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

• Published in: Diabetic medicine 2017-07, Vol.34 (7), p.1000-1004
• Main Authors: Day, J. O., Flanagan, S. E., Shepherd, M. H., Patrick, A. W., Abid, N., Torrens, L., Zeman, A. J., Patel, K. A., Hattersley, A. T.
• Format: Article
• Language: English
• Subjects: Activities of daily living; Adolescent; Adult; Binding sites; Brain Edema - etiology; Brain Edema - physiopathology; Case Report; Case Reports; Children; Consciousness; Developmental Disabilities - etiology; Developmental Disabilities - physiopathology; Diabetes; Diabetes mellitus; Diabetes Mellitus - blood; Diabetes Mellitus - genetics; Diabetes Mellitus - physiopathology; Diabetic ketoacidosis; Diabetic Ketoacidosis - etiology; Diabetic Ketoacidosis - physiopathology; Diabetic Neuropathies - etiology; Diabetic Neuropathies - physiopathology; Diagnosis; Disabled Persons; Edema; Family Health; Female; Humans; Hyperglycemia; Hyperglycemia - etiology; Hyperglycemia - physiopathology; Intensive care; Ketoacidosis; Male; Medical diagnosis; Mutation; Neonates; Neurological complications; Neurological diseases; Newborn babies; Potassium; Potassium Channels, Inwardly Rectifying - genetics; Quadriplegia - etiology; Quadriplegia - physiopathology; Quality of Life; Seizures; Severity of Illness Index; Sulfonylurea Receptors - genetics
• ISSN: 0742-3071; 1464-5491
• DOI: 10.1111/dme.13328

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. What's new? The cases in this report show that children with neonatal diabetes can sustain irreversible neurological damage as a result of complications of ketoacidosis at diagnosis and not just because of the neurological phenotype caused by genetic mutations. Both cases presented with diabetic ketoacidosis, required intensive care and probably developed cerebral oedema, leading to severe permanent spastic tetraplegia. The long‐term neurological disability means they need intensive institutional or home support and so has a profound impact on their lives. 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.