our practice

  • Michael W. Steppie, MD
  • Natalie Jenkins, ARNP-C, MSN
  • Michael Siino, MPAS, PA-C
  • Mario MonteLeone, MPAS, PA-C
  • Stephanie McPherson, PA-C
  • Dr. Lisa F. Shirley-Williams, MD

contact information

Associates In Dermatology- Michael W. Steppie, MD
7932 W. Sand Lake Rd.
Suite 202
Orlando, Florida 34819
Tel: 407-846-7546
Fax: 321-206-5419
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Email Us

other locations

Kissimmee
725 E. Oak St.
Kissimmee, FL 34744
Tel: 407846-7546
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St. Cloud
3106 17th Street
St. Cloud, FL 34769
Tel: 407-846-7546
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Celebration
400 Celebration Place
Suite A-120
Celebration, FL 34747
Tel: 407-303-4170
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Davenport
2205 N. Blvd. West
Davenport, FL 33837
Tel: 863-421-4158
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East Orlando
7824 Lake Underhill Rd.
Suite J
Orlando, FL 32822
Tel: 407-239-7546
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Ocoee
530 Ocoee Commerce Parkway
Ocoee, FL 34761
Tel: 407-239-7546
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Altamonte Springs
106 Boston Ave.
Suite 100
Altamonte Springs, FL 32701
Tel: 407-239-7546
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Clermont
1920 Don Wickham Dr.
Suite 125
Clermont, FL 34711
Tel: 407-846-7546
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Health Education Index

CTX - A Case for Dr. House

(Cerebrotendinous Xanthomatosis)

Dr. Michael W. Steppie Presented His CTX Case on Discovery Health's Mystery Diagnosis April 2010

A 27 year old female patient presented with a nodule on her elbow.  A physical exam showed multiple, firm nodules over her joints.  She had been experiencing headaches, memory loss, and difficulty walking.  She also has a sister with similar symptoms.  Her history included development of unexplained cataracts at age 12.

The patient had visited many doctors and had multiple tests performed over the years.  No one could figure out what was wrong with her or why she and her older sister were getting worse.

After extensive research and peforming skin biopsies, an MRI, EEG and CT scans, I concluded that she had CTX, or Cerebrotendinous Xanthomatosis.  However, the only way I could confirm the diagnosis was with a special blood and urine gas chromatography.  After an intensive search I found the only person in the US that can test for this condition at the New Jersey Medical School.  Gerald Salen, MD, is the expert on CTX.  Blood and urine specimens were sent to Dr. Salen and the test results were positive, 40x the normal range of an average adult.

Treatment is life-saving with chenodeoxycholic acid.  However, it is not approved by the FDA.  Dr. Salen is the only doctor approved to obtain the medication from Germany.  When I contacted Dr. Salen he immediately sent me the medication for the patient.  Within three months the patient's nodules improved significantly, and one nodule disappeared altogether.  A repeat EEG, which shows neurologic function, was performed and improved by 20%.  Without treatment patients have progressive neurologic dysfunction that leads to death.

Early diagnosis is essential and life-saving.  CTX can be reversible if recognized early enough.  I believe there are thousands of people that have been misdiagnosed or are undiagnosed and still looking for an answer, just like this young lady and her sister.  Please watch the following video for more on their story:

www.youtube.com/watch

Please also see the Cerebrotendinous Xanthomatosis (CTX) page of the library section for CTX Facts.

Because of similar case studies and determined doctors like Dr. Steppie, in February 2010 the FDA approved the treatment medication for CTX.

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