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G272(P) ABCD (AB-Normal Calcium, Calcinosis, Creatinine) Syndrome of Down Syndrome
  1. G Thangaraju,
  2. S Hosduga
  1. Community Paediatrics, Weston Area Health NHS Trust, Weston Super Mare, UK

Abstract

Aim Hypercalcaemia and Nephrocalcinosis have been reported in Down syndrome children. We report a 2 year and 6 months old boy with Down syndrome died of renal failure due to Nephrocalcinosis.

Case report A male baby born by normal delivery at term. Postnatal examination suggestive of trisomy 21, later confirmed by karyotype. He was bottle fed baby. At 11 months review, he was taking formula feed with weaning on to solid foods. He was having constipation symptoms. He was commenced on movical sachets. Deictic assessment at 14 months showed he was feeding excessively, extra cream and butter causing abdominal pain and unsettled nights. His milk feeds was reduced and advised to add milk free fat like margarine, Soya cream. Parents reported that full fat milk worsened his constipation symptoms. A review at 2 years 6 months, he has failure to thrive. He collapsed at his home with pale and floppy needing CPR, inotropes adrenaline due to cardio respiratory arrest. He was resuscitated for 20 min. Initial blood gas showed ph 6.67, HCO3 4.0, lactate 11 with sodium 108 and potassium 10.24. His blood pressure was on lower side. Hpyoadneralism was suspected for which he received hydrocortisone and saline boluses. His blood test showed Calcium corrected – 3.83 mmols/L, Phosphate – 2.53 mmols/L, Creatinine – 105, Urea – 23.7, Sodium – 134, Potassium – 5.3, CRP – 8, PTH– 0.3, INR – 1.5. The child declared dead at PICU.

Results The post mortem reports that the cause of death is acute pylenonephritis and nephrocalcinosis. The skeletal survey showed T5 and T7 vertebral compression fractures, multiple wormian bones (compatible with trisomy 21) and bilateral nephrocalcinosis. The infection screen and toxicology was essentially negative.

Conclusion 1) Child presenting with failure to thrive should be evaluated with serum calcium level, then if it present then with renal function test, ultrasound kidney, urine calcium creatinine ratio.

2) Routine bone profile testing along with TFT could be done for Down syndrome children.

3) As the natural history of ABCD syndrome is still unknown, more research is needed.

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