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



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.



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.
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
J O
0000-0002-6020-510X
JO
Day
Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
S E
SE
Flanagan
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.|National Institute for Health Research (NIHR) Exeter Clinical Research Facility, Exeter, UK.
M H
MH
Shepherd
Edinburgh Centre for Endocrinology and Diabetes, NHS Lothian, Edinburgh, UK.
A W
AW
Patrick
Royal Belfast Hospital for Sick Children, Belfast, UK.
N
N
Abid
Neuroport Ltd, Didcot, UK.
L
L
Torrens
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.|Cognitive and Behavioural Neurology, University of Exeter Medical School, Exeter, UK.
A J
AJ
Zeman
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.|Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.|National Institute for Health Research (NIHR) Exeter Clinical Research Facility, Exeter, UK.
K A
KA
Patel
Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.|Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.|National Institute for Health Research (NIHR) Exeter Clinical Research Facility, Exeter, UK.
A T
AT
Hattersley
D000293:Adolescent; D000328:Adult; D001929:Brain Edema / Q000209:etiology* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000209:etiology* / Q000503:physiopathology; D003920:Diabetes Mellitus / Q000097:blood / Q000235:genetics / Q000503:physiopathology*; D016883:Diabetic Ketoacidosis / Q000209:etiology* / Q000503:physiopathology; D003929:Diabetic Neuropathies / Q000209:etiology* / Q000503:physiopathology; D006233:Persons with Disabilities; D005192:Family Health; D005260:Female; D006801:Humans; D006943:Hyperglycemia / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D011782:Quadriplegia / Q000209:etiology* / Q000503:physiopathology; D011788:Quality of Life; D012720:Severity of Illness Index; D064233:Sulfonylurea Receptors / Q000235:genetics; D000099161:Kcnj11 Channel
D024661:Potassium Channels, Inwardly Rectifying; D064233:Sulfonylurea Receptors; D000099161:Kcnj11 Channel; C577507:ABCC8 protein, human