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My Mother Was Seen As Planned In May 2019, And
Question: My mother was seen as planned in May 2019, and has since had the following results reported. The NHS here in the UK cannot now see my Mother until May 2020 (due to strain and long waiting lists) and we are still without a diagnosis. These investigations and reviews have been on-going since November 2017.
Please could you give your opinion taking into account all of her thorough testing so far as reported above (in text and attachments) as well as this new information below.
As you had difficulty accessing the attached documents, i have copied and pasted the new information as before.
"8th May Review by neurologist"- noted "slightly clumsier than the last time we saw her, speech has become a little more slurred. On examination, cerebellar dysarthria, jerky pursuit eye movements but saccades normal. In the upper limbs, the finger-nose ataxia more noticeable than before. In lower limbs, knee jerks were brisk bilaterally which was in contrast to all of her other deep tendon reflexes which were normal. Her right ankle jerk however was absent. Both plantar reposonses were flexor and sensation was normal in all modalities. PET scan of head showed dramatic hypometabolism throughout the cerebellum with normal cerebral metabolism. This is in line with the MRI scan which showed severe focal cerebellar atrophy. There is a possibility that the atrophy is paraneoplastic possibly related to lung abnormality, however no antibodies have been observed and the neurological picture has been slowly progressive which is unusual for a paraneoplastic condition."
-Spinocerebellar Ataxia Profile, 1,2,3,6,7, and 17 - No expansion mutations detected.
-Huntingtons Gene Analysis - No expansion mutation detected
-C9org72 - No expansion mutation detected
-Vitamin E - 31.5 (11.6-35.5 range)
-VTE/LIPID ratio = 4.3 (deficient if ratio is <2.1)
-Gluten RAST = 0.02 kUA/L (<0.35) normal
-IgA = 1.87 (0.8-3.0 range) normal
-Tissu Transglutaminase IgA level = 2.3 (<19.9 is normal)
-CSF results (These were pending when we last communicated but have since been reported)
Total Tau 219 (range 146-595)
A-Beta 1-42 1351 (range 627-1322)
Tau/abeta ratio 0.16 (range <1.00)
Fixed NMDAR - NEGATIVE
GAD AB - NEGATIVE
Anti GABAb Rec -NEGATIVE
Live NMDAR - NEGATIVE
Yo/Hu/Ri AB - NEGATIVE
Anti AMPA 1+2 - NEGATIVE
Outstanding = CSF for Caspr2 - PENDING
Repeat CT (3 month interval) 24/Jun/2019 reported:
"The irregular sub solid nodule within the lateral right middle lobe is unchanged. There is a further area of groundglass with central solid density within the posteriorly left lower lobe. This
was probably obscured within atelectasis on previous CT scan. No further pulmonary nodule or mass. The pleura and pleural spaces are normal.
No mediastinal mass or lymphadenopathy. The visualised upper abdomen is normal. The supraclavicular and axillary regions are normal. No
chest wall abnormality. No bone infiltration is present."
We really can't wait until May 2020 to get a diagnosis. Could this just represent an Ataxia without a known cause? It doesn't sound like from the repeat CT of chest that there is any malignancy - so would this rule out paraneoplastic syndrome?
For your reference the conversation thread
https://doctor.healthcaremagic.com/AskDoctorInboxServlet?page=viewQuery&queryId=382637
Many thanks in advance.
Please could you give your opinion taking into account all of her thorough testing so far as reported above (in text and attachments) as well as this new information below.
As you had difficulty accessing the attached documents, i have copied and pasted the new information as before.
