Hypothalamic hamartoma: a cause of precocious puberty.

Hypothalamic hamartomas are uncommon congenital malformations that present as precocious puberty, gelastic seizures and/or psychiatric disorders. Characteristic changes in MRI scans lead to a diagnosis. Treatment may include surgery or gonadotropin-releasing hormone agonists (GnRHa) depending on clinical manifestations.Here, we describe a case of hypothalamic hamartoma diagnosed in a girl in middle childhood, who presented with early development of secondary sexual characteristics. Physical examination, hormonal study, bone age and pelvic ultrasound findings were consistent with those of precocious puberty. The investigation also included a brain MRI scan, which revealed a small nodule with regular limits in the left hypothalamic region/tuber cinereum. GnRHa treatment and neurosurgical follow-ups were initiated promptly. The patient showed a reversal of secondary sexual characteristics and stable hamartoma size. This case illustrates the importance of brain MRI scans as part of the assessment of suspected precocious puberty because clinical features do not identify patients with an underlying pathology.

Extended Transsphenoidal Approach for Gross Total Resection of Hypothalamic Tumor.

Tumors of the optic pathway and/or hypothalamus are uncommon, and the majority occur in patients with neurofibromatosis type 1.1,2 These lesions can be managed with a "watch-and-wait" approach; however, when treatment is indicated, the optimal strategy is wholly case dependent. We present a 22-year-old female patient with neurofibromatosis type 1 who had a partially cystic mass within the right mamillary body (Video 1). The mass was present on prior imaging but had increased in size and was newly enhancing with evidence of mass effect on the right optic tract. Given her history and the lesion's progression, treatment was recommended. The patient elected for surgery over radiation. Preoperatively, there were no visual field deficits or signs of hypopituitarism. We undertook a unilateral, extended transsphenoidal approach. Additional bony removal of the tuberculum sellae and planum sphenoidale enabled greater exposure of the anterior cranial fossa. The circular sinus was cauterized and divided for visualization of the pituitary stalk and clear identification of the hypothalamus. This provided an operative corridor superior to the pituitary gland and just beneath the optic nerves. The procedure proceeded without complication, and gross total resection was achieved. Postoperative imaging demonstrated gross total resection with a normal-appearing pituitary gland. Of note, the patient did experience mildly elevated postoperative sodium and was treated with desmopressin for transient diabetes insipidus. Twelve- and 24-month follow-up imaging showed no recurrence. The extended transsphenoidal approach used here offers a safe and suitable working corridor to achieve total resection of hypothalamic lesions without injury to the pituitary gland.

A multi-parameter study of the etiological diagnosis of hyponatremia after hypothalamic tumor surgery.

OBJECTIVES: This study aimed to analyze the difference between cerebral salt-wasting syndrome (CSWS) and syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in patients with hyponatremia after hypothalamic tumor surgery, and to explore a convenient and effective way to identify CSWS and SIADH. METHODS: Patients undergoing craniotomy of hypothalamic tumor admitted to the Department of The Affiliated Hospital of Qingdao University from December 2018 to May 2020 were enrolled in this study. Plasma brain natriuretic peptide (BNP), 24-h urine sodium, 24-h urine volume, and the diameter of the inferior vena cava (IVCD) were measured daily before operation and 1-7 days after operation, to analyze differences in plasma BNP, 24-h urinary sodium excretion, 24-h urine volume, and IVCD between the CSWS and SIADH. RESULTS: The medical data of 31 patients with hypothalamic tumors were collected. Fifteen of these patients (48%) had postoperative hyponatremia, nine patients (29%) had CSWS, and six patients (19%) had SIADH. Plasma BNP, 24-h urinary sodium excretion, and 24-h urine volume in the CSWS group were significantly higher than those in the SIADH group. IVCD decreased in the CSWS group and increased in the SIADH group. CONCLUSIONS: When hyponatremia occurs after hypothalamic tumor surgery, plasma BNP, 24-h urinary sodium excretion, 24-h urine volume, and IVCD are of great help in identifying CSWS and SIADH.

