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67 Cryptic familial autonomic failure masked by a diagnosis of functional neurological disorder

jnnp · 2025-11-26 · canonical JSON source

5 visible annotations · policy: published · automated confidence ≥ 75.00%

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A 33-year-old woman with a 16-year-long diagnosis of functional neurological disorder with functional paraplegia and non-epileptic seizures was referred to our team for recurrent collapses which would always occur from standing and were accompanied by transient loss of consciousness, sometimes with urinary incontinence. Her symptoms had been limiting her daily activities severely and made her wheelchair bound.Initial investigations were unremarkable, but autonomic function testing was suggestive of cardiovascular adrenergic/sympathetic failure with neurogenic orthostatic hypotension, bilateral Horner syndrome and low circulating catecholamines including dopamine with no rise on orthostasis. She also had evidence of sudomotor, gastrointestinal and secretomotor failure. There was some preservation of parasympathetic cardiovagal control. Her sister - also under our care - has epilepsy and presented with similar symptoms with the same pattern of autonomic failure on testing.While the patient’s symptoms were initially interpreted within her functional neurological disorder diagnosis, we detected a concurrent, unusual, and possibly familial form of autonomic failure. Genetic confirmation is still underway; nevertheless, this case highlights the importance of adopting an empathetic approach and addressing the underlying complexities towards diagnosing autonomic failure in those with a coexisting diagnosis of functional neurological disorder.c.santucci@nhs.net