydration. However, her condition deteriorated due to hospital-acquired infection, and she succumbed 10 days after admission. Conclusion This case underscores several critical learning points for managing hypothalamic emergencies. First, hypothalamic tumors can reset the osmostat or destroy osmoregulatory centres, causing adipsic AVP deficiency. Second, clinicians must be alert to “masked polyuria” where severe hypovolemia reduces the glomerular filtration rate, causing urine output to appear “normal” despite underlying AVP deficiency. This state of “relative polyuria” is a hallmark of hypothalamic hypernatremia, thus indicating that a normal urine output does not rule out AVP deficiency. While desmopressin is indicated, its use in adipsic patients demands strict fluid titration to prevent iatrogenic hyponatremia. Rapid hypotonic correction carries a proven risk of cerebral oedema, and sodium measurement accuracy varies significantly across laboratory methods in extreme ranges.
Hypernatremia ; Hypothalamic Neoplasms

Extra ventricular neurocytoma (EVN) is a rare brain tumor with histologic features similar with a central neurocytoma, but located outside of the ventricular system. In this study, we present an unusual case of hypothalamic EVN in a 14-year-old patient. The patient underwent subtotal removal and had tumor relapse. The patient was then treated using intensity modulated radiation therapy, and the tumor remained stable for 24 months. This case report may be important in that this is the first pediatric case of EVN located in the hypothalamic region. EVN has similar radiologic features with pilocytic astrocytomas and therefore a hypothalamic EVN may be misdiagnosed as a hypothalamic glioma. Also, the pathologic-radiologic-clinical correlation of EVN located in the hypothalamic area may be different from that of EVNs originating from other usual sites.
Adolescent ; Astrocytoma ; Brain Neoplasms ; Glioma ; Humans ; Hypothalamic Neoplasms ; Neurocytoma* ; Radiotherapy, Adjuvant* ; Recurrence

Extra ventricular neurocytoma (EVN) is a rare brain tumor with histologic features similar with a central neurocytoma, but located outside of the ventricular system. In this study, we present an unusual case of hypothalamic EVN in a 14-year-old patient. The patient underwent subtotal removal and had tumor relapse. The patient was then treated using intensity modulated radiation therapy, and the tumor remained stable for 24 months. This case report may be important in that this is the first pediatric case of EVN located in the hypothalamic region. EVN has similar radiologic features with pilocytic astrocytomas and therefore a hypothalamic EVN may be misdiagnosed as a hypothalamic glioma. Also, the pathologic-radiologic-clinical correlation of EVN located in the hypothalamic area may be different from that of EVNs originating from other usual sites.
Adolescent ; Astrocytoma ; Brain Neoplasms ; Glioma ; Humans ; Hypothalamic Neoplasms ; Neurocytoma* ; Radiotherapy, Adjuvant* ; Recurrence

PURPOSE: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. METHODS: We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. RESULTS: Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18+/-10.5 months, and diagnosis after symptom onset was made at the mean age of 11+/-9.7 months. The mean z score was -3.15+/-1.14 for weight, -0.12+/-1.05 for height, 1.01+/-1.58 for head circumference, and -1.76+/-1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. CONCLUSION: Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.
Astrocytoma ; Brain Neoplasms ; Central Nervous System ; Central Nervous System Neoplasms ; Diagnosis ; Diarrhea ; Drug Therapy ; Early Diagnosis ; Failure to Thrive* ; Follow-Up Studies ; Head ; Humans ; Hydrocephalus ; Hypothalamic Diseases ; Infant* ; Optic Nerve Glioma ; Palliative Care ; Retrospective Studies ; Seoul ; Strabismus ; Vomiting ; Weight Gain

OBJECTIVETo study clinical and imaging features of hypothalamic hamartoma in children.

METHODSImaging findings and clinical manifestations of 38 children with hypothalamic hamartomas were retrospectively reviewed. The patients included 25 boys and 13 girls, ranging in age of onset from 1 month to 15 years. All the 38 patients were examined with pre-contrast and post-contrast T1 weighted MR imaging and with non-contrast T2 weighted MR imaging. Meanwhile, 10 patients received CT scan. Hypothalamic hamartomas were confimed by pathologic examinations in the 38 patients.

RESULTSGelastic epilepsy, precocious puberty, other types of epilepsy and disturbance of intelligence were main manifestations in the 38 patients. Gelastic epilepsy was found as an initial clinical symptom in 17 cases, precocious puberty in 13 cases and other types of epilepsy in 8 cases. All masses were located in the suprasellar and interpeduncular cistern. They showed iso-density on CT scan, and homogeneous signal iso-intense to gray matter on T1 and T2 weighted MR images. With contrast MR images, there was no enhancement in the mass. The size or pedunculation of the mass was not correlated with clinical features.

