Doctor insights on:
Beckwith Wiedemann Syndrome
I have all the symptom of guillam barre syndrome. It's started last month April 18 this and the sign and symptom progress and days and weeks.
May be another thing: Guillian Barre' is typically a rapidly progressive ascending polyneuropathy that can result in an inability to breath. It is associated with a number of infections, medications, toxic exposures, but the source is often unknown. You MUST seek immediate medical care with Neurology consultation diagnose this issue. See the link below: http://www. Ninds. Nih. Gov/disorders/gbs/detail_gbs. Htm ...Read more
Inflammation: Reiter's syndrome is sometimes termed reactive arthritis. In susceptible individuals (often with marker called hla b27 in their blood), there is joint inflammation, as well as inflammation of the urethra and conjunctivitis. The reaction may be to a prior infection elsewhere in the body. Reiter's should be evaluated and treated by an ophthalmologist and rheumatologist. ...Read more
Yes: Jacob's xyy is badly misunderstood. It makes a man taller, more at risk for acne, and he may speak later. The rubbish about "natural criminal" is fully discredited; if he's a bit more aggressive -- hey, in our world I think that's a good thing. As an internet physician with an interest in xyy, I've saved the lives of over a dozen unborn children; many thank-you's and no one says they chose wrong. ...Read more
Chromosome accurate: If you mean chromosomal analysis, the results will be definite. ...Read more
Netherton Syndrome: Is diagnosed by molecular genetic testing for mutations of the SPINX gene on Chromosome 5q32. Other tests to determine the level of severity are found on www. Genecards. Org/cgi-bin/carddisp. Pl? gene=SPINK5&search=spink5. Geneticists, dermatologists & other specialists provide diagnosis & management. See: www. Firstskinfoundation. Org/content. Cfm/Ichthyosis/Netherton-Syndrome-Fact-Sheet/page_id/901 ...Read more
Is neuropathy associated with guilain barre syndrome treatable and if so, how do I treat it and relieve the painful symptoms? My neurosurgeon just informed me that I have g.B.S. And had it since may 2011 following a stomach flu I had 2 weeks before my sym
Your case presents a few dilemmas. Gbs is a group of autoimmune diseases targeted at the peripheral nerves and causing acute progressive weakness, usually an ascending paralysis.
The history usually entails the following:
â€¢upper respiratory or diarrheal disease within previous 1â€“3 weeks in 50â€“70%: c. Jejuni (~40%), cytomegalovirus (13%), epstein-barr virus (10%), mycoplasma pneumoniae (5%), or hiv
â€¢dysesthesias (painful tingling), paresthesias (tingling) of the feet and hands are usually the earliest symptoms.
â€¢pain is common- especially back pain which can radiate to the legs and not usually associated with myalgias (muscle pain).
â€¢gait disorder common in all age groups- this is the most common presentation in children
â€¢neck muscle weakness, dysphagia, and dysarthria are predictors of respiratory failure.
The physical exam frequently reveals the following:
â€¢acute, symmetric, and usually ascending weakness of limbs within days of dysesthesias
â€¢areflexia (no reflexes) or hyporeflexia (reduced reflexes) and muscle weakness, decreased position and vibratory sensation
â€¢respiratory muscle paralysis 30% if untreated
â€¢cranial nerve involvement <50%; usually facial weakness, 10â€“20% ophthalmoparesis (loss of eye movement)
â€¢dysautonomia (abnormal autonomic nervous system responses) (50%): labile blood pressure, arrhythmias, ileus (paralysis of bowel function), urinary retention;
â€¢miller-fisher variant: ophthalmoplegia, ataxia, areflexia
important lab tests
â€¢csf: elevated protein and normal white blood cells (wbcs; albuminocytologic dissociation) are characteristic with a normal opening pressure.
â€¢emg: this shows a pattern of demyelination with prolonged latencies and a reduced motor compound action potential.
The medications usually used are one or more of the following:
â€¢immune globulin (ivig)
â€¢plasmapheresis or plasma exchange
most patients reach the plateau phase within 3 weeks of admission, and muscle strength is expected to improve. The prognosis is:
â€¢complete recovery: 50%
â€¢some residual disability: 45%
â€¢severe permanent disability: 5%
hence, the dilemma as you report no improvement and in fact worsening. Furthermore, a lesion within the spinal cord (myelopathy) can present with similar symptoms as the ones you provide. A few pertinent questions to help discern the cause would include whether you have had a lumbar puncture and EMG and what did these results show?
