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Updated 12 May 2015

Answer: What's your diagnosis? - Case 9

In our latest case, Mrs P, a teacher, presented with strange neurological signs and symptoms. Although further investigations are needed, it seems that her signs and symptoms are due to a paraneoplastic syndrome.

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Last week we met Mrs P, presenting with confusing neurological signs and symptoms, at the emergency unit of her local hospital. Read the full case here.

History is important

A full medical history is vital to solving this case. The fact that Mrs P does have a family history of cancer is very important. She also reported weight loss over the past four months despite not having any medical or surgical history. Unexplained weight loss always warrants further investigation. In this case, extensive enquiry was needed to put the weight loss in context.

Paraneoplastic syndromes

Paraneoplastic syndromes are rare disorders where the body launches an abnormal immune response to an underlying cancer. Substances produced by the tumour can then cause distant effects like neurological, metabolic or endocrine symptoms and signs. The cancer is often not apparent and only diagnosed after extensive investigations.

In Mrs P’s case it is very likely that she has a paraneoplastic syndrome, more specifically a Paraneoplastic Cerebellar Degeneration (PCD). The cerebellum is important for the coordination of movement, posture, balance and speech. By controlling these functions, it allows us to move freely and maintain our balance. This will explain the tremor and why she was not able to keep her balance. Her initial complaint of objects moving up and down can also be explained by oscillopsia (where objects appear to oscillate).

Fever is often the most common presenting sign and symptom of paraneoplastic syndromes, but it is important to exclude other infective causes (of the fever).

With the sudden onset of unexplainable neurological symptoms it is important to exclude life-threatening causes like brain bleeds and strokes. Imaging studies (like CT and MRI scans) might be completely normal in the early stages of the syndrome. Referring to a neurologist will exclude any missed neurological explanation for the symptoms and signs.

It is important to remember that a multidisciplinary approach is necessary to diagnose paraneoplastic syndromes. The malignant (cancerous) cause should, of course, also be found and treated.

Summary

Mrs P is most probably presenting with a paraneoplastic syndrome. The source of the malignancy needs to be located. Based on her history it is most likely gynaecological in origin. The signs and symptoms suggestive of Paraneoplastic Cerebellar Degeneration (PCD), further points to a cancer with gynaecological origins as PCD is often found with malignancies of the uterus, ovaries, breast and lung.

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

Image: Close-up view of a cancer cell from Shutterstock

 
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