Updated 01 June 2015

Answer: What's your diagnosis? – Case 10

This week we meet Miss V, a teenager with type 1 diabetes, presenting with unusual signs and symptoms that, although seemingly unrelated, can all be attributed to a rare condition called Wolfram syndrome.


Mrs V took her 15-year-old diabetic daughter, Miss V, to their family doctor for a check-up. Read the full case study here.

Wolfram Syndrome is a rare genetic condition with four major components:

1.       Diabetes mellitus

2.       Diabetes insipidus: a condition where the kidneys are not able to conserve water

3.       Deafness

4.       Optic atrophy: the nerve connecting the eye to the brain wastes away

The exact cause of the condition is not clear, but studies showed that genetic mutations in certain genes may be the cause. 

In Miss V’s case, her type 1 diabetes was diagnosed at a young age – typical of Wolfram syndrome. Her diabetes appears to be controlled with random blood glucose of 7.8, but continuous monitoring is important. It is important to remember that the type of diabetes associated with Wolfram syndrome is not exactly the same as the type caused by auto-immune destruction of the insulin producing cells, although the management is the same.

Miss V’s frequent trips to the bathroom to pass urine might easily be missed due to the fact that she has diabetes and, as Mrs V said, her daughter drinks a lot of water. With diabetes insipidus, the pituitary gland does not effectively release the hormone vasopressin, which if important in controlling the body's water balance and urine production and output.

This will result in persistent thirst and frequent urination. The large volumes of very clear urine the doctor noted is typical of diabetes insipidus.  

Although teenagers like loud music, the fact that Miss V also appears to have hearing problems in class (misinterpret by the teacher as “ignoring her”), should be a matter for concern. Some studies report that up to 65 percent of people with Wolfram syndrome have some degree of deafness. The deafness usually has a gradual onset and may worsen to the point of complete deafness.

Worsening eyesight usually appears in the very early teens – at around 11 years of age. The pale disc is indicative of optic nerve pathology. Patients usually report colour vision and side vision problems.  Optic atrophy has a very poor outcome and some studies estimate complete blindness in the early twenties if onset is very early.

Wolfram is a rare condition, and not a simple straight forward diagnosis as the signs and symptoms do not present at the same time. A diagnosis of Wolfram is made with a very detailed medical history, clinical examination and special investigations.  

NOTE: Health24's on-site GP Dr Owen Wiese reveals new cases on Thursdays. The answer is posted with the story on Mondays, or you can get it on the Daily Tip – sign up here.

Previously on What's Your Diagnosis?

What's your diagnosis? – Case 1: vomiting and weight loss

What's your diagnosis? – Case 2: eye pain

What's your diagnosis -  Case 3: strange behaviour and a bullet in the back

What's your diagnosis - Case 4: seeing odd things

What's your diagnosis - Case 5: mysterious lungs

What's your diagnosis - Case 6: runner with seizures

What's your diagnosis - Case 7: swollen knee

What's your diagnosis - Case 8: bloody semen

What's your diagnosis - Case 9: confusing neurological signs

Image: Human eye anatomy, retina, optic disc, artery and vein from Shutterstock 


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