Compulsive Repetitive Flexion With Breath-Holding in Sagging Brain Syndrome.

BACKGROUND AND OBJECTIVE

Spontaneous intracranial hypotension (SIH) from CSF leak commonly produces headache. It also may produce sagging brain syndrome (SBS), often with neurocognitive symptoms indistinguishable from behavioral-variant frontotemporal dementia (bvFTD). The authors describe a new clinical sign that appears to be pathognomonic of SBS.

METHODS

We reviewed medical records and brain imaging in patients seen at our 2 centers who presented with SIH, SBS, and bvFTD symptoms.

RESULTS

There were 51 patients (12 women, 39 men) with mean age 55.5 years (range, 26-70 years). MRI showed severe brain sagging in all. Thirteen patients displayed repetitive flexion with breath-holding at the time of clinical presentation. Five patients had repetitive flexion with breath-holding, which resolved before presenting for evaluation. Thus, 35.3% (18) of 51 patients with SBS displayed seemingly compulsive repetitive flexion with breath-holding.

DISCUSSION

Compulsive repetitive flexion with breath-holding appears to be pathognomonic of SBS, deserving the acronym CoRFBiS (compulsive repetitive flexion with breath-holding in SBS). CoRFBiS should alert the clinician to SBS with SIH as the proximate cause of the clinical constellation, rather than bvFTD.