Abstract
We describe the case of a 62-year-old woman with schizophrenia and intellectual disability, who presented with intermittent muscle cramping for 2 weeks. A dysmorphic face and a positive Trousseau's sign, but without ecchymosis or petechial lesion were noted. Laboratory data revealed impaired renal function (creatinine level = 1.6 mg/dL), severe hypocalcaemia (total calcium level = 5.7 mg/dL) with low urinary calcium excretion (13.2 mg/day), hyperphosphatemia (phosphate level = 7.3 mg/dL), and low intact parathyroid hormone level (52.5 pg/mL)-indicating primary hypoparathyroidism. A blood smear revealed thrombocytopenia (30,000 thrombocytes/µL) and giant platelets-indicating macrothrombocytopenia. Chromosome 22q11.2 deletion syndrome (22q11.2DS) in the deficient chromosome 22 was confirmed using multiplex ligation-dependent probe amplification showing haploinsufficiency in GP1BB and TBX-1. Cooccurrence of hypoparathyroidism and macrothrombocytopenia in 22q11.2DS is rare and can easily be misdiagnosed as idiopathic thrombocytopenia purpura and inappropriate splenectomy or chemotherapy can aggravate hypoparathyroidism. Early diagnosis of 22q11.2DS, characterized by hypoparathyroidism and macrothrombocytopenia, in elderly patients ...Continue Reading
References
Mar 10, 2001·Nature·E A LindsayA Baldini
Nov 21, 2001·Nature Reviews. Genetics·E A Lindsay
Mar 20, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Taichi KatoRumiko Matsuoka
Sep 7, 2004·European Journal of Pediatrics·Véronique Latger-CannardPierre Bordigoni
Jun 2, 2007·Medical Principles and Practice : International Journal of the Kuwait University, Health Science Centre·N A Akar, A D Adekile
Oct 24, 2007·Lancet·Lisa J Kobrynski, Kathleen E Sullivan
Nov 16, 2007·American Journal of Medical Genetics. Part a·Andrea C StachonRosanna Weksberg
Feb 5, 2011·Journal of Endocrinological Investigation·E PasseriS Corbetta
Jul 28, 2011·Journal of Pediatric Hematology/oncology·Leticia Hernández-NietoSara Elva Espinosa-Padilla
Jun 13, 2012·Journal of Natural Science, Biology, and Medicine·Sourya AcharyaS N Mahajan
Jan 1, 2011·Revista brasileira de hematologia e hemoterapia·Rafael Fabiano Machado RosaGiorgio Adriano Paskulin
Apr 10, 2013·Pediatrics International : Official Journal of the Japan Pediatric Society·Shinji KunishimaHidehiko Saito
Jun 19, 2013·Internal Medicine·Yuki NakadaSatoru Sakihara
Sep 26, 2013·Annals of General Psychiatry·Kazutaka OhiMasatoshi Takeda
Feb 14, 2014·Journal of Bone Metabolism·Seung Kyung LeeYoon-Sok Chung
Jun 10, 2015·The Application of Clinical Genetics·Bülent HacıhamdioğluKenan Delil