Physician's Assistant

Referral Wed 31 December 2025 15:38

Last Modified: 96 days ago

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Content:

Investigations:
CT head and CTA: Negative for stroke
CT thorax, abdomen and pelvis: Dilated fluid-filled oesophagus, possible indeterminate right renal lesion, possible right-sided bladder thickening, multiple bony metastases

Thank you for referring this 60-year-old gentleman with a complex presentation. He has a known ATP1A3 gene mutation causing dysphagia, cerebellar ataxia, and sensorineural hearing loss. He initially presented with acute expressive and receptive dysphagia concerning for stroke.

CT has revealed a dilated fluid-filled oesophagus with likely distal oesophageal tumour, along with possible metastatic disease including renal lesion, bladder thickening, and multiple bony metastases. He reports 6 months of progressive dysphagia with 2 stone weight loss and is currently unable to eat solids, managing only small amounts of fluids.

Given his baseline functional independence and the need for tissue diagnosis, we have discussed the appropriateness of nutritional support during the diagnostic workup, despite the likely advanced nature of his disease.

Impression:
Likely advanced oesophageal carcinoma with metastatic disease in a patient with underlying ATP1A3 gene mutation

Suggest:
1. Urgent OGD with biopsy for tissue diagnosis
2. Consider placement of feeding tube during endoscopy for nutritional support
3. Upper GI MDT referral
4. Coordinate with urology regarding renal and bladder findings
5. Speech and language therapy swallow assessment

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Summary:

Investigations:

Referral Wed 31 December 2025 15:38

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