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Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases

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Wednesday:
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Thursday:
8 a.m. - 4:30 p.m.
Friday:
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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
  • Online Resources

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

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.

Online Resources

  • https://www.childrensgaucher.org
  • http://theglia.org/what-are-leukodystrophies
  • https://rarediseases.org/rare-diseases/leukodystrophy

Medical Services

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 located near you.

  • Adult Polyglucosan Body Disease or APBD
  • Leukodystrophies (Genetic Diseases of White Matter)
  • Lysosomal Storage Diseases
  • Other Metabolic Disorders involving the Nervous System

Adult Polyglucosan Body Disease or APBD

Adult polyglucosan body disease is a very rare, chronically progressive neurological disease characterized by adult onset, sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and dementia. It is the adult form of glycogen storage disease type IV and is caused by a deficiency of glycogen branching enzyme.​​

Leukodystrophies (Genetic Diseases of White Matter)

Leukodystrophies are a group of rare genetic disorders that predominantly affect white matter of the brain and sometimes the peripheral nervous system. These disorders are often progressive, meaning that they tend to get worse throughout the life of the patient. There are more than 40 distinct leukodystrophies currently identified. The diagnosis of a leukodystrophy is made by a combination of the clinical presentation and the pattern of abnormalities on brain MRI (magnetic resonance imaging). Definitive diagnosis is often made by looking for gene mutations in the DNA of the patients.

Lysosomal Storage Diseases

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when the lysosome – a specific organelle in the body's cells – malfunctions.

Fabry Disease – an X-linked lysosomal storage disease. It is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A. Patients with Fabry disease are at higher risk of stroke, small-fiber neuropathy, heart disease and kidney disease. Treatment may be disease-specific (enzyme replacement) or non-disease specific yet quite efficacious.

Gaucher Disease – an autosomal recessive lysosomal storage disease caused by a deficiency of the lysosomal enzyme glucocerebrosidase. Patients may have anemia, thrombocytopenia, large spleen and liver and bone disease. Some patients also have neurological involvement. Enzyme replacement therapy or substrate synthesis reduction therapy is highly efficacious therapeutic interventions.

Mucolipidosis Type IV – very rare neurodevelopmental brain disease that is associated with progressive retinal degeneration. Patients may be diagnosed by the finding of elevated blood gastrin (a hormone) levels.

Mucopolysaccharidoses – this is a group of lysosomal enzyme deficiencies that cause a variety bone abnormalities and often neurological deficits

Hurler Disease (Mucopolysaccharidosis Type I)

Hunter Disease (Mucopolysaccharidosis Type II)

Krabbe Disease (Globoid Cell Leukodystrophy) – is caused by galactocerebrosidase deficiency. The infantile form is the most common and the most severe but it can present at any age including in adults

Metachromatic Leukodystrophy – caused by arylsulfatase A. The most common is the late infantile type with onset at age 15-24 months. The juvenile form has its onset between 3 and 10 years of age. Adult forms exist that often present with psychiatric symptoms

Niemann-Pick Disease Type A or B – the disease is caused by sphingomyelinase deficiency. Type A has both visceral and brain disease while type B has only visceral involvement. The latter consists of a large liver and spleen and respiratory problems.

Niemann-Pick Type C – this is one of the most common lysosomal storage diseases. It causes progressive brain degeneration is less often liver dysfunction.

Other Metabolic Disorders involving the Nervous System

  • Sialic Acid Storage Disease
  • Salla Disease
  • Childhood Ataxia with CNS Hypomyelination/Vanishing White Matter Disease (CACH/VWM)

Research

​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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