eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Metachromatic Leukodystrophy: Follow-up
Updated: Sep 15, 2008
Follow-up
Further Outpatient Care
- Follow-up evaluation and treatment are often needed.
- A physical therapist, occupational therapist, orthopedist, ophthalmologist, neuropsychologist, and other specialists may be involved.
Inpatient & Outpatient Medications
- Medications are used to provide supportive care or symptomatic relief rather than to treat the underlying cause.
Transfer
- Referral or transfer to a major medical center with experience in treating inherited neurodegenerative and metabolic disorders in a multidisciplinary setting is highly recommended.
Deterrence/Prevention
- Genetic counseling is important to inform the family regarding the risk of occurrence in future pregnancies.
- Metachromatic leukodystrophy (MLD) is transmitted as an autosomal recessive trait.
- Available methods of prenatal testing should be discussed. Tests for a deficiency in enzyme activity in amniocytes or amniotic chorionic villi and gene deletion analysis may be available.
Prognosis
Patient Education
Numerous resources are available to families, including the following:
- The MLD Foundation is the world's largest MLD-focused organization and serves hundreds of families across the globe.
- The United Leukodystrophy Foundation is a nonprofit voluntary health organization dedicated to providing patients and their families with information regarding MLD and to identifying resources for families.
- The National Organization for Rare Disorders (NORD) Web site includes a page titled Leukodystrophy, Metachromatic, and the National Tay-Sachs and Allied Diseases Association may provide useful information.
- The National Institute of Neurological Disorders and Stroke Web site includes a page titled the NINDS Metachromatic Leukodystrophy Information Page.
- A limited list of current clinical trials for many diseases can be found at ClinicalTrials.gov, which is a Web site maintained by the National Institutes of Health.
Miscellaneous
Medicolegal Pitfalls
- Initial presenting signs and symptoms may be subtle and easily confused with those of other, similar diseases.
- A high index of suspicion should be maintained when evaluating patients with neurodegenerative disorders.
- Failure to recognize metachromatic leukodystrophy (MLD) and other neurodegenerative disorders may leave physicians open to criticism.
- Early diagnosis and referral optimize the time for procuring an acceptable bone marrow donor.
- Assay of urine arylsulfatase A activity may be unreliable as a diagnostic test.
- Beware of arylsulfatase A pseudodeficiency.
Special Concerns
More on Metachromatic Leukodystrophy |
| Overview: Metachromatic Leukodystrophy |
| Differential Diagnoses & Workup: Metachromatic Leukodystrophy |
| Treatment & Medication: Metachromatic Leukodystrophy |
Follow-up: Metachromatic Leukodystrophy |
| References |
| « Previous Page |
References
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Hernandez-Palazon J. Anaesthetic management in children with metachromatic leukodystrophy. Paediatr Anaesth. Oct 2003;13(8):733-4. [Medline].
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Further Reading
Keywords
metachromatic leukodystrophy, arylsulfatase A deficiency, MLD, neurodegenerative disorders, cerebroside sulfatide, galactosyl sulfatide, bone marrow transplantation, sulfatide sulfatase deficiency, sulfatide accumulation, cholecystitis, pancreatitis
Follow-up: Metachromatic Leukodystrophy