I hope this answers your questions. Good luck and well wishes. ...Read more
ZES: Usually you will be seen by a gastroenterologist. ...Read more
Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures.
Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
Vision problems should be treated when possible.
Monitor for scoliosis, especially during the teenage years.
Medicine to slow the heart rate may help prevent stress on the aorta. ...Read more
Yes: You need to see an asthma or pulmonary specialist for specific treatment. Every patient is different and need to be treated individually. What works for one patient might not work for another. This disorder can be well-controlled with simple therapy but the occasional exacerbation does happen and needs immediate treatment. ...Read more
I live in france and have been diagnosed with fernand vidal syndrome. Is this malady recognized in the usa? if so, what is the recommended treatment?
Yes: It is known as aspirin exacerbated respiratory disease (AERD) in the USA. Treatment includes: asthma therapy (usually leukotriene modifying agents, e.g. Singulair); medical and surgical management of chronic rhinosinusitis; and either avoiding all cox-1 inhibiting NSAIDs (e.g. Advil, (ibuprofen) Aleve) or aspirin-desensitization followed by daily aspirin. ...Read more
Downs Syndrome: Early intervention, therapy and special education is all you can do. Some kids with downs syndrome are capable of independent living, others in group homes and some in their own family system with a little understanding. Gene therapy and stem cell therapy? May be in near or no so distant future. ...Read more
My wife is suffering from benign hyper mobility syndrome and been diagnosed with it couple of days back. She is 37 years old, is there any cure?
None per se....: Hypermobility is a causes for accelerated osteoarthritis. It can be helped with proper sporting activities: 1. They should be non-concussive. 2. They should avoid pivoting of jumping-tennis, volleyball, etc. 3. Bicycling proipable best aerobic activity. 4. Strengthening opposing muscles-bicepts instead of triceps will help hypermobile elbows! Good luck! ...Read more
Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?
Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc), cardiovascular (dilated aortic root, valve trouble etc.), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more
SJS: Although it is possible, the risk of having sjs a second time with a second unrelated drug would be exceedingly rare. ...Read more
I have been taking Lempsip Max cold relief tablets without realising that you cannot take it if you have Raynauds Syndrome. Are there any side effect?
Depends on parents: An unaffected mother or father could have a balanced (normal) set of chromasome material where a piece of one 21 chromasome is stuck on another. If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds. It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read more
Yes: Most often, down's syndrome, or trisomy 21, occurs in women over the age of 35 and increases with age. For people at risk, there are definitive diagnostic tests (cvs and amniocentesis) that can confirm or rule out a chromosomal abnormality. Also, most states offer comprehensive screening tests that inform patients whether they are at increased or decreased risk of carrying a down's syndrome baby. ...Read more
Doctor: If you have a history of lumbar disc herniation or spinal stenosis, check with your doctor to see if the compression seen on imaging studies warrants concern. If you have no history of lumbar issues, then your risk is extremely low of ever developing this condition in one's lifetime. There is no screening for this pathology for prevention. ...Read more
It depends: Like most genetic syndromes, there can be few or many symptoms or signs. Treatment depends on the severity, and if treatment is possible. Some people may have ti and never be diagnosed with it because the signs are minor. See https://ghr. Nlm. Nih. Gov/condition/beckwith-wiedemann-syndrome ...Read more
beckwith-wiedemann syndrome is a congenital condition that causes a baby to have a large body, enlargement of some internal organs as wells as possible seizures, low blood sugar, undescended testicles, feeding difficulties with a large tongue, umbilical hernia & lethargy etc. ...Read more
My consultant suspects growth disorder possibly beckwith wiedemann or gigantism, why do we have an opthalmologist?
Kundalini: The Kundalini syndrome has been reported in people with near-death experiences or with some types of yoga & meditation. The main sx is a feeling of energy or heat at the spine. It can also include severe headaches, sense of energy or heat in the hands, ecstasy, body tremor or vibration, sense of heat or cold moving through the body, sensing inner lights as well as other tactile experiences. ...Read more
Extra Y chromosome: About one man in 1000 has an extra Y chromosome and it's likely to be discovered only if there's some investigation because of some problem such as autism. This has given rise to the myth that autism, criminal behavior and so forth are more common in such men. They average taller and tend to get worse acne. The "criminal" claims haven't held up to real science. ...Read more