Delayed-Onset Hypoparathyroidism in an Adolescent with Chromosome 22Q11 Deletion Syndrome |
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| Institution: | 1. Department of Population Medicine and Diagnostic Sciences, College of Veterinary Medicine, Cornell University, Ithaca, NY, 14853, USA;2. Perry Veterinary Clinic, Perry, NY, 14530, USA;1. Burn Injury Research Unit, School of Surgery, University of Western Australia, Perth, Western Australia, Australia;2. Centre for Data Linkage, Curtin University, Perth, Western Australia, Australia;3. Burns Service of Western Australia, Royal Perth Hospital and Princess Margaret Hospital, Perth, Western Australia, Australia;2. Institute of Animal Nutrition, Vetsuisse Faculty University of Zurich, Winterthurerstr. 260, 8057 Zurich, Switzerland;1. Department of Medicine, CHU Brugmann, Université Libre de Bruxelles, Brussels, Belgium;2. Michigan Bone and Mineral Clinic, Detroit, MI, USA;3. Department of Medical Oncology, Royal Melbourne Hospital, Melbourne, VIC, Australia;4. Stony Brook Cancer Center, Stony Brook, NY, USA;5. Department of Medical Oncology, University of Michigan Comprehensive Cancer Center, Ann Arbor, MI, USA;6. Department of Urology, Hospital Universitario Pedro Ernesto, Rio de Janeiro, Brazil;7. Department of Medical Oncology, Institut Gustave Roussy, University of Paris Sud, Villejuif, France;8. Department of Medicine, Joan Karnell Cancer Center at Pennsylvania Hospital, Philadelphia, PA, USA;9. Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS-Osteoncology and Rare Tumors Center, Meldola, Italy;10. Division of Oncology, Pennsylvania State University, Milton S. Hershey Medical Center, Hershey, PA, USA;11. Department of Surgery, University of Montreal Hospital Center, Montreal, QC, Canada;12. Department of Urology, Carolina Urologic Research Center, Myrtle Beach, SC, USA;13. Department of Medical Oncology, Toranomon Hospital, Tokyo, Japan;14. Department of Hematology/Oncology, Amgen Inc., Thousand Oaks, CA, USA |
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| Abstract: | ObjectiveTo describe the first case of established chromosome 22q11 deletion syndrome with late onset presentation of hypocalcemia secondary to hypoparathyroidism.MethodsWe present the history, clinical and laboratory investigations, and management of a 17-yearold adolescent boy who presented with 3 separate seizures secondary to hypocalcemia. This patient had an established diagnosis of chromosome 22q11 deletion syndrome at the time of the seizure presentations, but had previously normal calcium levels.ResultsHypocalcemia was noted during each seizure, with corrected calcium levels ranging from 6.64 to 7.76 mg/dL (reference range, 8.52 to 10.52 mg/dL). The hypocalcemia was secondary to hypoparathyroidism, with parathyroid hormone levels < 2.75 pg/mL (reference range, 22.9 to 68.75 pg/mL). He was treated with calcitriol, 0.5 μg daily, and calcium carbonate, 2,400 mg daily, leading to normalization of serum calcium and resolution of seizures.ConclusionChromosome 22q11 deletion syndrome is a relatively common genetic disorder with a wide variety of phenotypic manifestations including cardiac abnormalities, abnormal facies, thymic dysfunction, cleft palate, and hypocalcemia. This case shows that medical practitioners should be aware that hypocalcemia can present after an established diagnosis, which has implications for the management of this disorder. (Endocr Pract. 2011;17: e123-e125) |
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