SESSION TITLE: Miscellaneous Cases IV
SESSION TYPE: Medical Student/Resident Case Report
PRESENTED ON: Monday, October 28, 2013 at 04:15 PM - 05:15 PM
INTRODUCTION: Hypocalcemia in a patient with sarcoidosis may represent underlying hypoparathyroidism and it has been described in syndrome of micro deletion on long arm of chromosome 22 (22q11.2DS). This include DiGeorge syndrome, Velocardiofacial syndrome, Shprintzen syndrome, conotruncal anomaly face syndrome, Caylor cardiofacial syndrome, autosomal dominant Opitz G/BBB syndrome.
CASE PRESENTATION: A 38-years old African American (AA) female presented with right sided chest pain a week after video assisted thoracoscopy for right lung nodules and hilar lymphadenopathy with pathology showing non-caseating granuloma. She had history of recurrent pneumonias and hypocalcemia. She reported perioral numbness and muscle cramps. Vitals showed tachycardia. Examination showed normal facial features, positive Chvostek's and Troussau's signs, dullness to percussion on right lower chest with decrease air entry and surgical scar of birth hernia repair around the umbilicus. Initial labs were significant for normocytic anemia, calcium of 5.6 mg/dl and ionized calcium of 0.69 mmol/L, parathyroid hormone level of 27 ng/ml, phosphorus of 5.4 mg/dl and vitamin D 25-hydroxy of 21.4 ng/ml. Non-contrast computed tomography chest scan showed right pleural effusion, right sided aortic arch and thoracic aorta with butterfly deformity of sixth thoracic vertebra. Chromosomal studies were positive for 22q11.2 micro deletion.
DISCUSSION: Hypocalcemia in the presence of sarcoidosis in the presence of right sided aorta and butterfly vertebra led to the suspicion of 22q11.2DS. The diagnosis of hypoparathyroidism in DGS usually presents as neonatal seizure but it can be presenting finding in adulthood. The classic facial characteristics associated with this syndrome may be absent in AA population which may explain the delay in diagnosis in our patient. Coexistence of 22q11.2DS and sarcoidosis has been hypothesized to be due to the deficiency of thymic CD25+ T.
CONCLUSIONS: A high index of suspicion is needed for the diagnosis of 22q11.2 DS in adult AA patients presenting with the combination of sarcoidosis and hypocalcemia. Furthermore, this syndrome can be transferred in autosomal dominant fashion and patients have diminished life expectancy with increased risk of sudden death not related to any single factor.
Reference #1: Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH 2001 The 22q11.2 deletion syndrome. Adv Pediatr 48:39-73
Reference #2: McDonald-McGinn DM, et al. The Philadelphia story: the 22q11.2 deletion: report on 250 patients. Genet Couns. 1999b;10:11-24
Reference #3: Saeed A, Khan M, Irwin S, Fraser A. Sarcoidosis presenting with severe hypocalcaemia. Ir J Med Sci. 2011;180(2):575-7
DISCLOSURE: The following authors have nothing to disclose: Khazraj Fadhil, Muhammad Shah, Miriam Parker, Ngozi Orjioke
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