ESPE Abstracts (2016) 86 P-P2-290

Wolcott-Rallison Syndrome: Clinical Case Presentation

Viktoriya Furdela & Halina Pavlishin

Horbachevsky Ternopil State Medical University, Ternopil, Ukraine

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disease characterised by neonatal/earlier-onset non-immune insulin –requiring diabetes associated with skeletal dysplasia and growth retardation. WRS is caused by mutations in the gene encoding eukaryoutic translation initiation factor 2 a kinase (EIF2AK3), which plays a key role in translation control during the unfolded protein response. In the endocrinological department of Ternopil Childrens’ Hospital diabetic boy was admitted for usual checkup. He is full-term child from II physiological pregnancy and delivery, birth weight 2500 g. Neonatal period and family history are unremarkable. In age 2 mo he was hospitalized due to moderate dehydration and intoxication syndromes. Capillary blood glucose was 22 mmol/l, Hb1Ac =9.662%, C-peptide =0.27 ng/ml and manifestation of neonatal DM had been diagnosed. General condition of the child quickly proofed by combined insulin therapy. By genetic DNA analysis of parents and child blood novel EIF2AK3 gene missense mutation of exon 15 was revealed, which confirm the clinical diagnosis of WRS. Child growths and develops properly, but in age of 1 year was hospitalized to the resuscitation department due to development of acute liver failure and anasarca. He was treated for 3 weeks and recovered without defects. Now child is 1 year 10 mo. Physical development is proportional. He is on persistent insulin therapy by Actrapid and Protaphane 4 injection per day in dally dose 1.75 Units. Hb1Ac =8.32%. Blood analyses without pathological symptoms. For that moment signs of skeletal dysplasia are not remarkable. WRS should be suspected in any infant who presents with permanent neonatal diabetes associated with episodes of acute liver failure. Early diagnosis is recommended by molecular genetic testing, in order to ensure rapid intervention for episodes of hepatic failure, which is the most life threatening complication.

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