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Hyperglycaemia‐related complications at the time of diagnosis can cause permanent neurological disability in children with neonatal diabetes
Author(s) -
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.
Publication year - 2017
Publication title -
diabetic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.474
H-Index - 145
eISSN - 1464-5491
pISSN - 0742-3071
DOI - 10.1111/dme.13328
Subject(s) - medicine , pediatrics , diabetes mellitus , diabetic ketoacidosis , etiology , ketoacidosis , neurological examination , spastic quadriplegia , tetraplegia , cerebral palsy , type 1 diabetes , intensive care medicine , surgery , physical therapy , endocrinology , psychiatry , spinal cord , spinal cord injury
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 ABCC 8 mutation) and case 2 (female, 29 years, heterozygous KCNJ 11 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.