Permanent neonatal diabetes mellitus with growth disturbance, developmental delay, epilepsy and dysmorphic features

Abstract

We report the case of 15-mo-old girl who manifested neonatal diabetes mellitus associated with IUGR, developmental delay, epilepsy dysmorphic features and growth disturbance. She was born at 38 wk of gestation after normal pregnancy. Her birth weight was 2262 g (<10%tile) and height 45.0 cm (<10%tile). Since birth she gradually presented failure to thrive and presented hyperglycemia (glucose 692 mg/dl), ketoacidosis and elevated HbA1c level (7.7%) at 3 mo of age. The anti-GAD antibody was negative and the serum CPR level was 0.5 ng/ml. The girl was treated with intensive insulin therapy from 3 mo of age, however, her weight did not improve and was only 3305 g (-4.6 SD) at 5 mo of age. When admitted to our hospital, she was recognized as having dysmorphic features such as prominent forehead, downturned mouth, bilateral ptosis, arthrogryposis, hypertonia and umbilical hernia. Because she presented frequent hypoglycemic episodes under the intensive insulin injection regimen, treatment was changed to a twice a day injection schedule. Subsequently, the patient did not show any hypoglycemic episodes and she gradually gained a weight. However, at 7 mo of age, seizures developed and her EEG was hypsarrhythmic. She is now 15 mo of age but she cannot sit without support. She is still short and her height is 64.8 cm (-3.9 SD). Copyright© 2005 by The Japanese Society for Pediatric Endocrinology.