Pituitary stalk lesion in a 13-year-old female
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Mihail Zilbermint
Abstract
Germinomas presenting with a pituitary stalk lesion and panhypopituitarism are rare in children, and their definite diagnosis is challenging. An invasive diagnostic approach, such as a transsphenoidal biopsy, is often required prior to establishing a treatment regimen. A 13-year-old female presented with 1 year of secondary amenorrhea, fatigue, and progressive thirst with polyuria. Laboratory work-up revealed panhypopituitarism (central hypothyroidism, hypogonadotropic hypogonadism, adrenal insufficiency and central diabetes insipidus). α-Fetoprotein and β-human chorionic gonadotropin were not elevated in serum nor in cerebrospinal fluid. The magnetic resonance imaging (MRI) of the pituitary region showed an enhancing infundibular lesion, extending into the hypothalamus, and infiltrating the pituitary gland. A transsphenoidal biopsy of the infundibular lesion confirmed the diagnosis of germinoma (germ-cell tumor). After appropriate hormone replacement therapy, chemotherapy and low-dose radiation therapy, the patient achieved complete resolution of the pituitary stalk lesion on the MRI.
Acknowledgments
This research was supported in part by the Intramural Research Program of the National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development, protocol 1997-CH-0076 (ClinicalTrials.gov Identifier: NCT00001595). These organizations had no further role in the collection, analysis and interpretation of data; in the writing of the report, and in the decision to submit the paper for publication. The principal investigator had full access to all the data in the case and takes responsibility for the integrity of the data and the accuracy of the data interpretation.
We thank our oncology colleagues at the NIH for treating the case patient. We thank Diane Cooper, MSLS, NIH Library for providing assistance in writing this manuscript. We thank Maya Nadison, MHS who assisted with proofreading the manuscript.
Disclosures
The authors have nothing to disclose.
References
1. Afzal S, Wherrett D, Bartels U, Tabori U, Huang A, et al. Challenges in management of patients with intracranial germ cell tumor and diabetes insipidus treated with cisplatin and/or ifosfamide based chemotherapy. J Neurooncol 2010;97:393–9.Search in Google Scholar
2. Maghnie M, Cosi G, Genovese E, Manca-Bitti ML, Cohen A, et al. Central diabetes insipidus in children and young adults. New Engl J Med 2000;343:998–1007.Search in Google Scholar
3. Matsutani M, Sano K, Takakura K, Fujimaki T, Nakamura O, et al. Primary intracranial germ cell tumors: a clinical analysis of 153 histologically verified cases. J Neurosurg 1997;86:446–55.Search in Google Scholar
4. Packer RJ, Cohen BH, Cooney K. Intracranial germ cell tumors. Oncologist 2000;5:312–20.Search in Google Scholar
5. Nielsen EH, Jorgensen JO, Bjerre P, Andersen M, Andersen C, et al. Acute presentation of craniopharyngioma in children and adults in a Danish national cohort. Pituitary 2012;12:1–8.Search in Google Scholar
6. Marchand I, Barkaoui MA, Garel C, Polak M, Donadieu J, Writing Committee. Central diabetes insipidus as the inaugural manifestation of Langerhans cell histiocytosis: natural history and medical evaluation of 26 children and adolescents. J Clin Endocrinol Metab 2011;96:E1352–60.Search in Google Scholar
7. Echevarria ME, Fangusaro J, Goldman S. Pediatric central nervous system germ cell tumors: a review. Oncologist 2008;13:690–9.Search in Google Scholar
8. Crawford JR, Santi MR, Vezina G, Myseros JS, Keating RF, et al. CNS germ cell tumor (CNSGCT) of childhood: presentation and delayed diagnosis. Neurology 2007;68:1668–73.Search in Google Scholar
9. Aoyama H, Shirato H, Kakuto Y, Inakoshi H, Nishio M, et al. Pathologically-proven intracranial germinoma treated with radiation therapy. Radiother Oncol 1998;47:201–5.Search in Google Scholar
10. Kretschmar C, Kleinberg L, Greenberg M, Burger P, Holmes E, et al. Pre-radiation chemotherapy with response-based radiation therapy in children with central nervous system germ cell tumors: a report from the Children’s Oncology Group. Pediatr Blood Cancer 2007;48:285–91.Search in Google Scholar
©2014 by Walter de Gruyter Berlin Boston
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