Case reports of latent HBV hepatitis in patients after neurosurgical treatment for hypothalamic and pituitary tumors.

BACKGROUND: Hepatitis B virus (HBV) infection is a major public health problem worldwide. More than 2 billion people have been exposed to HBV, and about 257 million individuals are chronic carriers of HBV. HBV reactivation has been increasingly reported in HBV carriers who have undergone immunosuppression or chemotherapy, resulting in mortality. Treatment of hypothalamic/pituitary tumors in HBV carriers requires extensive care to avoid HBV reactivation as steroid therapy is required after surgery for hypothalamic/pituitary tumors. CASE PRESENTATION: This retrospective review identified 5 patients, who were HBV carriers positive for hepatitis B surface antigen among 1352 patients with surgically treated hypothalamic/pituitary tumor in Kohnan Hospital between February 2007 and April 2017. Transsphenoidal surgery was performed with particular attention to prevent damage to the pituitary gland, with delicate manipulation to minimize postoperative steroid coverage. All patients received nucleot(s)ide analogue to control HBV-DNA levels before the surgery. As a result, all patients had a good clinical course. Blood examinations found a transient increase of liver enzymes and HBV-DNA levels in all patients, which started to decrease within 2 weeks after surgery. No specific treatment other than nucleot(s)ide analogues was needed to maintain liver function, and all patients returned to their previous activities including reinstatement. CONCLUSION: Initiation of nucleot(s)ide analogues administration prior to the surgery for hypothalamic/pituitary tumors can be an effective strategy for preventing reactivation in HBV carriers. Appropriate screening of the patient's HBV phase, optimal timing of nucleot(s)ide analogues -administration, and administration period of nucleot(s)ide analogues need to be established.

A Rare High-Grade Glioma with a Histone H3 K27M Mutation in the Hypothalamus of an Adult Patient.

BACKGROUND: Diffuse midline glioma H3 K27M mutant is a new tumor entity described in the revised 2016 World Health Organization classification. It is most frequently observed in children and develops in midline structures, including the brainstem, thalamus, and spine. We describe a rare diffuse midline glioma with an H3 K27M mutation arising in the hypothalamus of an adult. CASE DESCRIPTION: A 27-year-old woman was admitted to our department complaining of amenorrhea, polydipsia, and diuresis for the previous 3 months, and headache and lethargy for approximately 10 days. Computed tomography scan showed an oval isodense solid mass extending from the pituitary toward the suprasellar cistern. A gadolinium-enhanced magnetic resonance imaging (MRI) showed a strongly heterogeneous enhanced solid lesion and nonenhanced cystic lesion. The patient underwent surgery and chemoradiotherapy with temozolomide. Histologic and immunohistochemical analyses revealed H3 K27M-mutant diffuse midline glioma. The patient underwent another resection for a recurrent tumor 5 months after the first surgery. Three months after the second operation, the patient relapsed, with MRI revealing spinal cord and meningeal metastases; she died shortly afterward. CONCLUSIONS: Diffuse midline glioma with an H3 K27M mutation occurring in the hypothalamus of an adult is rare but should be considered in differential diagnoses. Because histone H3 K27M mutations are associated with aggressive clinical behavior and poor prognosis, molecular analyses should be used to determine the clinical and histopathologic features of such tumors. This will contribute to developing targeted drugs and gene therapy going forward.

Endonasal endoscopic skullbase surgery in children.

