Abstract
Wolcott-Rallison Syndrome is a rare autosomal recessive disease, characterized by neonatal diabetes associated with skeletal dysplasia and growth retardation; fewer than 60 cases have been reported in the literature, although Wolcott-Rallison Syndrome is the most common cause of neonatal diabetes in consanguineous parents. Here we present a case of Wolcott-Rallison Syndrome in a two year old male child born to consanguineous parents who was diagnosed to have neonatal diabetes, developmental delay, microcephaly, seizures, congenital heart disease and hypothyroidism. Genetic testing was sent for the patient and his parents to Molecular Genetics Laboratory - Peninsula Medical School - University of Exeter-UK. The result of the genetic testing reports a homozygous EIF2AK3 gene mutation in the patient and heterozygous mutation in both parents. The patient was screened for other features of Wolcott-Rallison Syndrome, including skeletal survey for skeletal dysplasia which was not present in early life and recognized later. The genetic testing for patients with neonatal diabetes is of great importance for definite diagnosis, detecting associated findings, complications and even treatment. It is mandatory for family planning.
Published Version
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