Brain sagging syndrome presenting with chorea

Abstract

atient 1 is a 42-year-old previously well man on no medications who presented to neurology clinic with 6 months of nonpositional chronic daily headache, hiccups, and behavior change. His wife reported impulsivity, disinhibition, and sexually inappropriate behavior. There was no family history of movement disorder or neurodegenerative disease. Six weeks prior to symptom onset, he had fallen 1 meter onto his back. Vital signs, bloodwork, and general examination were normal. He was disinhibited and inattentive and exhibited orofacial, tongue, and limb choreoathetosis, which worsened over 6 months of follow-up (video at Neurology.org/cp). MRI was consistent with brain sagging syndrome; basal ganglia were subtly deformed, but without signal disturbance (figure). CSF opening pressure was 18 cm H 2 O. A spinal CSF leak could not be located with conventional MRI, CT myelography, or radionuclide cisternography. Oral methylprednisolone, continuous epidural saline infusion, theophylline, and 2 lumbar epidural blood patches yielded no sustained improvement. Fat saturated MRI revealed a probable CSF leak at T4, but CT-guided T4 epidural blood patch was unsuccessful. He awaits surgical exploration. Patient 2 is a 64-year-old man with hyperlipidemia and previous C6/7 fusion who reported nine months of worsening dysarthria, dysphagia, hiccups, and orthostatic headaches. Examination revealed nasal speech. Gag reflex, tongue power, and other cranial nerves were normal. Choreoathetoid orofacial, tongue, and limb movements were evident (video). Imaging confirmed brain sagging and normal basal ganglia (figure). Lumbar puncture was not performed. Spinal MRI and CT myelography failed to detect a CSF leak. Two separate lumbar blood patches produced temporary improvement in speech and chorea, but this was not sustained.

Brain Sagging Dementia—Diagnosis, Treatment, and Outcome

“…Although their minor complaints of headache may mask the seriousness of the disease, patients with BSD have behavioral changes and lack of insight that can lead to poor decision-making with serious actions such as sexual assault and felony. [5][6][7]16,32,34,35,37 Some limitations to this review should be noted. First, given the rarity and limited awareness of BSD among physicians, reports might have been missed or excluded due to lack of proper case presentation, especially regarding behavioral and cognitive changes and duration of the symptoms.…”

“…Although their minor complaints of headache may mask the seriousness of the disease, patients with BSD have behavioral changes and lack of insight that can lead to poor decision-making with serious actions such as sexual assault and felony. 5-7,16,32,34,35,37…”

“…8,16,21,[27][28][29][30][31][32][33] A decline in social and interpersonal conduct, including bizarre behavior and social and sexual inappropriateness, was a prominent future in most reports. [5][6][7][8]16,17,[29][30][31][32][33][34][35][36][37] In contrast to bvFTD, 60% of patients with BSD also presented with cerebellar symptoms such as ataxia, gait disturbance, and dysarthria. [6][7][8]16,17,21,22,24,25,[27][28][29][30]32,[36][37][38][39] Therefore, the clinical pictures of BSD and bvFTD differ.…”

Spontaneous Intracranial Hypotension Presenting With Frontotemporal Dementia: A Case Report

“…However, the reported symptoms in these case studies were not as wide-ranging as the symptoms in our case, nor was there any mention of sleep attacks or speech-related problems in any of the previous reports. Another report described a patient with brain sagging syndrome who presented with choreoathetosis, which may have been more severe than our patient's chorea ( 16 ). In addition, our patient improved more slowly than patients in previously reported cases; therefore, it is possible that she had the condition for a longer duration.…”

Reversible Amnestic Cognitive Impairment in a Patient With Brain Sagging Syndrome

“…In its original description, cognitive impairment was reported in all cases, but behavioral disturbances with disinhibition were the most prominent clinical features, including sexual inappropriateness, aggressive behavior, and apathy. 1,2 Other clinical features included dysarthria, dysphagia, ocular abnormalities, and movement disorders (e.g., gait impairment, tremor, tics, and dyskinesias). 1 In our patient, although apathy was present, no behavioral disinhibition was endorsed, and her most prominent complaints were memory and attentional difficulties.…”