OBJECTIVE: The role of endonasal endoscopic approach for pathologies in the paediatric population is evolving and has still not been accepted as standard of care in neurosurgery. It represents a challenge in terms of narrow access, instrument manipulation and adequate reconstruction of defects. We have described our experience in 49 cases from a single neurosurgical unit in paediatric skull base surgeries through this approach over the last 12 years. MATERIAL AND METHODS: A case series of 59 paediatric skull base surgeries in 49 children through endoscopic endonasal route over the last 12 years is presented. The age ranges from 4 months to 18 years. Out of 49 cases, 22 cases were of craniopharyngiomas, 8 cases of pituitary adenomas, 5 cases with CSF rhinorrhea, 5 cases with meningoencephalocele, 3 cases of Rathke's cleft cysts, 2 cases of odontoidectomy and 4 miscellaneous cases viz. mucocele, hypothalamic glioma, esthesioneuroblastoma and epidermoid. CSF leaks were repaired with free graft in the initial years and by vascularized flap more recently. RESULTS: The goal of surgery was achieved in all but two cases in whom the tumour excision was unsatisfactory due to failure of the cyst wall to collapse after decompression. Extent of tumour excision was not compromised by the choice of this approach. Revision surgery for CSF leak was required in three patients. Local vascularized nasoseptal flap has been possible even in very young patients and has now become the standard for reconstruction. CONCLUSION: In spite of the challenges posed by small nostrils and ill-developed sinuses in the paediatric age group, surgery from endoscopic endonasal corridor is possible to be carried out successfully in selected cases.

Solitaire Stent Retriever Mechanical Thrombectomy in a 6-Month-Old Patient with Acute Occlusion of the Internal Carotid Artery Terminus: Case Report.

BACKGROUND: Endovascular mechanical thrombectomy (MT) performed with stent retriever devices have proven efficacious in the treatment of adult patients with acute cerebral ischemia resulting from large-vessel occlusion. Recently, reports describing the use of MT in pediatric large-vessel occlusion have increased. However, these case reports are generally limited to older children and teenagers. CASE DESCRIPTION: We report the use of a Solitaire (Medtronic, Minneapolis, Minnesota, USA) stent retriever for thrombectomy and revascularization of the right middle cerebral artery) in a 6-month-old patient. CONCLUSIONS: To our knowledge, this is the youngest patient reported to be treated with MT using a stent retriever. This case adds to the growing literature that supports the use of MT as a stroke intervention in pediatric patients.

Subcentimeter epilepsy surgery targets by resting state functional magnetic resonance imaging can improve outcomes in hypothalamic hamartoma.

OBJECTIVE: The purpose of this study is to investigate the outcomes of epilepsy surgery targeting the subcentimeter-sized resting state functional magnetic resonance imaging (rs-fMRI) epileptogenic onset zone (EZ) in hypothalamic hamartoma (HH). METHODS: Fifty-one children with HH-related intractable epilepsy received anatomical MRI-guided stereotactic laser ablation (SLA) procedures. Fifteen of these children were control subjects (CS) not guided by rs-fMRI. Thirty-six had been preoperatively guided by rs-fMRI (RS) to determine EZs, which were subsequently targeted by SLA. The primary outcome measure for the study was a predetermined goal of 30% reduction in seizure frequency and improvement in class I Engel outcomes 1 year postoperatively. Quantitative and qualitative volumetric analyses of total HH and ablated tissue were also assessed. RESULTS: In the RS group, the EZ target within the HH was ablated with high accuracy (>87.5% of target ablated in 83% of subjects). There was no difference between the groups in percentage of ablated hamartoma volume (P = 0.137). Overall seizure reduction was higher in the rs-fMRI group: 85% RS versus 49% CS (P = 0.0006, adjusted). The Engel Epilepsy Surgery Outcome Scale demonstrated significant differences in those with freedom from disabling seizures (class I), 92% RS versus 47% CS, a 45% improvement (P = 0.001). Compared to prior studies, there was improvement in class I outcomes (92% vs 76%-81%). No postoperative morbidity or mortality occurred. SIGNIFICANCE: For the first time, surgical SLA targeting of subcentimeter-sized EZs, located by rs-fMRI, guided surgery for intractable epilepsy. Our outcomes demonstrated the highest seizure freedom rate without surgical complications and are a significant improvement over prior reports. The approach improved freedom from seizures by 45% compared to conventional ablation, regardless of hamartoma size or anatomical classification. This technique showed the same or reduced morbidity (0%) compared to recent non-rs-fMRI-guided SLA studies with as high as 20% permanent significant morbidity.

Chordoid Glioma with Psychosis: Case Report.

