J Med Genet 1999;36:700-704 ( September )

Short report

Neonatal diabetes mellitus and cerebellar hypoplasia/agenesis: report of a new recessive syndrome Nourieh Hoveyda^a, Julian P H Shield^b, Christine Garrett^c, W K `Kling' Chong^d, Kathryn Beardsall^a, Esi Bentsi-Enchill^a, Harish Mallya^e, Michael H Thompson^a

^a Department of Paediatrics, Luton and Dunstable Hospital, Lewsey Road, Luton LU4 ODZ, UK, ^b Institute of Child Health, St Michael's Hill, Bristol BS2 8BJ, UK, ^c Kennedy-Galton Centre, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK, ^d Department of Neuroradiology, Hospital for Sick Children, Great Ormond Street, London WC1N 3JH, UK, ^e Department of Paediatrics, Stoke Mandeville Hospital, Mandeville Road, Aylesbury, Buckinghamshire HP21 8AL, UK

Correspondence to: Dr Garrett.

Revised version received 9 April 1999; Accepted for publication 13 May 1999

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.


Keywords: cerebellar agenesis/hypoplasia; neonatal diabetes mellitus; dysmorphic features; autosomal recessive

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© 1999 by J Med Genet
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