Hyperglycaemia-related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes.

BACKGROUND: Children with neonatal diabetes often present with diabetic ketoacidosis and hence are at risk of cerebral oedema and subsequent long-term neurological deficits. These complications are difficult to identify because neurological features can also occur as a result of the specific genetic aetiology causing neonatal diabetes. CASE REPORTS: We report two cases of neonatal diabetes where ketoacidosis-related cerebral oedema was the major cause of their permanent neurological disability. Case 1 (male, 18 years, compound heterozygous ABCC8 mutation) and case 2 (female, 29 years, heterozygous KCNJ11 mutation) presented with severe diabetic ketoacidosis at 6 and 16 weeks of age. Both had reduced consciousness, seizures and required intensive care for cerebral oedema. They subsequently developed spastic tetraplegia. Neurological examination in adulthood confirmed spastic tetraplegia and severe disability. Case 1 is wheelchair-bound and needs assistance for transfers, washing and dressing, whereas case 2 requires institutional care for all activities of daily living. Both cases have first-degree relatives with the same mutation with diabetes, who did not have ketoacidosis at diagnosis and do not have neurological disability. DISCUSSION: Ketoacidosis-related cerebral oedema at diagnosis in neonatal diabetes can cause long-term severe neurological disability. This will give additional neurological features to those directly caused by the genetic aetiology of the neonatal diabetes. 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.

Asymptomatic Bartter's syndrome.

A 63-year-old man had asymptomatic Bartter's syndrome, discovered during evaluation for hypokalemia. Elevated plasma renin and aldosterone levels, angiotension resistance, and elevated urinary prostaglandin excretion were noted. Tubular function studies implicated the proximal tubule as the site of a mild sodium reabsorption defect, and renal wasting of potassium and magnesium were also noted. Indomethacin therapy lowered the urinary prostaglandin excretion and the renin and aldosterone levels but did not correct the hypokalemia. Spironolactone therapy resulted in normalization of serum potassium but not serum magnesium levels. Bartter's syndrome may result from various causes but renal wasting of sodium, potassium and/or magnesium probably exist in all cases. Unexplained, asymptomatic hypokalemia in any age group may be due to Bartter's syndrome.