Please Help Me Identify This Syndrome..

[Paradoxical]

I’m hoping that someone here can help me identify this underlying condition. The symptoms I have are deteriorating slowly, and I’m very scared by the fact that I do not know which syndrome is responsible, or what the outcome will be. Please help me; my symptoms are very real  :cry:

I've been enduring these strange health problems for quite some time; the root cause of which I believe (coming from a background in science) is due to a genetic defect. I have quite a number of strange facial features & dental abnormalities, many of which I have noticed are attributed to various syndromes resulting from chromosomal aberrations (I.e. duplications, deletions, inversions, etc).

No doctor I’ve previously seen cared enough (or knew enough about this topic) to effectively find any syndrome which fit the criteria of symptoms. I have since lost my medical insurance and cannot afford to consult with a geneticist or undergo genetic testing.

I have a high IQ of 140. I have been diagnosed some time ago with Asperger’s syndrome (autism spectrum disorder), which is the cause for my high I.Q. I am 23 years old and have a background in biochemistry. I am 6’ tall and weighing in at 270 lbs.


FACIAL ANOMOLIES:

-  Nearly-flat back of skull
-  Frontal bossing
-  Unusually large head
-  Long, narrow face
-  Bird-like facial features
-  Drooping eyelids
-  Small jaw
-  Small mouth
-  Unusually shaped & thin upper lip

DENTAL SYMPTOMS:

-  Many adult teeth never developed (have many baby teeth)
-  Delayed eruption of adult teeth
-  Loss of tooth enamel
-  Pitting in several teeth
-  Deep grooves in lower front teeth

NEUROLOGICAL SYMPTOMS:

-  Ghosting of visual field (recent)
-  Simple partial seizures [temporal lobe epilepsy]
-  Tinnitus (intermittent)
-  Multiple chemical sensitivity
-  Phantom odors & tastes (olfactory hallucinations)
-  REM behavior disorder (violent sleep behavior)
-  Shooting nerve pain
-  Lack of fine muscle coordination (tremors)

ENDOCRINOLOGICAL SYMPTOMS:

-  Marked testosterone deficiency
-  Brief incident with manifestations of Cushing’s syndrome, which left substantial scarring from stretch marks.
-  Substantial weight fluctuations (gain or loss)
-  Gynecomastia
-  Hypothyroidism
-  Thyroid nodule

SKELETAL SYMPTOMS:

-  Arched neck
-  Extremely wide back with asymmetrical shoulder length (difference of 2”)
-  Small hands in proportion to body size

GASTROINTESTINAL SYMPTOMS:

-  Abdominal distention
-  Hepatosplenomegaly
-  Gluten intolerance

IMMUNOLOGICAL SYMPTOMS:

-  Susceptibility to infections

[Caliber2005]

Hi Paradoxical,
How are you?
I think it can be Cohen or William's Syndrome.
Read about them and let me know what you feel.
Bye.

[Paradoxical]

Oh my god.. Carol, I think you hit the nail right on the head with Lyme's..  I remember contracting Lymes when I was about 18-19 (4 years ago), and I remember the doctor telling me it would go away on it's own!!! After reading about this disease in greater detail, that is clearly not the case.. I had no idea, and the symptoms fit mine almost exactly.. that blows me away..

Every doctor I have seen since told me my symptoms were psychosomatic and recommended the newest latest & greatest SSRI antidepressant, courtesy of Eli Lilly. I have been admitted by family into a mental hospital for a week and given antipsychotic drugs...  How can it be that doctors are so incredibly incompetent!?

Anyway Carol, thank you so much for the time you took to write your response. I spent countless hours trying to self-diagnose and was ready to give up and let be whatever was coming to me.. I will definitely follow up with this..

[Carol in PA]

Although your body may have developed those anomalies due to genetics, your neurological symptoms resemble the pattern that is found in infection with tick borne diseases.
All of them, except the REM behavior disorder, are common complaints of people who have Lyme Disease.

Something happens with Lyme Disease that disrupts the HPA axis (hypothalamus - parathyroid - adrenals).  
I've noticed that people with Cushings often show symptoms of tick borne infection.
The gynecomastia may be from a pituitary cyst.

There are other tick borne infections besides Lyme, such as Babesiosis, which is a parasite that infects the red blood cells in a manner similar to malaria.
Symptoms include anemia, dark urine, and night sweats.  The spleen must filter out components of the red cells that are destroyed, which may account for its enlargement.

Bartonella is a coinfection of Lyme that can cause many gastrointestinal symptoms.
http://www.lymeinfo.net/coinfections.html

The dental anomalies remind me of what I've read about children born of parents who have Syphilis.
Syphilis is a spirochete bacteria that can be passed from mother to child.
Lyme Disease is caused by Borrelia burgdorferi, a spirochete bacteria that can also be passed from mother to child.

If you want to pursue the angle of tick borne infection, I can refer you to several reputable sources of information.

Wishing you the best,
Carol