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We Are Looking For Very Rare Hereditary Disorders. Symptoms Are

Posted on Wed, 11 Sep 2019

Question: We are looking for very rare hereditary disorders. symptoms are acute episodes that last anywhere from hours to days. there is a recovery. Afterwords but never a full recovery. during the episodes he is unable to retain any new information, cognitive skills decrease, confusion, walking as if intoxicated, sometimes there are periods of inappropriate laughter and obsessive talking, other times there are severe agitation, Hemianopsia(sometimes), headache, sometimes pupils are unresponsive to light. my father and three of his brothers have all had the exact same symptoms. age of onset appears to be early 50s. he has also had two sisters that have had symptoms of MS/ALS but doctors agree they met neither category. Through genetic testing mitochondrial disorders have been ruled out.
clinical evidence
low RDW, hemocrite
elevated Adamts13
elevated d-dimer
elevated ristocetin cofactor
MRI possible asymmetric sylvian fisher

any idea which genes we should look further into? He has had whole exome sequencing done with Genedx.

Follow up: Dr. Diptanshu Das (0 minute later)

We are looking for very rare hereditary disorders. symptoms are acute episodes that last anywhere from hours to days. there is a recovery. Afterwords but never a full recovery. during the episodes he is unable to retain any new information, cognitive skills decrease, confusion, walking as if intoxicated, sometimes there are periods of inappropriate laughter and obsessive talking, other times there are severe agitation, Hemianopsia(sometimes), headache, sometimes pupils are unresponsive to light. my father and three of his brothers have all had the exact same symptoms. age of onset appears to be early 50s. he has also had two sisters that have had symptoms of MS/ALS but doctors agree they met neither category. Through genetic testing mitochondrial disorders have been ruled out.
clinical evidence
low RDW, hemocrite
elevated Adamts13
elevated d-dimer
elevated ristocetin cofactor
MRI possible asymmetric sylvian fisher

any idea which genes we should look further into? He has had whole exome sequencing done with Genedx.

Answered by Dr. Diptanshu Das (2 hours later)

Brief Answer:
Please upload the reports

Detailed Answer:
Thanks for using the Ask a Doctor service.

I understand the gravity of the situation. However, I would need further details to be able to comment. I would request you to upload the whole exome sequencing report, the MRI Brain report and any medical notes that you happen to have.

I would await your inputs. Based on that I would guide you further.

Regards

Above answer was peer-reviewed by : Dr. Prasad

Answered by Dr. Diptanshu Das (0 minute later)

Above answer was peer-reviewed by : Dr. Prasad

Follow up: Dr. Diptanshu Das (6 hours later)

Thank you for your response. I have thousands of pages of medical records to numerous to be able to attach. I have medical records available online through a record gathering service called picnic health. I will attach the report from the genetic study from last year and the one from 2008 and a few of the MRI reports and CAT scan

Follow up: Dr. Diptanshu Das (0 minute later)

Answered by Dr. Diptanshu Das (8 hours later)

Brief Answer:
Familial hemiplegic migraine explains all the presentations

Detailed Answer:
Thanks for writing back. I have carefully checked the attachments that you have provided. Unfortunately they have not yielded anything fruitful. The findings in the MRI also do not point to any definite pathology. However, the presentations can be related to the familial history of hemiplegic migraines. Familial hemiplegic migraine can be associated with ataxia, memory loss, attention problems, decrease in cognitive skills, mood imbalances as well as the neurological signs like the ones described. So, I think it to be nothing else.

Regards

Above answer was peer-reviewed by : Dr. Vaishalee Punj

Answered by Dr. Diptanshu Das (0 minute later)

Above answer was peer-reviewed by : Dr. Vaishalee Punj

Follow up: Dr. Diptanshu Das (4 hours later)

hemi migraine would not account for
elevated adamts13, elevated d-dimer and elevated Ristocetin Cofactor. This would be a blood disorder.

Follow up: Dr. Diptanshu Das (0 minute later)

hemi migraine would not account for
elevated adamts13, elevated d-dimer and elevated Ristocetin Cofactor. This would be a blood disorder.

Answered by Dr. Diptanshu Das (3 hours later)

Brief Answer:
Correlation needed

Detailed Answer:
I agree that the elevation in ADAMTS13, d-dimer and Ristocetin cofactor point to the likelihood of some coagulation cascade problem. Possibly this finding is independent of the familial hemiplegic migraine. But could you please tell me why these blood parameters were tested? There must have been something the doctor sought to correlate when he ordered these tests. Besides, we treat a patient and not reports. Finding something to be out of place does not mean that it has clinical significance.

Regards

Above answer was peer-reviewed by : Dr. Raju A.T

Answered by Dr. Diptanshu Das (0 minute later)

Above answer was peer-reviewed by : Dr. Raju A.T

Follow up: Dr. Diptanshu Das (24 hours later)

there is not a familial hemiplegic migraine. these test were performed looming for an answer to the acute episodes.

Follow up: Dr. Diptanshu Das (0 minute later)

there is not a familial hemiplegic migraine. these test were performed looming for an answer to the acute episodes.

Answered by Dr. Diptanshu Das (32 hours later)

Brief Answer:
FHM explains it perfectly

Detailed Answer:
I do not understand how these tests explain the underlying pathology. As you have already explained, the tests are on a different line (hematological). Furthermore, the diagnosis of familial hemiplegic migraine is clinical and related to family history. Tests will not really help. It explains the symptoms clearly. I do not know why you want to deny it.

Regards

Above answer was peer-reviewed by : Dr. Vaishalee Punj

Answered by Dr. Diptanshu Das (0 minute later)

Above answer was peer-reviewed by : Dr. Vaishalee Punj

Follow up: Dr. Diptanshu Das (1 hour later)

Did you review the genetic report I sent you? It rules out hemiplegic migraine%E2%80%99s! if you look at the lab reports I sent you it indicates that this is a clotting disorder.

Follow up: Dr. Diptanshu Das (0 minute later)

Did you review the genetic report I sent you? It rules out hemiplegic migraine%E2%80%99s! if you look at the lab reports I sent you it indicates that this is a clotting disorder.

Follow up: Dr. Diptanshu Das (58 minutes later)

i do you not need any further communications with you. You are of absolutely no help. FHM is not a rare disorder. The clinical evidence does not point towards a migraine disorder. Please in the future listen to your patients when they%E2%80%99re asking for your help

Follow up: Dr. Diptanshu Das (0 minute later)

Answered by Dr. Diptanshu Das (1 hour later)

Brief Answer:
The genetic test cannot rule out FHM

Detailed Answer:
I am sorry that you were not satisfied with my answer. Thanks for your advice on seriously listening to the patients; I can assure you that I do, and did the same in your case. Familial hemiplegic migraine (FHM) usually involves the gene SCN1A but lack of such a genetic involvement does not rule out FHM. Thus the genetic test cannot 'rule out' FHM.

The clotting disorder is possibly an independent ailment compared to the FHM (or whatever you would like it to be) and needs to be handled separately.

Regards

Above answer was peer-reviewed by : Dr. Vaishalee Punj

Answered by Dr. Diptanshu Das (0 minute later)

Note: For detailed guidance on genetic screening consult a genetics specialist

Above answer was peer-reviewed by : Dr. Vaishalee Punj