Abstract
Illustrative case
We describe the case of a 3-year-old child, diagnosed with familial neurofibromatosis type 1 (NF1) and asymptomatic optic pathway tumor at the age of two, who developed diencephalic syndrome (DS) due to tumor progression 1 year after diagnosis. Magnetic resonance imaging disclosed an enlarging hypothalamic contrast-enhanced mass. Because of the tumor progression, in terms of tumor volume and DS, chemotherapy (CT) treatment was started according to the international protocol for progressive low-grade glioma, with rapid clinical improvement in terms of gain weight and DS resolution. Interestingly, tumor volume was unchanged after CT.
Conclusions
This case report highlights the following facts: (1) optic pathway glioma (OPG) in young children with NF1 may have definitive growth potentials and thus, they are worth an accurate clinical follow-up; (2) also, OPG occurring in NF1 patients can be responsible for DS in case of hypothalamus involvement; (3) consequently, the child’s growth pattern must be included among the clinical parameters, which must be specifically evaluated during the follow-up of children, with or without NF1, bearing an OPG; and, finally, (4) that DS can improve after CT, even in face of a stable tumor volume
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Yazici N, Varan A, Akalan N, Söylemezoğlu F, Zorlu F, Kutluk T, Akyüz C, Büyükpamukçu M (2011) Diencephalic tumors in children: a 30-year experience of a single institution. Childs Nerv Syst 27:1251–1256
Tanabe M, Watanabe T, Hori T (1994) Von Recklinghausen’s disease with diencephalic syndrome in an adult. Case report. J Neurosurg 80:556–558
Listernick R, Charrow J (1999) Intracranial gliomas in neurofibromatosis type 1. Am J of Medical Genetics 89:38–44
Salmon MA (1972) Russel’s diencephalic syndrome of early childhood. J Neurol Neurosurg Psychiatry 35:196–201
Danziger J, Bloch S (1974) Hypothalamic tumors presenting as the diencephalic syndrome. Clin Radiol 25:153–156
Adornato B, Berg B (1977) Diencephalic syndrome and von Recklinghausen’s disease. Ann Neurol 2:159–160
Waga S, Shimizu T, Sakamura M (1982) Diencephalic syndrome of emaciation (Russel’s syndrome). Surg Neurol 17:141–146
Riccardi VM (1992) Neurofibromatosis: phenotype, natural history, and pathogenesis. Johns Hopkins University Press, Baltimore
Pillai MG, Unnikrishnan AG, Nair V, Jayakumar RV, Kumar H (2005) Diencephalic cachexia: a rare cause for failure to thrive. J Pediatr 147(5):713
Miyoshi Y, Yunoki M, Yano A, Nishimoto K (2003) Diencephalic syndrome of emaciation in an adult associated with a third ventricle intrinsic craniopharyngioma: case report. Neurosurgery 52(1):224–227
Brauner R, Trivin C, Zerah M, Souberbielle JC, Doz F, Kalifa C, Sainte-Rose C (2006) Diencephalic syndrome due to hypothalamic tumor: a model of the relationship between weight and puberty onset. J Clin Endocrinol Metab 91(7):2467–2473
Gropman AL, Packer RJ, Nicholson HS, Vezina LG, Jakacki R, Geyer R, Olson JM, Phillips P, Needle M, Broxson EH Jr, Reaman G, Finlay J (1998) Treatment of diencephalic syndrome with chemotherapy: growth, tumor response, and long term control. Cancer 83(1):166–172
Acknowledgments
This paper is part of the SPeLeS Project (Specializzandi in Pediatria e Letteratura Scientifica), an academic scheme organized by the Department of Woman and Child Health in Padua to improve resident pediatricians’ expertise in analyzing teaching cases and writing scientific reports.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Cavicchiolo, M.E., Opocher, E., Daverio, M. et al. Diencephalic syndrome as sign of tumor progression in a child with neurofibromatosis type 1 and optic pathway glioma: a case report. Childs Nerv Syst 29, 1941–1945 (2013). https://doi.org/10.1007/s00381-013-2109-5
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00381-013-2109-5