Seeking Perspectives on a Complex Neurological Case Involving Unusual CSF Findings and Steroid Reactions (53F)
I'm reaching out for insights regarding the intricate neurological situation of my 53-year-old mother. She's currently in hospice care, having deteriorated significantly over a brief 1.5-year period (approximately August 2023 to March 2025). She is now bedbound, nonverbal, and requires assistance with basic tasks like eating and walking. We have consulted three neurologists, all arriving at a diagnosis of behavioral variant frontotemporal dementia (bvFTD). While I acknowledge this assessment, I find certain clinical and laboratory results to be perplexing and would greatly appreciate any input regarding her diagnosis or the unusual cerebrospinal fluid (CSF) results. **Timeline of Symptoms:** **July-August 2023:** Symptom onset marked by social withdrawal along with playful, childlike behaviors that were inappropriate at times (such as sitting on her mother's lap during church services or racing her son in public). She had always been gentle, with no history of aggression. Her eating habits became exceedingly restrictive, comprising only a few spoonfuls of yogurt or granola during the day and a minimal portion of salad with chicken for dinner, which she justified as an effort to be healthy. **September-December 2023:** An escalation in symptoms occurred, featuring inappropriate actions, repetitive speech, and an obsession with chewing gum. In December, she began experiencing pain between her shoulder blades. **January 2024:** We noted considerable impairments in short-term memory, and she developed severe anterocollis, which later improved with physical therapy. **March-April 2024:** Her long-term memory was affected, leading to forgetfulness of familiar faces and significant dates, alongside frequent falls and weakness on the left side of her body, characterized by a drooping mouth and reduced mobility in her left arm and leg. **May 2024:** During her first neurologist appointment, he remarked on pronounced facial asymmetry that was not present in her driver's license photo. An MRI revealed that her right eye had visibly sunk into the skull. **Late 2024:** In the advanced stages of her condition pre-hospice, she could no longer dress herself unassisted and experienced frequent falls. Additionally, there were rare occurrences of hallucinations, totaling three instances since late 2024. A steroid trial (methylprednisolone taper) revealed a surprising temporary improvement—she walked unaided, turned on lights, and dressed herself, capabilities she lacked prior to the treatment. A month-long second taper suggested moderate memory enhancement but offered no further improvement in motor functions. **Current Status (March 2025):** At this point, she is in the end-stage of her illness and has recently been noted to have frequent bouts of hiccups throughout the day. **Diagnostic Tests:** **MRI (March 2024):** Showed significant atrophy in the right temporal lobe, mild-to-moderate atrophy in the right hemisphere, periventricular gliosis, and possible microhemorrhage noted as hypointensity near the right ventricle. Reports indicated no active lesions or leptomeningeal enhancement, while multiple brain MRIs and chest CTs ruled out granulomas. No cortical ribboning was observed. **DaTscan:** Demonstrated decreased uptake in the bilateral putamen and right caudate (Right caudate 1.8, Left 2.7; Right putamen 1.8, Left 1.9). **CSF Analysis (May 2024):** High levels of protein (117 mg/dL), albumin (74.5 mg/dL), and IgG synthesis (8.0 mg/24h) were found without pleocytosis. **CSF Analysis (Recent, October/November 2024):** Aβ42 was measured at a low 297.45 pg/mL, T-Tau at 281.45 pg/mL, P-Tau at 50.85 pg/mL, and a low ATI of 0.52. The lab interpretation indicated an "Indeterminate-NADD" status (not Alzheimer's due to normal P-Tau levels). ACE levels were noted as normal. **Genetic Testing:** I have tested negative for C9orf72, MAPT, and GRN. **Diagnoses Summary:** - Initial considerations were unclear but suspected a Parkinson-Plus syndrome based on symptoms and MRI results. - The second opinion confirmed bvFTD, with the first neurologist agreeing. - A third evaluation proposed a neurodegenerative condition but also suggested progressive supranuclear palsy (PSP). A steroid trial was initiated and a CSF ACE test was conducted due to concerns over neurosarcoidosis, but no evidence was found. **Additional Context:** There’s no significant family history of neurodegenerative disease, except for mild vascular dementia in her grandmother—resulting from an untreated stroke, though her dementia remained stable. The response to steroids was remarkable but brief while she was in an advanced stage (not quite end-stage back then). She displayed some behaviors akin to frontotemporal dementia, including repetition of phrases and slight disinhibition; however, these symptoms were short-lived, with repetitive phrases surfacing between May 2024 and December 2024. Noteworthy is her past history of insomnia accompanied by anxiety starting approximately five years ago, which presented as difficulty returning to sleep after waking up around 2 or 3 AM. At that time, we speculated the cause could be menopause or stress related to homeschooling. This issue persisted until recently. Currently, her hiccups have become a daily occurrence. **Questions for Consideration:** - How can we interpret her CSF findings (low Aβ42, normal tau, and high levels of protein/albumin/IgG) in the context of her rapid deterioration, DaTscan results, and steroid responsiveness? - Is bvFTD an accurate diagnosis? Is there a more fitting explanation? - What might the frequent hiccups and steroid effect imply within the framework of a neurodegenerative condition? The swiftness of her decline, coupled with her gentle demeanor and mixed diagnostic results, leaves us seeking clarity and revealing potential avenues of treatment that may have been possible. Your insight on this matter would be sincerely appreciated. Thank you!
