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Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases

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Open until 4:30 p.m.
8 a.m. - 4:30 p.m.
8 a.m. - 4:30 p.m.
8 a.m. - 4:30 p.m.
8 a.m. - 4:30 p.m.
8 a.m. - 11:30 a.m.

Specialization in diagnosing rare or difficult-to-diagnose neurological conditions in both children and adults


Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases focuses on undiagnosed diseases, which include lysosomal storage diseases and leukodystrophies as well as other genetic diseases that affect the nervous system. Raphael Schiffmann, MD, is a leader in the study and treatment of many neurological disorders, including Fabry disease and Gaucher disease.

Misdiagnosed or undiagnosed disease is a major problem in the United States. In 2015, a report from the Institute of Medicine focused on the diagnostic errors in healthcare, estimating that five percent of U.S. adults who seek outpatient care each year experience a diagnostic error. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment or providing unnecessary or harmful treatment. 

Because Dr. Schiffmann focuses solely on rare disorders, he has a smaller patient load and can dedicate more time to longer patient visits and patient-specific research. Dr. Schiffmann understands the frustration and discouragement caused by living with an undiagnosed disease or condition and applies knowledge acquired during 25 plus years of experience in the field of neurology to try and assist his patients. 

We are pleased to welcome both physician- and self-referred patients.

Pay Your Bill

We offer an easy, secure way to pay your HTPN bill online through MyBSWHealth.

Tools & Resources

Our services are designed with you in mind so managing your healthcare needs is as simple as possible.

  • Patient Forms
  • Appointment Information
  • MyBSWHealth
  • Pay Your Bill
  • Financial Assistance
  • Accepted Insurance

Patient Forms

To ensure that your visit to our office is as convenient and efficient as possible, we are pleased to offer our registration forms online. The patient registration form may be completed electronically and printed for better legibility or completed manually.

New Patient Registration Forms

Authorization Forms

We do not release your medical information without your authorization.

Appointment Information

Making an Appointment

Before scheduling a patient for evaluation, Dr. Schiffmann reviews all available history, along with previous test results and neuroimaging scans. Please email or fax over any imaging you have had done in the past to 214.820.4562.

What to Expect at Your Initial Visit

Initial visits take at least an hour. Dr. Schiffmann goes over the tests and scans that have been forwarded in advance of the visit, completes a detailed patient history and performs a thorough physical exam. He then discusses his impressions extensively with the patient and family.

Upon Completion of Initial Visit

The patient and/or his or her family will be presented with a detailed report, and a copy will be sent to the patient’s primary care physician, including, possibly, specific recommendations for further diagnostic testing deemed necessary to consider or rule out certain conditions.

Diagnosis may take days, weeks, months or even longer depending on the case. In spite of Dr. Schiffmann’s best efforts, it is also possible that no cause will be found for the patient’s clinical manifestations. But every possible effort will be made.

To refer a patient to Dr. Schiffmann, please call 214.820.4688.


MyBSWHealth is an online tool where you can communicate with your providers, schedule an appointment, access and manage your family’s health.

Pay Your Bill

We offer an easy, secure way to pay your HTPN bill online through MyBSWHealth.

Financial Assistance

At Baylor Scott & White Health, we want to be a resource for you and your family. Our team of financial counselors is here to help. We encourage you to speak to a member of our team at any time – before, during or after care is received.

Accepted Insurance

Baylor Scott & White has established agreements with several types of insurances in an effort to make sure your health needs are covered.

Medical Services

Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases offers expertise and treatment options conveniently located near you.

  • Neurology


Misdiagnosed or undiagnosed disease is a major problem in the United States. Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases is a clinic that specializes in diagnosing rare or difficult-to-diagnose neurological conditions in both children and adults.

Some of the diseases Dr. Schiffmann specializes in detecting and treating include:

  • Lysosomal Storage Diseases
    • Fabry Disease
    • Gaucher Disease
    • Mucolipidosis Type IV
    • Mucopolysaccharidoses
    • Hurler Disease (Mucopolysaccharidosis Type I)
    • Hunter Disease (Mucopolysaccharidosis Type II)
    • Krabbe Disease (Globoid Cell Leukodystrophy)
    • Metachromatic Leukodystrophy
    • Niemann-Pick Disease Type A or B 
    • Niemann-Pick Type C
  • Leukodystrophies (Genetic Diseases of White Matter)
  • Metabolic disorders involving the nervous system
    • Sialic Acid Storage Disease
    • Salla Disease
    • Childhood Ataxia with CNS Hypomyelination/Vanishing White Matter Disease (CACH/VWM)
  • Adult Polyglucosan Body Disease or APBD


​Dr. Schiffmann has contributed over 220 peer-reviewed articles in national and international publications that have paved the way for increased knowledge of metabolic diseases and the methods used to diagnose and treat them.

Learn more about Dr. Schiffmann's current investigator-initiated studies.

The Natural History of Mucolipidosis Type IV

The purpose of this study is to define the natural history of Mucolipidosis Type IV and identify potential clinical outcome measures.

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