eMedicine Specialties > Neurology > Pediatric Neurology

Neuronal Ceroid Lipofuscinoses: Follow-up

Author: Celia H Chang, MD, Associate Health Sciences Clinical Professor, Department of Neurology, University of California at Davis
Contributor Information and Disclosures

Updated: Sep 17, 2009

Follow-up

Patient Education

  • Genetic counseling is essential.
  • Prenatal diagnosis may be possible in a family with an affected child depending upon the NCL subtype.
  • Families may be referred to a number of support and research groups in the United States, including the following:
    • Batten Disease Support and Research Association: 1-800-448-4570 or www.bdsra.org.
    • Children's Brain Disease Foundation: 1-415-565-6259
    • Institute for Basic Research: 1-718-494-0600
    • The National Institute of Neurologic Disorders and Stroke at the National Institutes of Health

Miscellaneous

Medicolegal Pitfalls

  • The NCLs are progressive and generally shorten life expectancy. No specific treatment or cure is available for any of the NCLs. Therefore, a delay in diagnosis is unlikely to affect the clinical course or prognosis of the patient.
  • Liability issues may be involved if a second child is born to a family with a previously affected child, especially since prenatal diagnosis is now possible for many forms of NCL, both with DNA analysis and electron microscopy of chorionic villus samples.10
 


More on Neuronal Ceroid Lipofuscinoses

Overview: Neuronal Ceroid Lipofuscinoses
Differential Diagnoses & Workup: Neuronal Ceroid Lipofuscinoses
Treatment & Medication: Neuronal Ceroid Lipofuscinoses
Follow-up: Neuronal Ceroid Lipofuscinoses
References
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Further Reading

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Keywords

Batten disease, Parry's disease, Spielmeyer-Sjögren disease, Bielschowsky disease, Kufs disease, Santavuori-Haltia disease, neuronal ceroid lipofuscinoses, NCLs

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Contributor Information and Disclosures

Author

Celia H Chang, MD, Associate Health Sciences Clinical Professor, Department of Neurology, University of California at Davis
Celia H Chang, MD is a member of the following medical societies: American Academy of Neurology and Child Neurology Society
Disclosure: Nothing to disclose.

Medical Editor

Beth A Pletcher, MD, Associate Professor, Co-Director of The Neurofibromatosis Center of New Jersey, Department of Pediatrics, University of Medicine and Dentistry of New Jersey
Beth A Pletcher, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics, American Medical Association, and American Society of Human Genetics
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Kenneth J Mack, MD, PhD, Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic
Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, and Society for Neuroscience
Disclosure: Nothing to disclose.

CME Editor

,, Kathy Roarty Placeholder
Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD, Assistant Professor, Department of Pediatrics, Division of Pediatric Neurology, Department of Neurology, Oregon Health and Science University; Consulting Staff, Shriners Hospital for Children
Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society
Disclosure: Nothing to disclose.

 
 
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