UNIQUE PRESENTATION OF AN 8p DELETION IN A DISCORDANT TWIN WITH ATRIOVENTRICULAR CANAL DEFECT AND PROLONGED HYPOGLYCEMIA
Kumar P*, Elshershari H, Parashette KR, Ize-Ludlow D, Harris C
*Corresponding Author: Praveen Kumar, M.D., Department of Pediatrics, University of Illinois at Chicago, 840 S. Wood Street, Chicago, IL 60612, USA; Tel.: +312-850-0375; Fax: +312-413-0243; E-mail: praveenk@ uic.edu
page: 47

CASE REPORT

Discordant, dichorionic diamniotic twins were born to a 21-year-old African-American gravida 3 para 1 mother via emergency C-section at 36 weeks gestation. The pregnancy was complicated by tobacco use. The mother had a healthy 3-year-old female and one spontaneous abortion in the first trimester. The birth-weight of female twin A was 860 g (<3%), length 30.5 cm (<3%) and head circumference 25 cm (<3%). The birth-weight of female twin B was 2060 gm (3-10%), length 40.5 cm (<10%) and head circumference 30.5cm (3-10%).

The physical examination of twin A at birth revealed a triangular face, low set and posterior rotated ears, micrognathia and high arched palate. The APGAR scores at birth were 1 and 7 at 1 and 5 min., respectively. On cardiovascular examination, grade 2/6 systolic ejection murmur at the left sternal border was heard. Echocardiography showed a complete balanced atrioventricular canal defect, pulmonary stenosis (peak gradient of 63.2 mmHg), a small muscular ventricular septal defect and a secundum atrial septal defect (Figure 1). Repeated echocardiography showed progressive valvular pulmonary stenosis (peak gradient of 104.9 mm Hg).Twin A remained hospitalized for 4 months and during this time developed poor oral feeding, pelviectasis on the left side, hypertension which required hydralazine and methyldopa, bilateral inguinal hernia, distal renal tubular acidosis, Type 4B.

Twin A developed nonketotic hypoglycemia at 2 months of age. The blood glucose ranged between 26.0 and 40.0 mg/dL and was associated with inappropriate insulin levels (Table 1). During a glucagon stimulation test (0.5 mg intramuscular) the patientís glucose increased from 48.0 to 82.0 mg/ dL. The hypoglycemia resolved with diazoxide (5 mg/kg/ day) which was discontinued at 11 months of age without recurrence of hypoglycemia. Cytogenetic testing at the Chicago Laboratory, University of Illinois Medical Center, Chicago, IL, USA, revealed a small deletion of the terminal bands of the short arm of chromosome 8.46,XX, del (8)(p22).ish del(8)(p23.3 p23.3)(D8S504-). Microarray analysis at the Signature Genomics Laboratory, Washington, DC, USA, confirmed single copy loss of 673 oligonucleotide probes at the subtelomeric region of the short arm of chromosome 8. The patient had global developmental delay. Twin B was normal on physical examination and echocardiography and had no hypoglycemia. The limited family history is negative for diabetes mellitus.

The patientís cardiovascular anomalies were attended to at 6 months of age with repair of the atrioventricular canal defect and pulmonic stenosis. The postoperative period was complicated by supraventricular tachycardia, junctional ectopic tachycardia, atrial fibrillation, functional AV blocks and multifocal atrial ectopic rhythm. The arrhythmias were well controlled with amiodarone and digoxin.





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