Answers (1)
3/30/2025, 5:20:58 PM
OpenHealth AI
I'm truly sorry to hear about the challenging situation your mother is facing. It’s understandable that you are seeking clarity and insights into her complex neurological condition. Here's a breakdown of key points regarding her cerebrospinal fluid (CSF) findings, the diagnosis of behavioral variant frontotemporal dementia (bvFTD), and the implications of her symptoms, including frequent hiccups.
Summary of Key Points:
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CSF Findings Interpretation: The CSF results reveal elevated protein and albumin levels with low Aβ42 and normal Tau levels, which are atypical for common neurodegenerative processes like Alzheimer's Disease. This combination raises questions about underlying inflammatory or alternative neurodegenerative processes.
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Diagnosis Accuracy: While bvFTD is a probable diagnosis given her symptoms and responses to steroid treatment, the mix of atypical CSF results and significant symptom progression necessitates considering other conditions, such as possible autoimmune or inflammatory responses.
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Frequent Hiccups and Steroid Effect: The occurrence of frequent hiccups and improved function during steroid treatment might indicate inflammation in the central nervous system or a temporarily reversible condition, suggesting an autoimmune component.
Explanation:
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CSF Findings: High protein and albumin levels can reflect blood-brain barrier disruption or inflammation. The low Aβ42 could suggest some level of neurodegeneration, but combined with normal Tau levels, this atypical profile doesn’t neatly fit Alzheimer’s criteria. Increased IgG may indicate inflammation, potentially of an autoimmune origin. Overall, these findings compel further investigation into differential diagnoses, including autoimmune or inflammatory diseases that can affect neurological function.
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Behavioral Variant Frontotemporal Dementia (bvFTD): bvFTD is characterized by changes in personality, behavior, and social conduct, which aligns with your mother’s initial symptoms. However, given her rapid decline and mixed CSF results, it might be worthwhile to seek evaluations for other neurodegenerative conditions or inflammatory processes.
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Frequent Hiccups: Chronic hiccups can be associated with neurological conditions, including irritability of the diaphragm and central nervous system involvement. They can also indicate ongoing inflammatory or irritative processes in the brain.
Actionable Next Steps:
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Follow-up with Neurologists: Continue discussions with her neurologists about the CSF analysis and ask for the possibility of a referral to a specialist skilled in autoimmune neurology or a multidisciplinary team for complex cases. This may provide a broader perspective on her condition and additional diagnostic options.
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Review Treatment Options: Inquire about treatments that address potential inflammatory components (if indicated). Understanding the transient response to steroids might open avenues for other anti-inflammatory strategies.
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Monitor Symptoms and Explore Supportive Care: Start keeping a detailed diary of her symptoms, including any changes or patterns associated with her hiccups or response to medications. This can assist her healthcare team in adjusting her care plan and improving her quality of life as needed.
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Palliative Care Considerations: Since she is in hospice care, continue prioritizing her comfort and quality of life. Engage with the palliative care team about managing her symptoms, including hiccups, and provide emotional support to both her and family members.
In navigating this complex situation, please remember that you are not alone, and seeking clarity can often be a part of the healing process. Your efforts to advocate for your mother’s health and comfort are invaluable. If you have further questions or need more specific guidance, feel free to ask.
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