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Neurology (Expert Forum)
undiagnosed symptoms
Answered by
CCFNeuroMD JT, MD - Neurology/Epilepsy, Neurology/General
Cleveland - OH
This forum is for questions and support regarding neurology issues such as: Alzheimer's Disease, ALS, Autism, Brain Cancer, Cerebral Palsy, Chronic Pain, Epilepsy, Fibromyalgia, Headaches, MS, Neuralgia, Neuropathy, Parkinson's Disease, RSD, Sleep Disorders, Stroke, Traumatic Brain Injury
undiagnosed symptoms
by strictlyconfidential, Jan 26, 2008 08:36AM
Hello, I have a hard time describing my symptoms. I don't know if they're neurological or not, Please, please don't tell me to consider anxiety, I am absolutely certain there is something physcially wrong. First off I've suffered chronic daily headache for 3 years strait with no help from any meds. I'm on no meds and I'm 30 years old. It started when I was having some energy surges in my abdomen/chest that gave me a high pulse and would send me into tachycardia and near syncope. I also began feeling undescribably sick with a general malaise. I immediately stopped smoking when these symptoms started and the syncope has abated for now, but I have a very uncormfortable diffuse feeling in my chest, up into my lower neck, and I have this "air hunger" that comes and goes. I feel extremely ill, I wish I could make someone understand how bad it is. The symptoms wax and wane. I don't get especially short of breath when exercising, in fact I feel quite better while exercising, but after exercise, the "air hunger" typically gets worse and I crash into a bad episode of extreme malaise and discomfort.
It also feels like when I am at rest, my lungs rest fully deflated and i have to make a conscious effort to breathe in. This is most present when I feel the air hunger and bad malaise, it seems like the energy surges, malaise, air hunger (feel like I need to yawn but can't), chest discomfort are all interchangeable or go together (one may come when the other goes, or some come and go with each other). I've also noticed, that even though I don't have any cough whatsoever, that I am able to clear my throat and expel small amounts of yellow or white mucus at least a few times a day.
Please base your best guess based on the account that the standard CBC/chemistry, echo, Holter, Chest xray, and EKG are normal. Brain MRI from a year before this started was normal (evaluating my daily headache)
It also feels like when I am at rest, my lungs rest fully deflated and i have to make a conscious effort to breathe in. This is most present when I feel the air hunger and bad malaise, it seems like the energy surges, malaise, air hunger (feel like I need to yawn but can't), chest discomfort are all interchangeable or go together (one may come when the other goes, or some come and go with each other). I've also noticed, that even though I don't have any cough whatsoever, that I am able to clear my throat and expel small amounts of yellow or white mucus at least a few times a day.
Please base your best guess based on the account that the standard CBC/chemistry, echo, Holter, Chest xray, and EKG are normal. Brain MRI from a year before this started was normal (evaluating my daily headache)
Doctor's Answer
by CCFNeuroMD JT, MD, Jan 26, 2008 12:04PM
, Jan 26, 2008 12:04PM
Dear Strictly Confidential,
Thank you very much for your question. I am happy to address the issues that you pose, although it is important that you recognize that my impression is based entirely on the information you have provided in your posting and is by no means a replacement for an office visit with a neurologist. Diagnosis is contingent on detailed history and physical exam and as such, the following information should be considered solely for educational purposes.
First off, let me say that I am sorry that you are not feeling well and that your symptoms have been largely undiagnosed. While such symptoms may be a manifestation of anxiety, all other "organic" diagnoses should be ruled out prior to coming to this conclusion. When I first read your question, my first concern was for your cardiac health, although you state that you have had a fairly comprehensive cardiac workup which has been normal.
To sum up your symptoms, you describe some shortness of breath in the form of "air hunger" more at rest than with exercise, chest discomfort, dry mouth, and malaise. You don't have a cough but occasionally cough up small amounts of mucous. The dry mouth may or may not be related to a medication you are taking (anticholinergic medications). There is no particular diagnosis that comes to mind but here are a few possibilities to consider:
(1) Gastroesophageal Reflux Disease (GERD): A common condition which essentially results from some of the stomach acid refluxing up into your esophagus. This can produce chest pain the mimics heart attack symptoms, sometimes respiratory problems as well. Patients are generally responsive to proton-pump inhibitor medications such as omeprazole. Diagnosis can be made partially by response to therapy, but also by tests including pH monitoring, endoscopy, barium swallow, and manometry. If left untreated, GERD may cause changes in the esophagus which predispose to a precancerous/cancerous condition known as Barrett's Esophagus.
