ESPE Abstracts

Case 1: Twelve-year-old girl, presented with symptomatic hypoglycemia at the age of four. At six, she has type 1 diabetes mellitus (T1DM) started on insulin pump with excellent glycemic control. Genetic testing sent suspected MODY, revealed heterozygous variant in WFS1 gene, representing autosomal dominance inheritance. She screened for WFS associated disorder; negative.

Case 2: Eighteen-year-old male with T1DM on insulin since age of five. He had negative autoantibody markers. He has well controlled diabetes with minimal insulin doses. Hence, he had genetic test suspected MODY. It revealed homozygous variant in WFS1 gene. Screening for WFS associated morbidities, has bilateral optic nerve atrophy and sensorineural deafness (SND)which deteriorate with time, others are negative.

Case 3: Ten-year-old boy with T1DM on insulin since age of four. He had negative autoantibody markers. He has acynotic congenital heart disease (pulmonary stenosis). As has well controlled diabetes with minimal insulin doses, genetic test was requested thinking of MODY. It revealed homozygous variant in WFS1 gene. He screened for WFS associated disorder; negative.

Case 4: Ten-year-old girl with T1DM on insulin since age of two. She has negative autoantibody markers. She has global developmental delay, autism and seizure disorder since birth with severe neurological disabilities. There is consanguinity with positive family history of similar neurological features in two siblings but without diabetes. The genetic test was requested by neurologist as the family history is suggestive of an autosomal recessive inheritance. It revealed homozygous variant in WFS1 gene.

Case 5: Sixteen-Year-old male diagnosed with T1DM with negative antibody markers at age of Nine. He has Past medical history of pneumococcal meningitis at age of 5 months complicated with hydrocephalus, parents refused neurosurgical intervention. At age of 14 he developed poor school performance, unsteady gait, Fecal and urinary incontinence, poor vision and poor school performance. Evaluation revealed bilateral optic nerve atrophy, diabetes insipidus and SND. Genetic testing confirmed homozygous variant in the WFS1 gene.

Conclusion: Wolfram Syndrome is rare genetic syndrome but cases could be underdiagnosed. It is reasonable to increase awareness of WFS by reporting more cases in the region.