Publications
Partners
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:
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
