Background: Fatal Familial Insomnia (FFI) is an
autosomal dominant multisystem prion disease, with sleep disorders often
being the first presentation. Although autonomic dysfunctions are key
features, the frequency and timing vary between reports, and may accompany
early insomnia. Moreover, endocrine changes are reported, but diabetes
rarely is - with unclear timing of onset in relation to the insomnia.
Methods: N/A Results: Here
we present a 46-year-old previously healthy male, who within 22 months prior
to the onset of sleep disturbances, developed hypertension and diabetes.
Then within 3-4 months after onset of sleep disturbances development
tachycardia and diaphoresis. His sleep continued to deteriorate, and later
developed bulbar impairment, ataxia, diplopia, sleep apnea and cognitive
decline. He passed away 20 months from onset of insomnia. Polysomnography
showed status dissociates and central apnea. He had positive genetic
testing, PRNP c.532G>A (p.Asp178Asn) and PRNP c.385A>G (pMet129Val), a
pathological confirmation, and a positive family history
Conclusions: Here diabetes and hypertension
significantly preceded sleep disturbances, and tachycardia and diaphoresis
developed shortly after. This illustrates that dysautonomia and endocrine
dysfunction may be unrecognized prodromes in some cases of FFI, and could be
an early marker of clinical disease onset and therapeutic interventions,
especially in genetically confirmed asymptotic patients.