Wolcott Rallison syndrome: a rare inherited diabetes mellitus.
A 9-y-old boy was referred to authors' institute for the management of insulin dependent diabetes mellitus. He was the product of third degree consanguineous marriage and was delivered by full term vaginal delivery with a birth weight of 2.75 kg. At 3 mo of age, he had presented with diabetic ketoacidosis and was on insulin regimen. Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia. At the age of 9 y, patient was diagnosed to have cirrhosis of liver. Genetic analysis revealed homozygous EIF2AK3 nonsense mutation. It confirmed the diagnosis of Wolcott-Rallison syndrome. Patient's mother was heterozygous for the same mutation.
Department of Endocrinology, KEMH, Mumbai, Maharastra, India.
Shruti
S
Khare
Manjunath Ramappa
MR
Goroshi
Sweta
S
Budyal
Tushar
T
Bandgar
Anurag
A
Lila
Nalini
N
Shah
D002648:Child; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D004838:Epiphyses / Q000002:abnormalities*; D006801:Humans; D007194:India; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics