Misdiagnosed or undiagnosed disease is a
major problem in the United States and across the world.
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 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.
Leukodystrophies are a group of rare genetic disorders that predominantly affect white matter of the brain and sometimes the peripheral nervous system too. 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.
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.