Endocrine Abstracts (2014) 36 P46 | DOI: 10.1530/endoabs.36.P46

Visual disturbance in diabetes mellitus: don't be blind to alternatives to retinopathy

Timothy Smith1, Anindya Mukerjee1, Sarah Ehtisham2 & Naomi Tomlinson1

1Royal Oldham Hospital, Pennine Acute NHS Trust, Oldham, Lancashire, UK; 2Central Manchester University Hospitals NHS Foundation Trust, Manchester, Greater Manchester, UK.

Introduction: We present the contrasting cases of two siblings diagnosed with Wolfram’s syndrome aged 2 and 10 years old. We discuss several family factors which have made management of this rare condition even more complex, emphasising the importance of holistic medicine.

Case: The older sibling was diagnosed with diabetes mellitus age 4. Parents struggled to cope with the diagnosis, however, and emotional and psychological support was offered. She developed visual difficulties at age 8, necessitating several Ophthalmology reviews. She was found to have impaired colour vision and significant bilateral optic disc pallor. Neurological examination and cranial MRI were normal. Blood tests found no mitochondrial DNA deletion to suggest Leber’s optic atrophy. Genetic analysis has subsequently revealed she is homozygous for the WFS1 gene mutation (type 1 Wolfram syndrome). Parents, first cousins, are heterozygous for WFS1.

Soon after, she reported polyuria and polydipsia, however pituitary function tests were normal and urinary investigations suggested symptoms were due to poor glycaemic control. A basal-bolus insulin regime provided better control, and she now has an insulin pump. Now age 13, she has developed diabetes insipidus.

At present hearing is ok, but parents have been counselled about the natural history of Wolfram’s syndrome, including eventual deafness. Her latest renal ultrasound is normal, though it is known that up to 90% have a urinary tract problem.1

The diagnosis of Wolfram syndrome caused further upset for parents, who struggled to tell the child the diagnosis. Communications are frequently difficult due to English language difficulties. A child psychologist is helping to address fluctuations in glycaemic control related to multiple family stresses. They have two younger children. One was diagnosed with type 1 diabetes mellitus aged 2½, and subsequent genetic analysis has shown he has Wolframs syndrome too. He does not currently have any evidence of optic atrophy, and hearing is normal.

Conclusion: Ophthalmic pathologies are well-recognised complications of diabetes mellitus, with retinopathy screening indicated at all ages.2 However, alternative ophthalmic/non-ophthalmic aetiologies must be considered. Additional diagnoses cause cumulative stresses on the child and family, which can hinder disease management.

References: 1. Genetics Home Reference. Wolfram syndrome (Internet) 2012 (cited 2014 July 2015) Available from URL: http://ghr.nlm.nih.gov/condition/wolfram-syndrome.

2. Forlenza GP & Stewart MW. Diabetic retinopathy in children. Pediatr Endocrinol Rev (Internet) 2013 (cited 2014 July 15) 10 (2) 217–26. Available from URL: http://www.ncbi.nlm.nih.gov/pubmed/235398331.

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