Hypocalcemia impacts heart failure control in DiGeorge 2 syndrome.
Chromosome 10p terminal deletion accounts for a rare subset among patients presenting with DiGeorge syndrome, and is designated as DiGeorge 2 syndrome. We report a neonate with DiGeorge-like phenotype having a deletion of distal 10p (p13-pter) and a duplication of terminal 3q (q29-qter) derived from paternal balanced translocation between 3q29 and 10p13. She had facial dysmorphism, atrial and ventricular septal defect, impaired T-cell function, hypoparathyroidism, sensorineural hearing loss, renal abnormalities and developmental delay. Her phenotype corresponded well with the typical characteristics of partial monosomy 10p and the small duplication of terminal 3q did not involve the critical region of 3q duplication syndrome. Clinically, hypoparathyroidism-related hypocalcemia lasted for three weeks and resulted in repeated episodes of heart failure. It was not until the calcium level was normalized that her heart failure improved markedly.


CONCLUSIONS
Cytogenetic analysis can help to recognize patients early on who have terminal 10p deletion when microdeletion of 22q11.2 is not the cause of DiGeorge syndrome. Hypoparathyroidism-related hypocalcemia impacts heart failure control in partial monosomy 10p and should be managed aggressively on critical care.
Chao
Pei-Hsin
PH
Department of Pediatrics, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, 123 Ta-Pei Road, Niao-Sung Hsiang, Kaohsiung Hsien,Taiwan, R.O.C.
Chao
Mei-Chyn
MC
Hwang
Kao-Pin
KP
Chung
Mei-Yung
MY
D002117:Calcitriol / Q000627:therapeutic use; D002120:Calcium Channel Agonists / Q000627:therapeutic use; D002125:Calcium Gluconate / Q000627:therapeutic use; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006333:Heart Failure / Q000209:etiology / Q000235:genetics / Q000517:prevention & control*; D006801:Humans; D006996:Hypocalcemia / Q000188:drug therapy / Q000209:etiology*; D007011:Hypoparathyroidism / Q000150:complications*; D007231:Infant, Newborn; D014178:Translocation, Genetic
D002120:Calcium Channel Agonists; D002117:Calcitriol; D002125:Calcium Gluconate