"8th May Review by neurologist"- noted "slightly clumsier than the last time we saw her, speech has become a little more slurred. On examination, cerebellar dysarthria, jerky pursuit eye movements but saccades normal. In the upper limbs, the finger-nose ataxia more noticeable than before. In lower limbs, knee jerks were brisk bilaterally which was in contrast to all of her other deep tendon reflexes which were normal. Her right ankle jerk however was absent. Both plantar reposonses were flexor and sensation was normal in all modalities. PET scan of head showed dramatic hypometabolism throughout the cerebellum with normal cerebral metabolism. This is in line with the MRI scan which showed severe focal cerebellar atrophy. There is a possibility that the atrophy is paraneoplastic possibly related to lung abnormality, however no antibodies have been observed and the neurological picture has been slowly progressive which is unusual for a paraneoplastic condition."
-Spinocerebellar Ataxia Profile, 1,2,3,6,7, and 17 - No expansion mutations detected.
-Huntingtons Gene Analysis - No expansion mutation detected
-C9org72 - No expansion mutation detected
-Vitamin E - 31.5 (11.6-35.5 range)
-VTE/LIPID ratio = 4.3 (deficient if ratio is <2.1)
-Gluten RAST = 0.02 kUA/L (<0.35) normal
-IgA = 1.87 (0.8-3.0 range) normal
-Tissu Transglutaminase IgA level = 2.3 (<19.9 is normal)
-CSF results (These were pending when we last communicated but have since been reported)
Total Tau 219 (range 146-595)
A-Beta 1-42 1351 (range 627-1322)
Tau/abeta ratio 0.16 (range <1.00)
Fixed NMDAR - NEGATIVE
GAD AB - NEGATIVE
Anti GABAb Rec -NEGATIVE
Live NMDAR - NEGATIVE
Yo/Hu/Ri AB - NEGATIVE
Anti AMPA 1+2 - NEGATIVE
Outstanding = CSF for Caspr2 - PENDING
Repeat CT (3 month interval) 24/Jun/2019 reported:
"The irregular sub solid nodule within the lateral right middle lobe is unchanged. There is a further area of groundglass with central solid density within the posteriorly left lower lobe. This
was probably obscured within atelectasis on previous CT scan. No further pulmonary nodule or mass. The pleura and pleural spaces are normal.
No mediastinal mass or lymphadenopathy. The visualised upper abdomen is normal. The supraclavicular and axillary regions are normal. No
chest wall abnormality. No bone infiltration is present."
We really can't wait until May 2020 to get a diagnosis. Could this just represent an Ataxia without a known cause? It doesn't sound like from the repeat CT of chest that there is any malignancy - so would this rule out paraneoplastic syndrome?
For your reference the conversation thread
https://doctor.healthcaremagic.com/AskDoctorInboxServlet?page=viewQuery&queryId=382637
Many thanks in advance.
Brief Answer:
In some cases the cause of ataxia remains unknown.
Detailed Answer:
Hello and welcome to "Ask a Doctor " service.
I have read your query and the test results that you wrote.
In my opinion, in this case is clear that cerebellar ataxia is the diagnosis regarding the neurological findings and mainly the imaging tests results.
In the other hand, there is still not an underlying cause that may have caused the cerebellar atrophy.
CSF tests results may shed some light on the cause.
I think also that paraneoplastic syndrome is still a possibility and, biopsy of the lung may be necessary if feasible to understand it correctly.
If still no results after these steps, idiopathic cerebellar ataxia remains the most likely diagnosis.
Hope you found the answer helpful.
Let me know if I can assist you further.
In some cases the cause of ataxia remains unknown.
Detailed Answer:
Hello and welcome to "Ask a Doctor " service.
I have read your query and the test results that you wrote.
In my opinion, in this case is clear that cerebellar ataxia is the diagnosis regarding the neurological findings and mainly the imaging tests results.
In the other hand, there is still not an underlying cause that may have caused the cerebellar atrophy.
CSF tests results may shed some light on the cause.
I think also that paraneoplastic syndrome is still a possibility and, biopsy of the lung may be necessary if feasible to understand it correctly.
If still no results after these steps, idiopathic cerebellar ataxia remains the most likely diagnosis.
Hope you found the answer helpful.
Let me know if I can assist you further.
Above answer was peer-reviewed by :
Dr. Vaishalee Punj
Answered by
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