Hypothalamic-pituitary function following childhood brain tumors: Analysis of prospective annual endocrine screening.

BACKGROUND: Outcomes for childhood brain tumors are now associated with a five-year survival rate of 75%. Endocrine effects of brain tumors are common, occurring in 43% of patients by 10 years from tumor diagnosis. Optimal timing of screening for endocrinopathies remains undefined. We aim to identify incidence and timing of endocrinopathies following brain tumor diagnosis, to better refine screening guidelines. METHODS: Retrospective chart review of patients referred to our hospital's neuro-oncology clinic for evaluation and treatment of brain tumors. Inclusion criteria were a positive history for brain tumor diagnosis and evaluation at our center. Data collection included demographics, tumor diagnosis, tumor therapy, and endocrinopathy diagnosis and timing. Laboratory data and clinical documentation were reviewed. RESULTS: Four hundred nineteen subjects were included for analysis. Tumor locations included supratentorial 158 (38%), posterior fossa 145 (35%), suprasellar 96 (23%), and upper spinal cord 20 (5%). Only 61% had undergone endocrine screening. Forty-five percent of screened patients had endocrinopathies. Endocrinopathy diagnosis typically occurred within six years after tumor diagnosis. Tumor recurrence and repeated therapies increased the risk for endocrinopathies within the subsequent six years after tumor therapy. Higher rates of endocrinopathies were identified in patients who had received cranial irradiation for posterior fossa, supratentorial, or suprasellar tumors. CONCLUSION: Endocrine screening should occur in childhood brain tumor survivors, particularly those who have received irradiation. Our study suggests that in children with brain tumors, the highest yield for finding a pituitary deficiency is within the first six years after tumor diagnosis and treatment. Screening should continue annually beyond six years, but with special attention in the subsequent six years after therapy for tumor recurrence. Prospective screening and endocrinology referral should be implemented in childhood brain tumor survivors.

Hypothalamic papillary tumor in a patient with tuberous sclerosis.

We here report an unusual tumor of the suprasellar region featuring a papillary growth pattern and cytokeratin expression in a 10-year-old boy with tuberous sclerosis. This hitherto undescribed low-grade hypothalamic tumor extends the spectrum of tumors associated with the tuberous sclerosis complex.

Recurrent spinal cord astrocytoma with intraventricular seeding.

PATIENT: We report on an unusual case of a recurrent and progressive spinal pilocytic astrocytoma with metastatic spreading to the hypothalamus in a 14-year-old boy. TREATMENT AND RESULTS: The patient underwent resection of an intramedullary atypical pilocytic astrocytoma classified as WHO grade II at the level of Th11/12 in 1997 and received local photon beam irradiation. Three years later, a second operation was necessary for a recurrent tumour at the same level. Seventeen months later, a second recurrent tumour with spinal seeding as well as an intracranial tumour in the third ventricle and hypothalamus was detected. He was shunted for an occlusive hydrocephalus and a stereotactic biopsy of the hypothalamic lesion was performed. The tumour was classified as anaplastic pilocytic astrocytoma (WHO grade III). He received chemotherapy with ifosfamide, cisplatin and etoposide (HIT-GBM-C-protocol), craniospinal radiation, and is still alive 60 months after the first operative intervention without neurological deficits.

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.

[Precocious puberty revealing Bourneville tuberous sclerosis]. / Puberté précoce centrale révélatrice d'une sclérose tubéreuse de Bourneville.

BACKGROUND: Benign tumors are seen in tuberous sclerosis. They are found in many organs, and the precocious puberty due to hypothalamic hamartoma and tuberous sclerosis has been reported. However, precocious puberty exceptionally reveals the tuberous sclerosis. CASE REPORT: A 2 month-old boy was admitted because of the fortuitous discovery of polycystic renal disease. Precocious puberty developed at 13 months with enlargement of the penis and testes, appearance of pubic hair, acne and deepening of the voice. Linear growth was recently accelerated and the bone maturation was advanced. Plasma testosterone was elevated (460 ng/100 ml) and LH-RH injection induced rapid rises in plasma LH (2.6 to 28 mUl/ml) and FSH (2 to 8 mUl/ml). Brain imaging techniques (CT scan and NMR) showed a hypothalamic hamartoma and periventricular calcified lesions. Examination with the Wood lamp identified two white leaf macules in the dorsal area. Administration of an analogue of LH-RH effectively reduced the manifestations of precocious puberty. CONCLUSION: Tuberous sclerosis is exceptionally revealed by precocious puberty. The association of polycystic disease and precocious puberty has never before been reported in tuberous sclerosis.

[Total removal of hypothalamic glioma 15 years after irradiation of right optic glioma].

Hypothalamic glioma was found in a 17 year old male patient 15 years after irradiation of right optic glioma. It was totally removed by surgery. He was first admitted to Ryukyu University Hospital at the age of 1 year and 11 months, with right exophthalmos and visual disturbance. Diagnosis was anterior type of right optic glioma. This was treated by irradiation (47 Gy). Follow-up CT scans revealed no regrowth in intraorbital and intracranial regions. At the age of 17 years, CT scan and MRI showed an enhanced mass in the hypothalamus above the suprasellar cistern. Total removal was performed by bifrontal interhemispheric trans-lamina terminalis approach. Histological diagnosis was pilocytic astrocytoma. Postoperatively, consciousness remained disturbed for 3 weeks because of infarction in the bilateral medial nucleus of the thalamus. Radical excision of hypothalamic glioma was reviewed in the literature. We concluded that such excision has a potentially good outcome, and should be attempted when circumstances indicate its feasibility.

Partial fra(X) phenotype with megalotestes in fra (X)-negative patients with acquired lesions of the central nervous system.

We describe 3 men with acquired lesions of the central nervous system (one male with tumor of the third ventricle, two males with peri- or postnatal accidents). In all three patients macroorchidism was associated with facial characteristics similar to those found in fra(X) males, but they were fra(X)-negative. The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra(X) males is responsible for some of their manifestations.