The parents of a one-month old boy brought their child to the outpatient clinic at Anjo Kosei Hospital, where I was just starting my senior residency in the Department of Pediatrics.
The infant had been vomiting since the previous day and his breathing was labored. The boy weighed just over 7 pounds. He had lost approximately half a pound over the last seven days.
The child was very sick due to severe dehydration, and he had an uncompensated metabolic acidosis (pH 6.980, BE-25.5). Additional laboratory testing revealed hyperglycemia (glucose = 706 mg/dL) and ketosis (total ketone bodies = 13750 µmol/L), which suggested diabetic ketoacidosis. He could have died within several hours if left untreated.
Diagnosis and treatment
The staff professionals I consulted had never seen such a young infant with this clinical presentation. If the child had been older, diabetic ketoacidosis associated with type 1 diabetes mellitus may have been suspected. However, type 1 diabetes mellitus is very rare in neonates and infants.
I wondered if the infant had a congenital metabolic disease or a severe infection. I accessed UpToDate on a computer at our clinic. I searched for a possible diagnosis and appropriate treatment.
UpToDate helped me reach the correct diagnosis at first consultation — neonatal diabetes mellitus — an exceedingly rare disease with an incidence rate of 1 in 500,000. In this era of information overload, high- quality information curated from the viewpoint of clinicians is really valuable. For me, UpToDate has been a reliable companion from my days in training as a medical student and a resident, to the present, where I am a specialist and a teaching doctor.
