Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome
- Nourieh Hoveydaa,
- Julian P H Shieldb,
- Christine Garrettc,
- W K ‘Kling’ Chongd,
- Kathryn Beardsalla,
- Esi Bentsi-Enchilla,
- Harish Mallyae,
- Michael H Thompsona
- aDepartment of Paediatrics, Luton and Dunstable Hospital, Lewsey Road, Luton LU4 ODZ, UK, bInstitute of Child Health, St Michael’s Hill, Bristol BS2 8BJ, UK, cKennedy-Galton Centre, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK, dDepartment of Neuroradiology, Hospital for Sick Children, Great Ormond Street, London WC1N 3JH, UK, eDepartment of Paediatrics, Stoke Mandeville Hospital, Mandeville Road, Aylesbury, Buckinghamshire HP21 8AL, UK
- Dr Garrett.
- Revised 9 April 1999
- Accepted 13 May 1999
Abstract
Classical neonatal diabetes mellitus is defined as hyperglycaemia occurring within the first six weeks of life in term infants. Cerebellar agenesis is rare. We report three cases of neonatal diabetes mellitus, cerebellar hypoplasia/agenesis, and dysmorphism occurring within a highly consanguineous family. This constellation of abnormalities has not previously been described. Two of these cases are sisters and the third case is a female first cousin. The pattern of inheritance suggests this is a previously undescribed autosomal recessive disorder. Prenatal diagnosis of the condition in this family was possible by demonstration of the absence of the cerebellum and severe IUGR.
