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Uncommon ConsiderationsParry Romberg Syndrome
Antiphospholipid Antibody SyndromeCharles Bonnet Syndrome
PLUS:Concise Report: One Bonus Condition!
“We’re always qualifying our conclusions by reminding people that the brain is extremely complex and difficult to understand—and it is,” says Philip Tenyer of Harvard University, “but we’ve also been a little lazy. It is just easier to bluff our way through some of it. That’s one perk of being a respected neuroscientist—you can pretty much say whatever you want about the brain because so few people, including other neuroscientists, understand what you’re talking about in the first place. As long as you throw in enough jargon, it sounds science-y and legit and stuff.”
Neuroscience Fact:
http://blogs.scientificamerican.com/observations/neuroscientists-we-dont-really-know-what-we-are-talking-about-either/
Parry Romberg Syndromeo Progressive disorder
o Loss of dermal and subcutaneous fat of the face
o Hyperpigmentation (‘coup de sabre’) o Alopecia of areas overlying the
atrophied tissueo Estimated prevalence 1 : 700,000 o Females : males ~ 3 : 1
Neuropathology and Pathophysiology
o Postulated: oAutoimmune disorderoMaldevelopment of neural crestoGenetic predisposition
disturbing (central or peripheral) facial development
o Inflammatory disease
Radiological Findingso CT and MRI tend to be negative or
idiopathic; generalizability is limited
o Most frequent findingso Subcortical hyperintensitieso Intracranial calcificationo Blurring of white and gray matter o Cerebral hemiatrophy of affected
side
Neuropsychological and Clinical Presentation
o Comorbid/secondary seizure disordero Almost no discussion of neuro testing
o Positive changes in cognitive scores following treatment of seizures(?)
o Impaired motor functioning contralateral to side of hemiatrophy
o Recommend therapy: possible secondary MDD, BDD
PRS: Why Do We Care?
o Clearly affects CNS/PNSo May impact long-term
functioning (e.g., social, employment)
Antiphospholipid Antibody Syndrome
o Hypercoagulability of the blood causing:o Large vessel venous and/or arterial
occlusions. o Thromboses will commonly result in
TIA, CVA, and MIo Recurrent pregnancy loss not
uncommon
Neuropathology and Pathophysiology
o Exact causative mechanism uncertaino aPLs implicated: syndrome and
associated cognitive sequelae (necessary but not sufficient)
o Pathophysiological findings in CAPS: o Multiple occlusions o Organ system failures
Radiological Findings
o MRI in one study revealed a nonsignificant percentage of abnormalities in APS positive patients.
o Most frequently noted: diffuse and focal ischemic changes
Neuropsychological and Clinical Presentation
o Thromboses associated with secondary cognitive and physiological sequelae. o Choreoform, mood lability, psychosiso Cognitive impairment dependent on
site(s) of insulto APS symptomatic vs. asymptomatic:
worse on several Neuro Ψ tests
Neuropsychological and Clinical Presentation
o Cognitive deficits include impaired:o Attentiono Verbal fluency o Verbal and visual memory o Executive functioningo Processing speed
APS: Why Do We Care?
o For the same reasons we care about other cerebrovascular insults
Charles Bonnet Syndromeo Older adultso General criteria:
o 1. Formed or complex visual hallucinations
o 2. Pathological visual loss o 3. Normal cognitive functioning
o Prevalence: 0.4% - 27% of patients with impaired vision
Neuropathology and Pathophysiology
o Impairment of normal vision/sensory input due to various conditions o Age-related macular degeneration
(AMD), diabetic retinopathy, glaucoma, cataract
o Visual degeneration not necessary, but rarely absent as a clinical feature
Radiological Findings
o CT and MRI – negative or incidental
o fMRI – "within or around the fusiform gyrus.”
o PET – temporal, corpus striatum, thalamus
Neuropsychological and Clinical Presentation
o WNL on Verbal/non-visually loaded tests
o ns relationship between cognitive scores and CBS
o 100%: “glad to hear I’m not crazy”
CBS: why do we care?
o Reluctant to inform clinicians due to stigma
o Misdiagnosis = psychosiso Related visual impairments
(e.g., MD, glaucoma) can deflate test scores
Amyloid Angiopathy
o Cause: accumulation of beta-amyloid in small- and medium-sized cerebral arteries.
o Common outcome: spontaneous, recurrent, cortical and/or subcortical hemorrhage.
o Post mortem: found in slightly less than 50% of individuals over age 80 years
o Also noted in those with SDAT
Amyloid Angiopathy: it can strike anywhere. And often.
o Recurrent intracerebral haemorrhage after coitus: A case report of sporadic cerebral amyloid angiopathy in a younger patient. o (Ehling, Helbok, Beer, Lackner, Broessner, Pfausler, et al., 2012. European
Journal of Neurology, 19 (3) e29-e31)