OBJECTIVE: A rare, low-grade tumor found in the hypothalamus and anterior third ventricle, a chordoid glioma presents a challenge to neurosurgeons: Its successful resection is complicated by its inconvenient location. CASE DESCRIPTION: A 42-year-old male patient presented with a 1-year history of major depressive disorder, with psychotic features associated with generalized tonic-clonic seizures. Brain magnetic resonance imaging (MRI) with contrast revealed a suprasellar mass extending into the third ventricle To resect the lesion, an interhemispheric transcallosal transventricular subfornical approach was used. Pathology revealed a chordoid glioma. The patient had a complicated post-operative period that included the development of neurogenic diabetes insipidus, followed by intractable hyponatremia and death (caused by malignant brain edema). CONCLUSION: A chordoid glioma is a rare neoplasm that, in 2000, was incorporated into the World Health Organization (WHO) classification of central nervous system tumors. Due to its rarity, it is seldom considered in the differential diagnosis of suprasellar masses. Moreover, its unusual presentation and difficult location present a challenge for surgical and medical management.

Endoscopic Transsphenoidal Surgery for an Adult Patient With Giant Exophytic Chiasmatic/Hypothalamic Glioma.

Optic pathway hypothalamic gliomas are intrinsic low-grade gliomas involving the optic nerve, chiasm, optic tract, and hypothalamus. The rarity of these tumors and their unpredictable course make assessment and standardization of treatment modalities difficult. Tumor debulking via various transcranial approaches was considered to be effective at controlling tumor growth, but with high rates of severe surgery-related complications. In the present case, endoscopic transsphenoidal surgery was initiated to debulk the exophytic chiasmatic/hypothalamic glioma with good preservation of hypothalamic and endocrine functions. The authors suggest transsphenoidal surgery with tumor debulking could be an effective and safe treatment for patients with chiasmatic/hypothalamic gliomas.

[A rare case of diencephalic cachexia in an adult female with cranio-pharyngioma]. / Redkii sluchai razvitiia diéntsefal'noi kakheksii u vzrosloi zhenshchiny s kraniofaringiomoi.

Diencephalic cachexia (DС) is progressive weight loss despite a normal caloric intake and a satisfactory state of health, which is caused by hypothalamic lesions. This is a rare (about 100 cases were reported) and potentially fatal disorder of unknown pathogenesis. At present, there is no effective pharmacological therapy for the disorder. Cachexia may regress only if the tumor reduces in size, therefore the timely diagnosis and treatment are of vital importance for the patient. DС is typical of early childhood, and only a few cases have been reported in adults. We present a rare case of DС in a 24-year-old female with papillary craniopharyngioma.

For Debate: Should Bariatric Surgery be Performed in Children and Adolescents with Hypothalamic Obesity?

Hypothalamic dysfunction leading to severe obesity is a serious long-term consequence of paediatric craniopharyngioma. It compromises quality of life, leads to long-term metabolic hazards, and may shorten life expectancy. Therefore, a proactive approach is required. Conventional treatment of hypothalamic obesity is difficult and hardly successful. Experience with bariatric surgery is limited, especially in younger patients. Two retrospective studies recently reported on classic bariatric surgery in a small series of individuals after craniopharyngioma. Of these, one included nine paediatric patients who underwent laparoscopic adjustable gastric banding (LAGB), sleeve gastrectomy (SG), Roux-en-Y gastric bypass (RYGB) or biliopancreatic diversion (BPD). The immediate effects were promising: The mean weight loss was 20.9 kilograms at 6 months and 15.1 kilograms at 12 months. A duodenal-jejunal bypass sleeve (DBJS; EndoBarrier) is a mini-invasive, endoscopically placed and fully reversible bariatric procedure. We reported a boy diagnosed with craniopharyngioma at 10 years old who underwent surgery and radiotherapy. His body weight increased to 139 kilograms and body mass index (BMI) to 46.1 kg/m2 (+4.0 SD) within the subsequent 4.5 years. Fifteen months after DJBS placement, he lost 32.8 kilograms, and his BMI dropped to 32.7 kg/m2 (+2.9 SD). Thus, DJBS proved to be a promising procedure in the treatment of hypothalamic obesity. We suggest performing it in children and adolescents with hypothalamic obesity to prevent or attenuate its devastating long-term sequelae.

