ESPE Abstracts

• Kamelia, 10 months, known case of neonatal diabetes diagnosed at 5 months of age.

• Presented to our pediatric ICU in Mansoura Health Insurance Hospital by hyperglycemia associated with high grade fever.

• She was diagnosed diabetic at age of 5 months associated with hypothyroidism at initial diagnosis in Mansoura university children hospital.

• Discharged on NPH 3 times daily on 0.7 units/kg/day and on L- thyroxin 50 mg daily. She was controlled till this admission.

• Delayed head support (at 6 months), Mental development was normal.

• Positive consanguinity, Her Father has type 1 diabetes at age of 12 years.

• Her sister was diabetic diagnosed at age of 6 months, died at age of 4 years by DKA and multi-organ failure.

• Initial investigations: Blood glucose: 330 mg/dl ABG: PH: 7 PCO2: 21 HC03:7.3ALT: 148 AST: 258 Creatinine: 1.8

• Protocol of DKA was started, then in the second day patient started to develop jaundice, hepatosplenomegaly, severacidotic breathing, skeletal changes.

• Then, the patient developed sever interactable hypoglycemia and there was continuous loss of bicarbonate 7.3 then 6 then 5.

• At this point, we decided to stop insulin with close monitoring of blood glucose which continue to decrease even with stopping insulin.

• GIR calculated started on 8 and increased to 12.

• ALT:7520 AST:3717 I.N.R:1.03 Albumin :2.7 Creatinine: 2.1 Cholesterol:160, TGs:249 Abdominal ultrasound: Hepato-splenomegaly only

• Fasting C-peptide: 0.02

• Her genetics were sent at initial diagnosis, but she missed follow up there, she was WOLCOTT-RALLISON SYNDROME

• She presented to us again after one year also by pneumonia with elevated liver enzymes, passed and treated.

• Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure