Background: WolcottRallison syndrome (WRS) which is characterized with permanent neonatal diabetes mellitus (PNDM), epiphyseal dysplasia, recurrent hepatitis and is caused by EIF2AK3 mutations.
Objective and hypotheses: There is a possibility of a variant form of WRS, not caused by EIF2AK3 mutation.
Method: Case 1: She was born at term from consanguineous parents. Family history was unremarkable. She had been diagnosed as diabetes mellitus at 1 years old and had been on insulin therapy since then. Liver biopsy was performed due to recurrent hepatitis and was reported as unremarkable. She also had been on L-thyroxine theraphy with the diagnosis of hypothyroidism. At 7 years old, she was admitted to our hospital with the complaints of abnormal walking and hip pain, macroscopic steatore. Her pelvic X-ray films were consistent with skeletal dysplasia. Her weight was.kg (−4,5 SDS), height was 108 cm (−5.2 SDS). Laboratory tests revealed fT4: 1.08 ng/dl, TSH: 4.26 uIu/ml, AST: 73 IU/l, ALT: 76 IU/l, HbA1c: 9.2%. She had no retinopathy and microalbuminuria. She had mild mental retardation. Case 2: He was the brother of the first case. He was born at term after an uneventful pregnancy. Neonatal diabetes was diagnosed at 4 months of age and he was on insulin therapy since then. He was admitted to our hospital at 2 years old. His weight was 10 kg (−2,05 SDS), height was 96 cm (−2.65 SDS). Labotatory tests revealed HbA1c: 9.6%, liver and thyroid function tests were normal. His pelvic X-ray films were consistent with skeletal dysplasia.
Results: No mutation was determined at EIF2AK3 gene with sequence analysis. ABCC8, KCNJ11 ve INS genes were also examined and no mutations were also detected.
Conclusion: Genetic counselling of WRS in PNDM patients born from consanguineous parents is strongly recommended.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology