Neonatal diabetes mellitus (NDM) is a rare condition that presents with diabetes in the first few months of life. The treatment of NDM may differ depending on the genetic etiology, with numerous studies showing the benefit of sulfonylurea therapy in cases caused by mutations in
KCNJ11
or
ABCC8
. Mutations in the insulin gene (
INS
) have also been identified as causes of NDM; these cases are generally best treated with insulin alone. We report a case of a female infant born small for gestational age (SGA) at late preterm diagnosed with NDM at 7 wk of life who was found by rapid whole-genome sequencing to harbor a novel de novo c.26C>G (p.Pro9Arg) variant in the
INS
gene. She presented with diabetic ketoacidosis, which responded to insulin therapy. She did not respond to empiric trial of sulfonylurea therapy early in her hospital course, and it was discontinued once a genetic diagnosis was made. Early genetic evaluation in patients presenting with NDM is essential to optimize therapeutic decision-making.
OBJECTIVE
The authors sought to evaluate the contemporary management of pediatric open skull fractures and assess the impact of variations in antibiotic and operative management on the incidence of infectious complications.
METHODS
The records of children who presented from 2009 to 2017 to 6 pediatric trauma centers with an open calvarial skull fracture were reviewed. Data collected included mechanism and anatomical site of injury; presence and depth of fracture depression; antibiotic choice, route, and duration; operative management; and infectious complications.
RESULTS
Of the fractures among the 138 patients included in the study, 48.6% were frontal and 80.4% were depressed; 58.7% of patients underwent fragment elevation. The average duration of intravenous antibiotics was 4.6 (range 0–21) days. Only 53 patients (38.4%) received a single intravenous antibiotic for fewer than 4 days. and 56 (40.6%) received oral antibiotics for an average of 7.3 (range 1–20) days. Wounds were managed exclusively in the emergency department in 28.3% of patients. Two children had infectious complications, including a late-presenting hardware infection and a superficial wound infection. There were no cases of meningitis or intracranial abscess. Neither antibiotic spectrum or duration nor bedside irrigation was associated with the development of infection.
CONCLUSIONS
The incidence of infectious complications in this population of children with open skull fractures was low and was not associated with the antibiotic strategy or site of wound care. Most minimally contaminated open skull fractures are probably best managed with a short duration of a single antibiotic, and emergency department closure is appropriate unless there is significant contamination or fragment elevation is necessary.
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