The patient is a 33-month-old Caucasian female diagnosed with Type 1 diabetes mellitus (T1D).
L. K. presented with 9-day history of polydipsia and polyuria. At home, the urine revealed positive ketones, and a blood glucose checked on home glucometer was 542 mg/dL. L. K. was transferred to a children's hospital and admitted with hyperglycemia and ketonuria without acidosis. Glucose management in the hospital was difficult because of hyperglycemia during the day and hypoglycemia at night without the initiation of insulin.
L. K. was born to a mother who was treated with insulin since the newborn period and said she was “born without a pancreas.” L. K.'s mother is one of six children born to parents without diabetes. Two of L. K.'s mother's siblings have T1D, and two other siblings without diabetes have children with T1D. L. K. has a 4-year-old sibling without diabetes.
A HgbA1C was 9.1%, and a diabetes autoimmune panel revealed positive insulin antibodies of 24 uU/mL and positive ICA512 antibodies of 3.6 U/mL. Mutational analysis for PDX1 (encodes IPF1/associated with MODY Type 4) was performed and was negative.
L. K.'s ketosis resolved, and she was initially treated with 2 U of lantus in the morning. She was discharged on 2 U of Lantus in the morning and 0.5 U of Humalog for blood glucose levels greater than 350 mg/dL.
It is unclear whether L. K.'s mother had neonatal diabetes or a defect in PDX1, a very rare condition that results in pancreatic agenesis when homozygous for the mutation. Heterozygous mutations result in MODY Type 4. There are little data regarding the risk of T1D in children of mothers with neonatal diabetes, whereas children of mothers with MODY 4 are at risk for Type 2 diabetes. Family history is vital in newly diagnosed patients with T1D, and although neonatal diabetes and pancreatic agenesis are rare conditions, when it is present in a family member, those patients should be observed to see if there is transmission of a monogenic form of diabetes.
© 2012 Published by Elsevier Inc.