medwireNews: Researchers report two cases of children with severe and irreversible neurologic damage caused by complications at the time of neonatal diabetes diagnosis, highlighting the need for increased awareness of the condition.
Kashyap Patel (Royal Devon and Exeter NHS Foundation Trust, UK) and colleagues describe two patients who presented within weeks of birth with diabetic ketoacidosis and clinical symptoms of cerebral edema, requiring intensive care and prolonged hospitalization. At the age of 18 years, one has normal language skills but requires a wheelchair and assistance for transfers, washing, and dressing. The other patient, at the age of 29 years, needs assistance for all activities of daily living and can communicate only with single words and nodding.
Both cases had first-degree relatives who carried the same mutations (in ABCC8 and KCNJ11) but had developed normally, indicating that the patients’ disabilities arose from the complications of ketoacidosis rather than directly from the underlying genetic etiology. And no other patients with those mutations from a wider cohort of 125 patients with neonatal diabetes had developed such disabilities.
“Our cases highlight the need for increased awareness of neonatal diabetes and earlier and better initial treatment of the severe hyperglycaemia and ketoacidosis often seen at diagnosis of these children,” writes the team in Diabetic Medicine.
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