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We Are Looking For A Very Rare Genetic Disorder. 3
Question: we are looking for a very rare genetic disorder. 3 brothers acute %E2%80%9Cepisodes%E2%80%9D ataxia, visiual disturbance(partial loss, sometimes black spots in vision sometime objects are distorted), severe headache described as worst headache of life, pupils are not always responsive to light, eeg revealed possible encephalopathy, unable to retain memories during the episode. Loss of cognitive skills. There is a recovery after the acute episode but they always retain some cognitive loss after each one that creates a gradual decline, insominia, small vessel disease revealed on MRI that is associated with age. age of onset appears to be late 40s early 50s. PET scan reveals possible asymmetric left sylvianfisher. Genetic study rulled out mitochondrial disorders, migraine disorders.
clinical evidence
elevated adamts13
chronic mildly low hypocrite and rdw.
elevated d-dimer
elevated ristocetin
clinical evidence
elevated adamts13
chronic mildly low hypocrite and rdw.
elevated d-dimer
elevated ristocetin
we are looking for a very rare genetic disorder. 3 brothers acute %E2%80%9Cepisodes%E2%80%9D ataxia, visiual disturbance(partial loss, sometimes black spots in vision sometime objects are distorted), severe headache described as worst headache of life, pupils are not always responsive to light, eeg revealed possible encephalopathy, unable to retain memories during the episode. Loss of cognitive skills. There is a recovery after the acute episode but they always retain some cognitive loss after each one that creates a gradual decline, insominia, small vessel disease revealed on MRI that is associated with age. age of onset appears to be late 40s early 50s. PET scan reveals possible asymmetric left sylvianfisher. Genetic study rulled out mitochondrial disorders, migraine disorders.
clinical evidence
elevated adamts13
chronic mildly low hypocrite and rdw.
elevated d-dimer
elevated ristocetin
clinical evidence
elevated adamts13
chronic mildly low hypocrite and rdw.
elevated d-dimer
elevated ristocetin
Brief Answer:
Could be Hereditary microangiopathy-some type
Detailed Answer:
Hello and welcome to Ask A Doctor service.
I have reviewed your query and here is my advice.
In my opinion it seems some type of Hereditary microangiopathy. Since its happening as attacks, there maybe minor episodes of thrombotic strokes. Plaque formation likely as suggested by d-dimer and ristocetin increase.
Hope this helps. Let me know if I can assist you further.
Dr Vaishalee
Could be Hereditary microangiopathy-some type
Detailed Answer:
Hello and welcome to Ask A Doctor service.
I have reviewed your query and here is my advice.
In my opinion it seems some type of Hereditary microangiopathy. Since its happening as attacks, there maybe minor episodes of thrombotic strokes. Plaque formation likely as suggested by d-dimer and ristocetin increase.
Hope this helps. Let me know if I can assist you further.
Dr Vaishalee
Above answer was peer-reviewed by :
Dr. Nagamani Ng
Brief Answer:
Could be Hereditary microangiopathy-some type
Detailed Answer:
Hello and welcome to Ask A Doctor service.
I have reviewed your query and here is my advice.
In my opinion it seems some type of Hereditary microangiopathy. Since its happening as attacks, there maybe minor episodes of thrombotic strokes. Plaque formation likely as suggested by d-dimer and ristocetin increase.
Hope this helps. Let me know if I can assist you further.
Dr Vaishalee
Could be Hereditary microangiopathy-some type
Detailed Answer:
Hello and welcome to Ask A Doctor service.
I have reviewed your query and here is my advice.
In my opinion it seems some type of Hereditary microangiopathy. Since its happening as attacks, there maybe minor episodes of thrombotic strokes. Plaque formation likely as suggested by d-dimer and ristocetin increase.
Hope this helps. Let me know if I can assist you further.
Dr Vaishalee
Above answer was peer-reviewed by :
Dr. Nagamani Ng
thank you for the information. That is along the lines of what I was thinking also. The physicians involved I have searched diligently for the cause but unfortunately have all but given up now. I was thinking that this might be along the lines of Possibly ahus or upshaw-schulman syndrome? Are those microangiopathy?
thank you for the information. That is along the lines of what I was thinking also. The physicians involved I have searched diligently for the cause but unfortunately have all but given up now. I was thinking that this might be along the lines of Possibly ahus or upshaw-schulman syndrome? Are those microangiopathy?
Brief Answer:
TTP likely
Detailed Answer:
Hi again
AHUS is likely if there is blood or blood breakdown products in urine and the kidneys are affected badly. This doesnot seem likely in your case.
Upshaw-schulman syndrome is a possibility especially if your find some bleeds anywhere in body, maybe brain etc. Its not some type of microangiopathy.
In fact most genetic disorders are still not recognised and studied. These being rare.
No matter what the genes have to say, management is still going to be related to symptoms. If some space occupying lesion is found on radiography, it maybe resected by the surgeons.
Dr Vaishalee
TTP likely
Detailed Answer:
Hi again
AHUS is likely if there is blood or blood breakdown products in urine and the kidneys are affected badly. This doesnot seem likely in your case.
Upshaw-schulman syndrome is a possibility especially if your find some bleeds anywhere in body, maybe brain etc. Its not some type of microangiopathy.
In fact most genetic disorders are still not recognised and studied. These being rare.
No matter what the genes have to say, management is still going to be related to symptoms. If some space occupying lesion is found on radiography, it maybe resected by the surgeons.
Dr Vaishalee
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
Brief Answer:
TTP likely
Detailed Answer:
Hi again
AHUS is likely if there is blood or blood breakdown products in urine and the kidneys are affected badly. This doesnot seem likely in your case.
Upshaw-schulman syndrome is a possibility especially if your find some bleeds anywhere in body, maybe brain etc. Its not some type of microangiopathy.
In fact most genetic disorders are still not recognised and studied. These being rare.
No matter what the genes have to say, management is still going to be related to symptoms. If some space occupying lesion is found on radiography, it maybe resected by the surgeons.
Dr Vaishalee
TTP likely
Detailed Answer:
Hi again
AHUS is likely if there is blood or blood breakdown products in urine and the kidneys are affected badly. This doesnot seem likely in your case.
Upshaw-schulman syndrome is a possibility especially if your find some bleeds anywhere in body, maybe brain etc. Its not some type of microangiopathy.
In fact most genetic disorders are still not recognised and studied. These being rare.
No matter what the genes have to say, management is still going to be related to symptoms. If some space occupying lesion is found on radiography, it maybe resected by the surgeons.
Dr Vaishalee
Note: For detailed guidance on genetic screening consult a genetics specialist
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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