(2) Sjogren's Syndrome: Although your symptoms don't "cry out" Sjogren's syndrome to me, given the dry eyes and perhaps respiratory symptoms, it is certainly a consideration. Sjogren's syndrome is an autoimmune process which primarily affects the glands in various parts of the body. Sometime symptoms of mouth, dry eyes, and decreased secretions provide a clue to this diagnosis. The fact that you have noted increased secretions without cough likely goes against this, but I wouldn't rule it out just yet. Because this disease process entails formulation of antibodies that attack the various glands in your body, this is a systemic process and there can be extraglandular symptoms. Some patients with this disease will develop arthritis, neuropathy (i.e. nerve damage), myopathy (i.e. muscle weakness), vasculitis (blood vessel inflammation), Raynaud's phenomenon (vascular problem involving the fingers and toes, primarily), and very rarely liver disease (primary biliary cirrhosis) and lymphoma. To screen for this condition, physicians may check the following blood tests: SSA/SSB (the antibodies involved in this particular syndrome), erythrocyte sedimentation rate (ESR). An ANA (antinuclear antibody), though commonly associated with lupus, may also be elevated in patients with other autoimmune processes. An associated myopathy can be screened for through blood tests which reflect muscle breakdown including CK (creatinine kinsae) , LD or LDH (lactate dehydrogenase), and aldolase.
(3) Thyroid disease: Either hypothyroidism or hyperthyroidism may cause pretty much any symptom in the book and are generally a routine part of an initial neurologic screen. Thyroid disease is most easily screened for by a simple blood test known as a TSH.
(4) Myasthenia Gravis (MG): An autoimmune condition which causes weakness secondary to antibodies formed against acetylcholine receptors in the neuromuscular junction. Muscle weakness is especially common in those muscles controlling eye-movement but may affect skeletal and respiratory muscles as well. Your description of symptoms improving with exercise make this very unlikely since symptoms in MG worsen with exertion.
(5) Eaton Lambert Myasthenia (AKA Lambert Eaton Myasthenic Syndrome): This condiition is an autoimmune condition which the body forms antibodies against calcium channels in the neuromuscular junction. Generally, patients experience proximal muscle weakness which actually improves with exertion and respiratory muscles may become involved. In about 50% of cases, this is a paraneoplastic process, i.e. it is associated with cancer. Paraneoplastic syndromes can often predate the appearance of a cancer so malignancy may not appear until years after the paraneoplastic syndrome is diagnosed. Again, your symptoms certainly are not textbook for this condition, although it is a remote consideration. To screen for this, one can check for the calcium channel antibodies in serum. An electromelogram (EMG) and nerve conduction studies (NCS) may also be helpful.
So, where does this leave you? I would recommend that you first see your PCP who can rule out more common (and thus more likely conditions) such as GERD or thyroid disease. If these conditions are eliminated, you may then consider visiting a neurologist who can conduct a thorough history and exam along with some screening tests for various neurologic diseases. I know I have given you quite a bit of information, and I hope it is at least to some degree helpful. I wish you the best of luck in figuring out an underlying diagnosis, and I thank you for your question.
Sincerely,
JBT, MD
Thank you very much for your question. I am happy to address the issues that you pose, although it is important that you recognize that my impression is based entirely on the information you have provided in your posting and is by no means a replacement for an office visit with a neurologist. Diagnosis is contingent on detailed history and physical exam and as such, the following information should be considered solely for educational purposes.
First off, let me say that I am sorry that you are not feeling well and that your symptoms have been largely undiagnosed. While such symptoms may be a manifestation of anxiety, all other "organic" diagnoses should be ruled out prior to coming to this conclusion. When I first read your question, my first concern was for your cardiac health, although you state that you have had a fairly comprehensive cardiac workup which has been normal.