CONCLUSIONSHypothalamic hamartoma may be characterized by precocious puberty and/or gelastic epilepsy and specific imaging findings mentioned above.

Adolescent ; Adult ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma ; complications ; diagnosis ; pathology ; Humans ; Hypothalamic Neoplasms ; complications ; diagnosis ; pathology ; Infant ; Magnetic Resonance Imaging ; Male ; Tomography, X-Ray Computed

Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Hypothalamic Neoplasms ; pathology ; radiotherapy ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pituitary Neoplasms ; pathology ; radiotherapy

Brain Neoplasms ; complications ; Humans ; Hypothalamic Diseases ; etiology ; Syndrome

The preoptic area and anterior hypothalamus plays a pivotal role in body temperature regulation, and damage in this region causes hyperthermia. This hyperthermia is particularly troublesome because of the possibility that it may reflect an occult infectious process. We report a case of fever of unknown origin in a patient after removal of neoplasm involving the hypothalamus. A 29-year old man underwent craniotomy and removal of hypothalamic choroid meningioma. Seventy days after the removal of his tumor, his body temperature began to rise. But, there was no evidence of infection, inflammatory disease, metabolic disease, drug fever and recurred tumor. Repeated administration of antipyretic agent did not reduce body temperature. So, we considered that the elevated temperature had a central basis. The patient was treated with chlorpromazine in an attempt to lower his temperature. This drug reduced successfully his body temperature.
Adult ; Body Temperature ; Body Temperature Regulation ; Chlorpromazine ; Choroid ; Craniotomy ; Fever of Unknown Origin* ; Fever* ; Humans ; Hypothalamic Neoplasms* ; Hypothalamus ; Hypothalamus, Anterior ; Meningioma ; Metabolic Diseases ; Preoptic Area

OBJECTIVE: Management strategies for pediatric chiasmatic-hypothalamic gliomas(CHG) include surgery, irradiation, chemotherapy and a combination of these modalities. This study was performed in order to compare the efficacy of various methods of treatment and to describe its optimal management. MATERIAL AND METHOD: We have reviewed the results of management of 6 children with a diagnosis of CHG, who were observed closely during the last 8 years. The patients were aged 7 months to 15 years. Our patients presented with diencephalic syndrome, endocrine dysfunction, and progressive visual loss. None of these had evidence of neurofibromatosis-1. Treatment consisted of surgery alone(2), surgry and irradiation(2), surgery, irradiation and chemotherapy(1), and surgery and chemotherapy(1). RESULTS: Four children had large exophytic suprasellar tumors and two showed diffuse midline lesions. Obstructive hydrocephalus was present in all patients. Pathologic examination revealed anaplastic astrocytoma in 1 and low-grade astrocytoma in 5. Two patients, recently treated with radiation therapy following radical subtotal resection, showed significant tumor reductions and good clinical status. Four patients had partial tumor resection. Of these patients, two developed disease stabilization during follow-up period of 7 and 8 years, respectively. Life-threatening complications were noted in remaining two patients. CONCLUSION: CHG may follow an unpredicatable course and show a various reponse to each treatment modality. Further studies are indicated to define the optimal method of treatment of CHG in childhood.
Astrocytoma ; Child* ; Diagnosis ; Drug Therapy ; Follow-Up Studies ; Glioma* ; Humans ; Hydrocephalus ; Hypothalamic Neoplasms ; Radiotherapy

Anatomical lesions of hypothalamic area associated with hypodipsic hypernatremia have been reported only rarely. We report here a case of hypodipsic hypernatremia induced by a hypothalamic lesion. A 25-yr-old man, who had been treated with radiation for hypothalamic tumor 5-yr before, was admitted for evaluation of hypernatremia and hypokalemia. He never felt thirst despite the elevated plasma osmolality and usually refused to drink intentionally. Plasma arginine vasopressin (AVP) level was normal despite the severe hypernatremic hyperosmolar state and urine was not properly concentrated, while AVP secretion was rapidly induced by water deprivation and urine osmolality also progressively increased to the near maximum concentration range. All of these findings were consistent with an isolated defect in osmoregulation of thirst, which was considered as the cause of chronic hypernatremia in the patient without an absolute deficiency in AVP secretion. Hypokalemia could be induced by activation of the renin-angiotensin-aldosterone system as a result of volume depletion. However, inappropriately low values of plasma aldosterone levels despite high plasma renin activity could not induce symptomatic hypokalemia and metabolic alkalosis. The relatively low serum aldosterone levels compared with high plasma renin activity might result from hypernatremia. Hypernatremia and hypokalemia were gradually corrected by intentional water intake only.
Adult ; Argipressin/*secretion ; Case Report ; Human ; Hypernatremia/*etiology ; Hypothalamic Neoplasms/*metabolism ; Male ; Osmolar Concentration ; *Thirst