Indian J Pediatr DOI 10.1007/s12098-014-1422-7

CLINICAL BRIEF

Wolcott Rallison Syndrome: A Rare Inherited Diabetes Mellitus Shruti Khare & Manjunath Ramappa Goroshi & Sweta Budyal & Tushar Bandgar & Anurag Lila & Nalini Shah

Received: 14 October 2013 / Accepted: 19 March 2014 # Dr. K C Chaudhuri Foundation 2014

Abstract 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 WolcottRallison syndrome. Patient’s mother was heterozygous for the same mutation.

Keywords Neonatal diabetes mellitus . Liver dysfunction . Exocrine pancreatic deficiency . Skeletal dysplasia . Permanent non autoimmune diabetes mellitus

Introduction Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease. Neonatal/early-onset (within first 6 mo) permanent non autoimmune diabetes mellitus (PNDM) requiring insulin is the commonest feature and it is the commonest cause of neonatal DM in patients from consanguineous families. It is characteristically associated with skeletal dysplasia and liver disease [1].

S. Khare : M. R. Goroshi (*) : S. Budyal : T. Bandgar : A. Lila : N. Shah Department of Endocrinology, KEMH, Mumbai, Maharastra, India e-mail: [email protected]

Case Report 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. His perinatal course was uneventful, but milestones were delayed. At the age of 3 mo he had presented with polyuria, fever and vomiting. His random blood sugar was 631 mg/dL, C peptide level was 0.26 ng/mL and he was in ketoacidosis. Patient had been insulin dependent since then. From 4 y of age, he started having exaggerated gastrocolic reflex, recurrent diarrhea and oily stools. Patient was evaluated for the same and was found to have SGPT of 570 IU and SGOT of 110 IU with normal alkaline phosphatase. On examination he had verbal IQ of 54 and performance IQ of 60. On auxological examination his height was 87.5 cm (

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 consang...
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