To sum up your symptoms, you describe some shortness of breath in the form of "air hunger" more at rest than with exercise, chest discomfort, dry mouth, and malaise. You don't have a cough but occasionally cough up small amounts of mucous. The dry mouth may or may not be related to a medication you are taking (anticholinergic medications). There is no particular diagnosis that comes to mind but here are a few possibilities to consider:
(1) Gastroesophageal Reflux Disease (GERD): A common condition which essentially results from some of the stomach acid refluxing up into your esophagus. This can produce chest pain the mimics heart attack symptoms, sometimes respiratory problems as well. Patients are generally responsive to proton-pump inhibitor medications such as omeprazole. Diagnosis can be made partially by response to therapy, but also by tests including pH monitoring, endoscopy, barium swallow, and manometry. If left untreated, GERD may cause changes in the esophagus which predispose to a precancerous/cancerous condition known as Barrett's Esophagus.
(2) Sjogren's Syndrome: Although your symptoms don't "cry out" Sjogren's syndrome to me, given the dry eyes and perhaps respiratory symptoms, it is certainly a consideration. Sjogren's syndrome is an autoimmune process which primarily affects the glands in various parts of the body. Sometime symptoms of mouth, dry eyes, and decreased secretions provide a clue to this diagnosis. The fact that you have noted increased secretions without cough likely goes against this, but I wouldn't rule it out just yet. Because this disease process entails formulation of antibodies that attack the various glands in your body, this is a systemic process and there can be extraglandular symptoms. Some patients with this disease will develop arthritis, neuropathy (i.e. nerve damage), myopathy (i.e. muscle weakness), vasculitis (blood vessel inflammation), Raynaud's phenomenon (vascular problem involving the fingers and toes, primarily), and very rarely liver disease (primary biliary cirrhosis) and lymphoma. To screen for this condition, physicians may check the following blood tests: SSA/SSB (the antibodies involved in this particular syndrome), erythrocyte sedimentation rate (ESR). An ANA (antinuclear antibody), though commonly associated with lupus, may also be elevated in patients with other autoimmune processes. An associated myopathy can be screened for through blood tests which reflect muscle breakdown including CK (creatinine kinsae) , LD or LDH (lactate dehydrogenase), and aldolase.
(3) Thyroid disease: Either hypothyroidism or hyperthyroidism may cause pretty much any symptom in the book and are generally a routine part of an initial neurologic screen. Thyroid disease is most easily screened for by a simple blood test known as a TSH.
(4) Myasthenia Gravis (MG): An autoimmune condition which causes weakness secondary to antibodies formed against acetylcholine receptors in the neuromuscular junction. Muscle weakness is especially common in those muscles controlling eye-movement but may affect skeletal and respiratory muscles as well. Your description of symptoms improving with exercise make this very unlikely since symptoms in MG worsen with exertion.
(5) Eaton Lambert Myasthenia (AKA Lambert Eaton Myasthenic Syndrome): This condiition is an autoimmune condition which the body forms antibodies against calcium channels in the neuromuscular junction. Generally, patients experience proximal muscle weakness which actually improves with exertion and respiratory muscles may become involved. In about 50% of cases, this is a paraneoplastic process, i.e. it is associated with cancer. Paraneoplastic syndromes can often predate the appearance of a cancer so malignancy may not appear until years after the paraneoplastic syndrome is diagnosed. Again, your symptoms certainly are not textbook for this condition, although it is a remote consideration. To screen for this, one can check for the calcium channel antibodies in serum. An electromelogram (EMG) and nerve conduction studies (NCS) may also be helpful.
So, where does this leave you? I would recommend that you first see your PCP who can rule out more common (and thus more likely conditions) such as GERD or thyroid disease. If these conditions are eliminated, you may then consider visiting a neurologist who can conduct a thorough history and exam along with some screening tests for various neurologic diseases. I know I have given you quite a bit of information, and I hope it is at least to some degree helpful. I wish you the best of luck in figuring out an underlying diagnosis, and I thank you for your question.
Sincerely,
JBT, MD
Member Comments (4)
by strictlyconfidential