Norman M. Dott, master of hypothalamic craniopharyngioma surgery: the decisive mentoring of Harvey Cushing and Percival Bailey at Peter Bent Brigham Hospital.

Norman McOmish Dott (1897-1973) developed surgical neurology in Edinburgh, Scotland, and was a scholar of worldwide renown. One of Dott's most notable contributions to neurosurgery was his understanding of hypothalamic physiology, mostly acquired through the comprehensive study of patients with lesions involving this region of the diencephalon, particularly craniopharyngiomas (CPs). Recognition of symptoms caused by hypothalamic disturbances allowed him to predict the accurate anatomical relationships between CPs and the hypothalamus, despite the rudimentary radiological methods available during the 1930s. His sophisticated knowledge permitted Dott to perform radical removals of CPs originating within the third ventricle floor with acceptable success. Between 1934 and 1937, he operated on 4 CP cases originating in the hypothalamus, achieving a satisfactory postoperative outcome in 3 of the 4 patients. Aware of the strong attachment of hypothalamic CPs to the infundibulo-tuberal area, Dott used a double transbasal and transventricular approach to these lesions, a strategy providing an optimal view and control of the tumor boundaries. The decisive mentorship of several legendary figures of physiology and neurosurgery greatly influenced Dott's surgical evolution. The experimental pituitary gland work he performed with Sir Edward Sharpey-Schäfer at the beginning of his career stirred Dott's curiosity about the issue of hypothalamus-pituitary relationships. As a result, he decided to move to Peter Bent Brigham Hospital (Boston, Massachusetts) in 1923, to train in neurosurgery and neuropathology under the guidance of the leaders in these fields, Harvey Williams Cushing (1869-1939) and Percival Sylvester Bailey (1892-1973). They inspired the young Dott and shared with him their clinical and pathological expertise, in addition to their surgical strategies for best approaching and removing these challenging tumors. In time, Dott would come to surpass his mentors. This paper aims to credit Norman M. Dott for his decisive, modern contributions to hypothalamic CP surgery.

Suction Filter in Endoscopic Endonasal Surgery: A Technical Note.

BACKGROUND: The collection of the greatest possible amount of pathologic tissue is of paramount importance in neurosurgery to achieve the most accurate histopathologic diagnosis, to perform all of the necessary biomolecular tests on the pathologic specimen, and to collect biological material for basic or translational science studies. This problem is particularly relevant in pituitary surgery because of the possible small size and soft consistency of tumors, which make them suitable for removal through suction, reducing the amount of available pathologic tissue. To solve this issue, we adopted a filter connected to the suction tube, which allows the surgeon to collect all of the tissue aspirated during surgery. METHODS: Our experience of 1734 endoscopic endonasal procedures, performed adopting this device since 1998 to December 2015, has been revised to assess its advantages and limitations. RESULTS: This system is easy-to-use, does not impair the surgical maneuvers, and does not add any relevant cost to the surgery. The tissue collected through the filter proved useful for diagnostic histologic and biomolecular analyses and for research purposes, without any relevant artifacts as a result of this method of collection. CONCLUSIONS: The use of a filter has allowed us to obtain the greatest amount possible of pathologic tissue at each surgery. This surgical material has revealed to be helpful both for diagnostic and basic science purposes. The use of the filter has proven to be of particular importance for microadenomas, soft tumors, and supradiaphragmatic or skull base lesions with heterogeneous features, improving the accuracy of histopathologic diagnosis.

Spontaneous intratumoural and intraventricular haemorrhage associated with a pilomyxoid astrocytoma in the hypothalamic/chiasmatic region.

