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Roth, Christian

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

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Sturge-Weber syndrome: presentation with partial hypopituitarism

1 / Lalit Kumar Meher2 / Siva Krishna Kota3 / Sruti Jammula4 / Surabhi Venkata Satya Krishna1 / Kirtikumar D. Modi1

1Department of Endocrinology, Medwin Hospital, Hyderabad, Andhra Pradesh, India

2Department of Medicine, MKCG Medical College, Berhampur, Orissa, India

3Department of Anesthesia, Central Security Hospital, Riyadh, Saudi Arabia

4Department of Pharmaceutics, Roland Institute of Pharmaceutical Sciences, Berhampur, Orissa, India

Corresponding author: Dr. Sunil Kumar Kota, Department of Endocrinology, Medwin Hospitals, Chiragh Ali Lane, Nampally, Hyderabad 500001, Andhra Pradesh, India Phone: +91-8008408648, Fax: +9140-66623441

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 7-8, Pages 785–789, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2012-0056, June 2012

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Sturge–Weber syndrome (SWS) is a rare disorder involving central nervous system abnormalities. It manifests with a facial port-wine birthmark and a vascular malformation of the brain. Infants and children present with seizures and stroke-like episodes with focal neurologic deficits. Patients with Sturge-Weber syndrome carry the additional risk of developing hypothalamic- pituitary dysfunction, secondary to their central nervous system dysfunction. Although one would suspect the hypothalamic-–pituitary axis would be at risk for impairment given the abnormalities that often occur in Sturge-Weber syndrome, they are not commonly recognized by clinicians. Increased awareness of this potential complication in patients with this rare disease of Sturge-Weber syndrome is needed. We hereby report a case of SWS with partial hypopituitarism and consider it to be important that these patients should undergo routine evaluation of pituitary function in the face of any relevant clinical manifestations.

Keywords: hypothalamic-pituitary dysfunction; port-wine stain; stroke; Sturge-Weber syndrome

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