Pilomyxoid astrocytoma (PMA) is a rare, low-grade glioma that is recognised as a variant of pilocytic astrocytoma. There have been few reports on this pathologic entity presenting with spontaneous haemorrhage. In this study, we report a rare case of PMA in the hypothalamic/chiasmatic region presenting with intratumoural and intraventricular haemorrhage. An external ventricular drain was urgently inserted. A ventriculo-peritoneal shunt (VP) was undergone 4weeks thereafter. The patient received fractionated Gamma Knife radiosurgery in another hospital 3weeks after the VP shunt. Three months later, subtotal resection of the tumour was performed in our hospital via a pterional approach. The pathological diagnosis was PMA. Postoperatively, no adjuvant therapy was given, and the neurologic deficits were improved. However, the presentation of endocrine deficits remained. Notably, PMAs in the hypothalamic/chiasmatic region presenting with massive intratumoural and intraventricular haemorrhage may result in a severe condition and long-term impairment of endocrine function. Long-term follow-up is required to monitor the recurrence of the tumour and endocrinopathy.

Hypothalamic-Optochiasmatic Pilocytic Astrocytoma Associated with Occipital and Sacral Spinal Cavernomas: A Mere Coincidence or a True Association?

BACKGROUND: The co-occurrence of cerebral gliomas and cavernous angiomas is rarely encountered in clinical practice. All reported cases with such association have occurred within the brain with none involving the spinal cord. CASE DESCRIPTION: The authors report the case of a hypothalamic-optochiasmatic pilocytic astrocytoma coexisting with right occipital and sacral spinal cavernomas. This 30-year-old man had an 8-year history of chronic lower back pain. Spinal magnetic resonance imaging (MRI) demonstrated an 8.2-cm expansile multilobulated heterogeneously enhancing intradural mass within the sacral spinal canal, extending into the bilateral S1 and left S2 foramina. Brain MRI depicted a 2.9-cm lobulated heterogeneously enhancing sellar-suprasellar solid and cystic mass expanding the sella and displacing the infundibulum to the right, with a normal-appearing pituitary gland inside the sella, and an extensive supratentorial and infratentorial superficial hemosiderosis. L5-S4 laminectomy and pterional craniotomy were performed for the resection of these lesions. Histopathologic examination revealed a sacral spinal cavernoma and a suprasellar hypothalamic-optochiasmatic pilocytic astrocytoma. CONCLUSION: The coexistence of hypothalamic-optochiasmatic pilocytic astrocytoma and occipital and sacral spinal cavernomas has not been reported previously. Especially for radiologically atypical suprasellar lesions, hypothalamic-optochiasmatic glioma should be included in the differential diagnosis of masses that can expand the sella. Besides previously postulated hypotheses of viral-induced or angiogenic factor-induced glial growth, we hypothesize that neoplastic origins of hypothalamic-optochiasmatic glioma might be due to the irritative mechanisms resulting from the frequent bleeds occurring from the spinal or cranial cavernoma.

[Growing teratoma syndrome in a patient with intracranial germ cell tumor].

A six-year-old patient with non-germinomatous germ cell tumor of the chiasmatic-sellar area developed polyuria and polydipsia as the first symptoms of the disease. Then there were signs of precocious puberty and vision impairment. MRI examination revealed a shiasmatic sellar tumor and occlusive hydrocephalus. Tumor marker levels in blood serum were elevated. The alpha-fetoprotein level was increased 5-fold; human chorionic gonadotropin 20-fold. These levels increased over time. The patient received 2 cycles of PEI multiagent chemotherapy (Ifosfamide 1.5 g/m(2), Cisplatin 20 mg/m(2), Etoposide 100 mg/m(2)) during 5 days and 1 cycle of second-line multiagent chemotherapy (Cisplatin 100 mg/m(2) for 1 day and Endoxan 1500 mg/m(2) for 2 days). Despite the decrease in tumor marker levels to normal values, the patient's vision still deteriorated. MRI examination revealed that tumor size increased and its structure changed. Total tumor resection led to vision improvement and regression of intracranial hypertension. Histological analysis of tumor tissue only revealed a mature teratoma. This phenomenon, known as growing teratoma syndrome, is very rare among patients with intracranial non-germinomatous germ cell tumors.